A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can be caused by genetic or environmental factors, such as thyroid dysgenesis or HYPOTHYROIDISM in infants of mothers treated with THIOURACIL during pregnancy. Endemic cretinism is the result of iodine deficiency. Clinical symptoms include severe MENTAL RETARDATION, impaired skeletal development, short stature, and MYXEDEMA.
A syndrome that results from abnormally low secretion of THYROID HORMONES from the THYROID GLAND, leading to a decrease in BASAL METABOLIC RATE. In its most severe form, there is accumulation of MUCOPOLYSACCHARIDES in the SKIN and EDEMA, known as MYXEDEMA.
Defective development of the THYROID GLAND. This concept includes thyroid agenesis (aplasia), hypoplasia, or an ectopic gland. Clinical signs usually are those of CONGENITAL HYPOTHYROIDISM.
The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates (INFANT, NEWBORN) from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic.
The major hormone derived from the thyroid gland. Thyroxine is synthesized via the iodination of tyrosines (MONOIODOTYROSINE) and the coupling of iodotyrosines (DIIODOTYROSINE) in the THYROGLOBULIN. Thyroxine is released from thyroglobulin by proteolysis and secreted into the blood. Thyroxine is peripherally deiodinated to form TRIIODOTHYRONINE which exerts a broad spectrum of stimulatory effects on cell metabolism.
A glycoprotein hormone secreted by the adenohypophysis (PITUITARY GLAND, ANTERIOR). Thyrotropin stimulates THYROID GLAND by increasing the iodide transport, synthesis and release of thyroid hormones (THYROXINE and TRIIODOTHYRONINE). Thyrotropin consists of two noncovalently linked subunits, alpha and beta. Within a species, the alpha subunit is common in the pituitary glycoprotein hormones (TSH; LUTEINIZING HORMONE and FSH), but the beta subunit is unique and confers its biological specificity.
Blood tests used to evaluate the functioning of the thyroid gland.
A highly vascularized endocrine gland consisting of two lobes joined by a thin band of tissue with one lobe on each side of the TRACHEA. It secretes THYROID HORMONES from the follicular cells and CALCITONIN from the parafollicular cells thereby regulating METABOLISM and CALCIUM level in blood, respectively.
Natural hormones secreted by the THYROID GLAND, such as THYROXINE, and their synthetic analogs.
An infant during the first month after birth.
Enlargement of the THYROID GLAND that may increase from about 20 grams to hundreds of grams in human adults. Goiter is observed in individuals with normal thyroid function (euthyroidism), thyroid deficiency (HYPOTHYROIDISM), or hormone overproduction (HYPERTHYROIDISM). Goiter may be congenital or acquired, sporadic or endemic (GOITER, ENDEMIC).
Thyroglobulin is a glycoprotein synthesized and secreted by thyroid follicular cells, serving as a precursor for the production of thyroid hormones T3 and T4, and its measurement in blood serves as a tumor marker for thyroid cancer surveillance.
A T3 thyroid hormone normally synthesized and secreted by the thyroid gland in much smaller quantities than thyroxine (T4). Most T3 is derived from peripheral monodeiodination of T4 at the 5' position of the outer ring of the iodothyronine nucleus. The hormone finally delivered and used by the tissues is mainly T3.
A dehydrated extract of thyroid glands from domesticated animals. After the removal of fat and connective tissue, the extract is dried or lyophilized to yield a yellowish to buff-colored amorphous powder containing 0.17-0.23% of iodine.
A hemeprotein that catalyzes the oxidation of the iodide radical to iodine with the subsequent iodination of many organic compounds, particularly proteins. EC
A nonmetallic element of the halogen group that is represented by the atomic symbol I, atomic number 53, and atomic weight of 126.90. It is a nutritionally essential element, especially important in thyroid hormone synthesis. In solution, it has anti-infective properties and is used topically.
Organizations which assume the financial responsibility for the risks of policyholders.
A gamma-emitting radionuclide imaging agent used for the diagnosis of diseases in many tissues, particularly in the gastrointestinal system, cardiovascular and cerebral circulation, brain, thyroid, and joints.
A beverage prepared from SOYBEANS.
Cell surface proteins that bind pituitary THYROTROPIN (also named thyroid stimulating hormone or TSH) and trigger intracellular changes of the target cells. TSH receptors are present in the nervous system and on target cells in the thyroid gland. Autoantibodies to TSH receptors are implicated in thyroid diseases such as GRAVES DISEASE and Hashimoto disease (THYROIDITIS, AUTOIMMUNE).
Any of six membrane-covered openings between the CRANIAL SUTURES in the incompletely ossified skull of the fetus or newborn infant. The fontanelles normally close sometime after birth.
A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).
Blood proteins that bind to THYROID HORMONES such as THYROXINE and transport them throughout the circulatory system.
A thioureylene antithyroid agent that inhibits the formation of thyroid hormones by interfering with the incorporation of iodine into tyrosyl residues of thyroglobulin. This is done by interfering with the oxidation of iodide ion and iodotyrosyl groups through inhibition of the peroxidase enzyme.
Inorganic binary compounds of iodine or the I- ion.
Predeciduous teeth present at birth. They may be well formed and normal or may represent hornified epithelial structures without roots. They are found on the gingivae over the crest of the ridge and arise from accessory buds of the dental lamina ahead of the deciduous buds or from buds of the accessory dental lamina. (From Jablonski, Dictionary of Dentistry, 1992)
The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)
The use of fluorescence spectrometry to obtain quantitative results for the FLUORESCENT ANTIBODY TECHNIQUE. One advantage over the other methods (e.g., radioimmunoassay) is its extreme sensitivity, with a detection limit on the order of tenths of microgram/liter.
Hypersecretion of THYROID HORMONES from the THYROID GLAND. Elevated levels of thyroid hormones increase BASAL METABOLIC RATE.
The ability to learn and to deal with new situations and to deal effectively with tasks involving abstractions.
A mass of histologically normal tissue present in an abnormal location.

Pertechnetate scintigraphy in primary congenital hypothyroidism. (1/303)

Primary congenital hypothyroidism (PCH) is currently detected effectively by heel-stick screening. When elevated thyrotropin (TSH) and/or decreased T4 are found in the blood of neonates, they are recalled, values are confirmed in venous blood and thyroxine replacement therapy (TRT) is immediately instituted, thus cretinism or severe retardation is prevented. However, in a significant percentage of neonates with abnormal blood levels of T4 or TSH, the disorder is transient. To help determine the exact cause of PCH and the possibility of transient PCH, pinhole thyroid imaging is performed 30 min after an intravenous injection of 18.5 MBq (500 microCi) 99mTc-pertechnetate (TcPT). Patients with a nonvisualized gland or patients with images suggesting dyshormonogenesis are reevaluated at age 3-4 y to exclude transient PCH. METHODS: To define the role of TcPT imaging in determining the exact etiology of PCH and the possibility of its being transient, we reviewed data from 103 neonates with PCH who had scintigraphy in our laboratory between 1970 and 1996 and we correlated the results with clinical outcome. RESULTS: Four patterns of thyroid scintigrams were recognized and these determined patient classification: (a) normal in 7 patients with false-positive heel-stick screening but normal venous blood hormone levels; (b) hypoplasia-ectopia in 32 patients requiring lifelong TRT; (c) nonvisualization in 35 patients-32 with agenesis requiring lifelong TRT and 3 with fetal thyroid suppression by maternal antibodies whose TRT was discontinued at a later age; and (d) dyshormonogenesis (markedly increased TcPT concentration) in 29 patients-25 with permanent PCH requiring lifelong TRT and 4 with transient PCH in whom TRT was discontinued. Of the 25 patients with dyshormonogenesis, 12 belonged to five families with two or three siblings having the same disorder. CONCLUSION: TcPT thyroid scintigraphy in the neonate with PCH provides a more specific diagnosis, is useful for selecting patients for re-evaluation to uncover transient PCH and discontinue TRT and defines dyshormonogenesis, which is familial and requires genetic counseling. It is also cost-effective.  (+info)

Structural defects of a Pax8 mutant that give rise to congenital hypothyroidism. (2/303)

Pax proteins are transcriptional regulators that play important roles during embryogenesis. These proteins recognize specific DNA sequences via a conserved element: the paired domain (Prd domain). The low level of organized secondary structure, in the free state, is a general feature of Prd domains; however, these proteins undergo a dramatic gain in alpha-helical content upon interaction with DNA ('induced fit'). Pax8 is expressed in the developing thyroid, kidney and several areas of the central nervous system. In humans, mutations of the Pax8 gene, which are mapped to the coding region of the Prd domain, give rise to congenital hypothyroidism. Here, we have investigated the molecular defects caused by a mutation in which leucine at position 62 is substituted for an arginine. Leu62 is conserved among Prd domains, and contributes towards the packing together of helices 1 and 3. The binding affinity of the Leu62Arg mutant for a specific DNA sequence (the C sequence of thyroglobulin promoter) is decreased 60-fold with respect to the wild-type Pax8 Prd domain. However, the affinities with which the wild-type and the mutant proteins bind to a non-specific DNA sequence are very similar. CD spectra demonstrate that, in the absence of DNA, both wild-type Pax8 and the Leu62Arg mutant possess a low alpha-helical content; however, in the Leu62Arg mutant, the gain in alpha-helical content upon interaction with DNA is greatly reduced with respect to the wild-type protein. Thus the molecular defect of the Leu62Arg mutant causes a reduced capability for induced fit upon DNA interaction.  (+info)

Early cellular abnormalities induced by RET/PTC1 oncogene in thyroid-targeted transgenic mice. (3/303)

The RET/PTC1 oncogene, a rearranged form of the RET proto-oncogene, has been reported to be associated with human papillary thyroid carcinomas. We have shown that targeted expression of RET/PTC1 in the thyroid gland leads to the development of thyroid carcinomas in transgenic mice with histologic and cytologic similarities to human papillary thyroid carcinoma. To further investigate how RET/PTC1 expression contributes to the pathogenesis of papillary thyroid tumor, the time of tumor onset and the early phenotypic consequences of RET/PTC1 expression in thyrocytes were determined. All high copy transgenic mice developed bilateral thyroid tumors as early as 4 days of age. At embryological days 16-18, increased proliferation rate, distorted thyroid follicle formation and reduced radioiodide concentrating activity were identified in transgenic embryos. The reduced radioiodide concentrating activity was attributed to decreased expression of the sodium-iodide symporter. Our study showed that RET/PTC1 not only increased proliferation of thyrocytes, it also altered morphogenesis and differentiation. These findings provide a model for the role of RET/PTC1 in the formation of abnormal follicles with reduced iodide uptake ability observed in human papillary thyroid carcinoma.  (+info)

Intellectual outcome at 12 years of age in congenital hypothyroidism. (4/303)

BACKGROUND: The intellectual outcome in children with congenital hypothyroidism detected by neonatal screening is generally good; however, subtle neurological dysfunctions, subnormal IQ, or both, have been reported. OBJECTIVE: To evaluate the intellectual outcome in 12-year-old patients with congenital hypothyroidism, detected by neonatal screening, in an attempt to identify factors that may affect intellectual development. METHODS: The intelligence quotient (IQ) of 40 children with congenital hypothyroidism was evaluated at 12 years of age, using the Wechsler Intelligence Scale for Children -- Revised, and compared with the IQ of 40 healthy siblings (control group). RESULTS: The mean IQ score (88.4+/-13.1) was not significantly different from that of the control group (93.4+/-10.7). Thirteen patients showed subnormal IQ score (72.4+/-4.9) compared with their siblings (86.7+/-9.6; P<0.0001) and with the other patients (96.1+/-9.6; P<0.0001). The low IQ score was associated with lower serum concentrations of thyroxine at diagnosis, poor treatment compliance during follow-up and lower familial IQ. Interviews with parents of children with congenital hypothyroidism revealed that a refusal to acknowledge the disease was linked to poor attention to the child's emotional life and to poor treatment compliance in some cases (11%). CONCLUSION: Even though the mean IQ score in patients with congenital hypothyroidism falls within normal for the control population, low IQ scores may be present in patients with severe hypothyroidism, inadequate compliance to replacement therapy during follow-up and poor parental pedagogic attitude.  (+info)

Iodine and neuropsychological development. (5/303)

The establishment of the essential link among iodine deficiency, thyroid function and brain development has emerged from a fascinating combination of clinical, epidemiologic and experimental studies. The central human phenomenon that focuses this relationship is the condition of endemic cretinism, described from the Middle Ages and characterized in its fully developed form by severe brain damage, deaf mutism and a spastic state of the hands and feet. The demonstration of the prevention of cretinism in a double-blind controlled trial with injections of iodized oil in Papua New Guinea (1966-1970) established the causal role of iodine deficiency in cretinism by an effect on the developing fetal brain. Cretinism could not be prevented unless the iodized oil was given before pregnancy. Iodine deficiency is now regarded by the WHO as the most common preventable cause of brain damage in the world today, with at least 30 million suffering from this preventable condition. Since 1986 the international NGO, the International Council for Control of Iodine Deficiency Disorders, has worked closely as an expert group with WHO and UNICEF in assisting countries with a program of universal salt iodization for the elimination of iodine deficiency as a cause of brain damage by the year 2000. In 1996, WHO reported that 56% of the population of 83 developing countries now had adequate access to iodized salt. This represents an increase of 750 million since 1990 with protection of 12 million children.  (+info)

Thyroid stimulating hormone levels in cord blood are not influenced by non-thyroidal mothers' diseases. (6/303)

CONTEXT: Screening programs not only offer the opportunity to trace and treat almost all cases of congenital hypothyroidism but also mean large savings to the health system. However, carefully planned strategies are necessary to extend their benefits and reduce costs. OBJECTIVE: To determine the possible influence of maternal diseases that affect maternal-fetal placenta dynamics on primary thyroid stimulating hormone (TSH) screening for congenital hypothyroidism. DESIGN: Prospective non-randomized clinical trial with at least 3 months of follow-up. SETTING: A public university referral center [CAISM/Hospital das Clinicas, Faculty of Medicine, University of Campinas, Campinas, SP]. PARTICIPANTS: 415 neonates divided into 5 groups: eighty-three infants born from cardiac mothers; 98 from mothers that had toxemia; 54 of the mothers had diabetes mellitus; 40 were HIV positive and 140 had no diseases. INTERVENTION: All newborns had cord blood samples collected on filter paper at birth. MAIN MEASUREMENTS: TSH was measured from dried blood spots using a homemade immunofluorescence assay (sensitivity in dried blood spots = 0.1 mU/L). RESULTS: There was no significant difference in the mean TSH levels among the 5 groups. Moreover, TSH levels were around 5 mU/L in 48% of the newborns, indicating that our region is severely deficient in iodine. CONCLUSIONS: Our results indicate that primary TSH screening programs using cord blood are not affected by maternal diseases. We suggest that, besides its technical advantages over heel punctures with T4 primary approaches, neonatal screening using primary cord blood TSH may also be used as a monitoring tool for evaluation and control of iodine deficiency disorders (IDD).  (+info)

Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidism. (7/303)

OBJECTIVE: It is suggested that iodide organification defects account for 10% of all cases with congenital hypothyroidism (CH). One candidate gene for these defects is the thyroid peroxidase (TPO) gene. DESIGN: Exons 2, 8-10 and 14 of the TPO gene were examined in 30 patients with permanent CH without a family history of CH. This group was characterized by the presence of an orthotopic thyroid gland and elevated TSH levels. METHODS: The mutational screening was performed by single-strand conformational polymorphism followed by sequence analysis of fragments with abnormal migration patterns and by restriction enzyme analysis. RESULTS: In four patients we were able to identify mutations on both alleles which have not been described so far. One patient was a carrier of a new homozygous point mutation in exon 9 resulting in an exchange from Leu to Pro at codon 458. Another patient was found to be compound heterozygous for two mutations, a 20 bp duplication in exon 2 and a new mutation in exon 9 (Arg491His). Two brothers of consanguineous parents showed a homozygous T deletion in exon 14 at position 2512. CONCLUSIONS: Our findings confirm the genetic heterogeneity of TPO defects and support the suggested prevalence of organification defects.  (+info)

Longitudinal growth, sexual maturation and final height in patients with congenital hypothyroidism detected by neonatal screening. (8/303)

OBJECTIVE: To evaluate longitudinal growth, pubertal development and final height in patients with congenital hypothyroidism (CH) detected by a neonatal screening programme, and to identify factors potentially affecting growth outcome. PATIENTS: Fifty-five patients (41 females) detected by neonatal screening and followed longitudinally from the time of diagnosis and treatment (25+/-5 days) up to the age of 17+/-0.5 years were evaluated retrospectively. RESULTS: Pubertal development began and progressed normally in both males and females. In boys, a testicular volume of 4 ml was reached at 11.3+/-1.0 years. In girls breast enlargement (B2) occurred at a mean age of 10.3+/-1.2 years and the mean age of menarche was 12.5+/-1.2 years. The onset and the progression of puberty were independent of the aetiology, the severity of CH and the timing of the beginning of treatment. Girls treated with an initial amount of L-thyroxine (L-T4) greater than 8 microg/kg per day showed an earlier onset of puberty (B2 9.4+/-0.9 years; menarche 11.5+/-0.8 years) compared with girls treated with a lower initial dose of L-T4 (B2 10.5+/-1.2 years; menarche 12.6+/-1.2 years; P<0.02). However, both groups attained a similar final height (-0.1+/-1.0 SDS and 0.4+/-1.0 SDS, respectively), which in both cases was above the target height (P=0.03). All the patients in the study attained a mean final height (0.1+/-1.1 SDS) within the normal range for the reference population and above the target height (-0.9+/-0.9 SDS, P<0.0001). No significant relationship was found between final height and severity of CH at diagnosis, initial L-T4 dosage or aetiology of the defect. Patients with ectopic gland, thyroid aplasia or in situ gland attained a similar mean final height (0.1+/-1.1 SDS, 0.5+/-1.0 SDS and -0.5+/-1.0 SDS, respectively), which was in all cases greater than target height (-1.0+/-0.9, -0.6+/-0.8, -0.9+/-0.8 respectively; P<0.05). CONCLUSIONS: Our results suggest that conventional management of children with CH detected by neonatal screening leads to normal sexual development and normal adult height, and that the major factor determining height in these children is familial genetic growth potential.  (+info)

Congenital hypothyroidism is a medical condition characterized by the partial or complete absence of thyroid hormone production in the baby's body at birth. The thyroid gland, which is located in the front of the neck, produces hormones that are essential for normal growth and development of the brain and body.

Congenital hypothyroidism can occur due to various reasons such as the absence or abnormal development of the thyroid gland, or a defect in the production or regulation of thyroid hormones. In some cases, it may be caused by genetic mutations that affect the development or function of the thyroid gland.

If left untreated, congenital hypothyroidism can lead to mental and physical retardation, growth problems, and other health issues. Therefore, it is important to diagnose and treat this condition as early as possible, usually within the first few weeks of life. Treatment typically involves replacing the missing thyroid hormones with synthetic medications, which are safe and effective when administered under a doctor's supervision.

Hypothyroidism is a medical condition where the thyroid gland, which is a small butterfly-shaped gland located in the front of your neck, does not produce enough thyroid hormones. This results in a slowing down of the body's metabolic processes, leading to various symptoms such as fatigue, weight gain, constipation, cold intolerance, dry skin, hair loss, muscle weakness, and depression.

The two main thyroid hormones produced by the thyroid gland are triiodothyronine (T3) and thyroxine (T4). These hormones play crucial roles in regulating various bodily functions, including heart rate, body temperature, and energy levels. In hypothyroidism, the production of these hormones is insufficient, leading to a range of symptoms that can affect multiple organ systems.

Hypothyroidism can be caused by several factors, including autoimmune disorders (such as Hashimoto's thyroiditis), surgical removal of the thyroid gland, radiation therapy for neck cancer, certain medications, and congenital defects. Hypothyroidism is typically diagnosed through blood tests that measure levels of TSH (thyroid-stimulating hormone), T3, and T4. Treatment usually involves taking synthetic thyroid hormones to replace the missing hormones and alleviate symptoms.

Thyroid dysgenesis is a developmental disorder that affects the thyroid gland, which is a small butterfly-shaped gland located in the front of the neck. The thyroid gland is responsible for producing hormones that regulate metabolism, growth, and development.

In thyroid dysgenesis, the thyroid gland fails to develop properly during fetal development or early childhood. This can result in a range of abnormalities, including:

* Athyreosis: Complete absence of the thyroid gland.
* Hypoplasia: Underdevelopment of the thyroid gland, resulting in a smaller than normal gland.
* Ectopy: Displacement of the thyroid gland from its normal location in the neck to elsewhere in the body, such as the chest or tongue.
* Heterotopy: Presence of thyroid tissue in abnormal locations, such as within the thymus gland or along the course of the thyroglossal duct.

Thyroid dysgenesis can lead to hypothyroidism, a condition characterized by low levels of thyroid hormones in the body. Symptoms of hypothyroidism may include fatigue, weight gain, cold intolerance, constipation, dry skin, and depression. Treatment typically involves replacement therapy with synthetic thyroid hormones.

Neonatal screening is a medical procedure in which specific tests are performed on newborn babies within the first few days of life to detect certain congenital or inherited disorders that are not otherwise clinically apparent at birth. These conditions, if left untreated, can lead to serious health problems, developmental delays, or even death.

The primary goal of neonatal screening is to identify affected infants early so that appropriate treatment and management can be initiated as soon as possible, thereby improving their overall prognosis and quality of life. Commonly screened conditions include phenylketonuria (PKU), congenital hypothyroidism, galactosemia, maple syrup urine disease, sickle cell disease, cystic fibrosis, and hearing loss, among others.

Neonatal screening typically involves collecting a small blood sample from the infant's heel (heel stick) or through a dried blood spot card, which is then analyzed using various biochemical, enzymatic, or genetic tests. In some cases, additional tests such as hearing screenings and pulse oximetry for critical congenital heart disease may also be performed.

It's important to note that neonatal screening is not a diagnostic tool but rather an initial step in identifying infants who may be at risk of certain conditions. Positive screening results should always be confirmed with additional diagnostic tests before any treatment decisions are made.

Thyroxine (T4) is a type of hormone produced and released by the thyroid gland, a small butterfly-shaped endocrine gland located in the front of your neck. It is one of two major hormones produced by the thyroid gland, with the other being triiodothyronine (T3).

Thyroxine plays a crucial role in regulating various metabolic processes in the body, including growth, development, and energy expenditure. Specifically, T4 helps to control the rate at which your body burns calories for energy, regulates protein, fat, and carbohydrate metabolism, and influences the body's sensitivity to other hormones.

T4 is produced by combining iodine and tyrosine, an amino acid found in many foods. Once produced, T4 circulates in the bloodstream and gets converted into its active form, T3, in various tissues throughout the body. Thyroxine has a longer half-life than T3, which means it remains active in the body for a more extended period.

Abnormal levels of thyroxine can lead to various medical conditions, such as hypothyroidism (underactive thyroid) or hyperthyroidism (overactive thyroid). These conditions can cause a range of symptoms, including weight gain or loss, fatigue, mood changes, and changes in heart rate and blood pressure.

Thyrotropin, also known as thyroid-stimulating hormone (TSH), is a hormone secreted by the anterior pituitary gland. Its primary function is to regulate the production and release of thyroxine (T4) and triiodothyronine (T3) hormones from the thyroid gland. Thyrotropin binds to receptors on the surface of thyroid follicular cells, stimulating the uptake of iodide and the synthesis and release of T4 and T3. The secretion of thyrotropin is controlled by the hypothalamic-pituitary-thyroid axis: thyrotropin-releasing hormone (TRH) from the hypothalamus stimulates the release of thyrotropin, while T3 and T4 inhibit its release through a negative feedback mechanism.

Thyroid function tests (TFTs) are a group of blood tests that assess the functioning of the thyroid gland, which is a small butterfly-shaped gland located in the front of the neck. The thyroid gland produces hormones that regulate metabolism, growth, and development in the body.

TFTs typically include the following tests:

1. Thyroid-stimulating hormone (TSH) test: This test measures the level of TSH, a hormone produced by the pituitary gland that regulates the production of thyroid hormones. High levels of TSH may indicate an underactive thyroid gland (hypothyroidism), while low levels may indicate an overactive thyroid gland (hyperthyroidism).
2. Thyroxine (T4) test: This test measures the level of T4, a hormone produced by the thyroid gland. High levels of T4 may indicate hyperthyroidism, while low levels may indicate hypothyroidism.
3. Triiodothyronine (T3) test: This test measures the level of T3, another hormone produced by the thyroid gland. High levels of T3 may indicate hyperthyroidism, while low levels may indicate hypothyroidism.
4. Thyroid peroxidase antibody (TPOAb) test: This test measures the level of TPOAb, an antibody that attacks the thyroid gland and can cause hypothyroidism.
5. Thyroglobulin (Tg) test: This test measures the level of Tg, a protein produced by the thyroid gland. It is used to monitor the treatment of thyroid cancer.

These tests help diagnose and manage various thyroid disorders, including hypothyroidism, hyperthyroidism, thyroiditis, and thyroid cancer.

The thyroid gland is a major endocrine gland located in the neck, anterior to the trachea and extends from the lower third of the Adams apple to the suprasternal notch. It has two lateral lobes, connected by an isthmus, and sometimes a pyramidal lobe. This gland plays a crucial role in the metabolism, growth, and development of the human body through the production of thyroid hormones (triiodothyronine/T3 and thyroxine/T4) and calcitonin. The thyroid hormones regulate body temperature, heart rate, and the production of protein, while calcitonin helps in controlling calcium levels in the blood. The function of the thyroid gland is controlled by the hypothalamus and pituitary gland through the thyroid-stimulating hormone (TSH).

Thyroid hormones are hormones produced and released by the thyroid gland, a small endocrine gland located in the neck that helps regulate metabolism, growth, and development in the human body. The two main thyroid hormones are triiodothyronine (T3) and thyroxine (T4), which contain iodine atoms. These hormones play a crucial role in various bodily functions, including heart rate, body temperature, digestion, and brain development. They help regulate the rate at which your body uses energy, affects how sensitive your body is to other hormones, and plays a vital role in the development and differentiation of all cells of the human body. Thyroid hormone levels are regulated by the hypothalamus and pituitary gland through a feedback mechanism that helps maintain proper balance.

A newborn infant is a baby who is within the first 28 days of life. This period is also referred to as the neonatal period. Newborns require specialized care and attention due to their immature bodily systems and increased vulnerability to various health issues. They are closely monitored for signs of well-being, growth, and development during this critical time.

Goiter is a medical term that refers to an enlarged thyroid gland. The thyroid gland is a small, butterfly-shaped gland located in the front of your neck below the larynx or voice box. It produces hormones that regulate your body's metabolism, growth, and development.

Goiter can vary in size and may be visible as a swelling at the base of the neck. It can be caused by several factors, including iodine deficiency, autoimmune disorders, thyroid cancer, pregnancy, or the use of certain medications. Depending on the underlying cause and the severity of the goiter, treatment options may include medication, surgery, or radioactive iodine therapy.

Thyroglobulin is a protein produced and used by the thyroid gland in the production of thyroid hormones, primarily thyroxine (T4) and triiodothyronine (T3). It is composed of two subunits, an alpha and a beta or gamma unit, which bind iodine atoms necessary for the synthesis of the thyroid hormones. Thyroglobulin is exclusively produced by the follicular cells of the thyroid gland.

In clinical practice, measuring thyroglobulin levels in the blood can be useful as a tumor marker for monitoring treatment and detecting recurrence of thyroid cancer, particularly in patients with differentiated thyroid cancer (papillary or follicular) who have had their thyroid gland removed. However, it is important to note that thyroglobulin is not specific to thyroid tissue and can be produced by some non-thyroidal cells under certain conditions, which may lead to false positive results in some cases.

Triiodothyronine (T3) is a thyroid hormone, specifically the active form of thyroid hormone, that plays a critical role in the regulation of metabolism, growth, and development in the human body. It is produced by the thyroid gland through the iodination and coupling of the amino acid tyrosine with three atoms of iodine. T3 is more potent than its precursor, thyroxine (T4), which has four iodine atoms, as T3 binds more strongly to thyroid hormone receptors and accelerates metabolic processes at the cellular level.

In circulation, about 80% of T3 is bound to plasma proteins, while the remaining 20% is unbound or free, allowing it to enter cells and exert its biological effects. The primary functions of T3 include increasing the rate of metabolic reactions, promoting protein synthesis, enhancing sensitivity to catecholamines (e.g., adrenaline), and supporting normal brain development during fetal growth and early infancy. Imbalances in T3 levels can lead to various medical conditions, such as hypothyroidism or hyperthyroidism, which may require clinical intervention and management.

Iodide peroxidase, also known as iodide:hydrogen peroxide oxidoreductase, is an enzyme that belongs to the family of oxidoreductases. Specifically, it is a peroxidase that uses iodide as its physiological reducing substrate. This enzyme catalyzes the oxidation of iodide by hydrogen peroxide to produce iodine, which plays a crucial role in thyroid hormone biosynthesis.

The systematic name for this enzyme is iodide:hydrogen-peroxide oxidoreductase (iodinating). It is most commonly found in the thyroid gland, where it helps to produce and regulate thyroid hormones by facilitating the iodination of tyrosine residues on thyroglobulin, a protein produced by the thyroid gland.

Iodide peroxidase requires a heme cofactor for its enzymatic activity, which is responsible for the oxidation-reduction reactions it catalyzes. The enzyme's ability to iodinate tyrosine residues on thyroglobulin is essential for the production of triiodothyronine (T3) and thyroxine (T4), two critical hormones that regulate metabolism, growth, and development in mammals.

Iodine is an essential trace element that is necessary for the production of thyroid hormones in the body. These hormones play crucial roles in various bodily functions, including growth and development, metabolism, and brain development during pregnancy and infancy. Iodine can be found in various foods such as seaweed, dairy products, and iodized salt. In a medical context, iodine is also used as an antiseptic to disinfect surfaces, wounds, and skin infections due to its ability to kill bacteria, viruses, and fungi.

An insurance carrier, also known as an insurer or a policy issuer, is a company or organization that provides insurance coverage to individuals and businesses in exchange for premium payments. The insurance carrier assumes the financial risk associated with the policies it issues, agreeing to pay for covered losses or expenses as outlined in the insurance contract, such as a health insurance policy, car insurance policy, or life insurance policy.

Insurance carriers can be divided into two main categories: life and health insurance companies and property and casualty insurance companies. Life and health insurance companies focus on providing coverage for medical expenses, disability, long-term care, and death benefits, while property and casualty insurance companies offer protection against losses or damages to property (home, auto, etc.) and liabilities (personal injury, professional negligence, etc.).

The primary role of an insurance carrier is to manage the risks it assumes by pooling resources from its policyholders. This allows the company to pay for claims when they arise while maintaining a stable financial position. Insurance carriers also engage in various risk management practices, such as underwriting, pricing, and investment strategies, to ensure their long-term sustainability and ability to meet their obligations to policyholders.

Sodium Pertechnetate Tc 99m is a radioactive pharmaceutical preparation used in medical diagnostic imaging. It is a technetium-99m radiopharmaceutical, where technetium-99m is a metastable nuclear isomer of technetium-99, which emits gamma rays and has a half-life of 6 hours. Sodium Pertechnetate Tc 99m is used as a contrast agent in various diagnostic procedures, such as imaging of the thyroid, salivary glands, or the brain, to evaluate conditions like inflammation, tumors, or abnormalities in blood flow. It is typically administered intravenously, and its short half-life ensures that the radiation exposure is limited.

Soy milk is not a medical term, but it is a common term used to describe a plant-based milk alternative made from soybeans. Here's a brief description:

Soy milk is a beverage produced by soaking and grinding soybeans, then filtering the resulting mixture to remove solid particles. It is often consumed as a dairy substitute by individuals who are lactose intolerant or have milk allergies. Soy milk contains protein, carbohydrates, and fat, similar to cow's milk, but its nutritional profile may vary depending on the manufacturing process. Some brands of soy milk are fortified with calcium, vitamins B12, D, and riboflavin (B2) to resemble the nutritional content of cow's milk.

Please note that while soy milk can be a healthy alternative for many people, it may not be suitable for everyone, especially those with soy allergies or sensitivities. If you have any concerns about incorporating soy milk into your diet, consult a healthcare professional or a registered dietitian.

Thyrotropin receptors (TSHRs) are a type of G protein-coupled receptor found on the surface of cells in the thyroid gland. They bind to thyroid-stimulating hormone (TSH), which is produced and released by the pituitary gland. When TSH binds to the TSHR, it activates a series of intracellular signaling pathways that stimulate the production and release of thyroid hormones, triiodothyronine (T3) and thyroxine (T4). These hormones are important for regulating metabolism, growth, and development in the body. Mutations in the TSHR gene can lead to various thyroid disorders, such as hyperthyroidism or hypothyroidism.

Cranial fontanelles, also known as "soft spots," are the membrane-covered spaces between the bones of a newborn or infant's skull. There are six fontanelles in total: two anterior (frontal) fontanelles, two posterior (occipital) fontanelles, and two smaller sphenoid and mastoid fontanelles.

The anterior fontanelle is the most prominent and is located towards the front of the head. It typically measures about 1 to 2 inches in diameter at birth and closes by around 18-24 months of age as the bones of the skull grow together. The posterior fontanelle is smaller, located towards the back of the head, and usually closes by around 2 months of age.

The fontanelles allow for the baby's brain to grow rapidly during the first few months of life, and they also provide some flexibility during childbirth, allowing the skull bones to overlap and make it easier for the baby to pass through the birth canal. It is important to handle a newborn gently, especially around the fontanelles, as they are still developing and can be injured easily.

Phenylketonurias (PKU) is a genetic disorder characterized by the body's inability to properly metabolize the amino acid phenylalanine, due to a deficiency of the enzyme phenylalanine hydroxylase. This results in a buildup of phenylalanine in the blood and other tissues, which can cause serious neurological problems if left untreated.

The condition is typically detected through newborn screening and can be managed through a strict diet that limits the intake of phenylalanine. If left untreated, PKU can lead to intellectual disability, seizures, behavioral problems, and other serious health issues. In some cases, medication or a liver transplant may also be necessary to manage the condition.

Thyroxine-binding proteins (TBPs) are specialized transport proteins in the blood that bind and carry thyroid hormones, primarily Thyroxine (T4), but also Triiodothyronine (T3) to a lesser extent. The majority of T4 and T3 in the blood are bound to these proteins, while only a small fraction (0.03% of T4 and 0.3% of T3) remains unbound or free, which is the biologically active form that can enter cells and tissues to exert its physiological effects.

There are three main types of thyroxine-binding proteins:

1. Thyroxine-binding globulin (TBG): This is the major thyroid hormone transport protein, synthesized in the liver and accounting for approximately 70-80% of T4 and T3 binding. TBG has a high affinity but low capacity for thyroid hormones.
2. Transthyretin (TTR), also known as prealbumin: This protein accounts for around 10-20% of T4 and T3 binding. It has a lower affinity but higher capacity for thyroid hormones compared to TBG.
3. Albumin: This is the most abundant protein in the blood and binds approximately 15-20% of T4 and a smaller fraction of T3. Although albumin has a low affinity for thyroid hormones, its high concentration allows it to contribute significantly to their transport.

The binding of thyroid hormones to these proteins helps maintain stable levels in the blood and ensures a steady supply to tissues. Additionally, TBPs protect thyroid hormones from degradation and rapid clearance by the kidneys, thereby extending their half-life in the circulation.

Methimazole is an anti-thyroid medication that is primarily used to treat hyperthyroidism, a condition in which the thyroid gland produces excessive amounts of thyroid hormones. It works by inhibiting the enzyme thyroperoxidase, which is essential for the production of thyroid hormones. By blocking this enzyme, methimazole reduces the amount of thyroid hormones produced by the thyroid gland, helping to restore normal thyroid function.

Methimazole is available in oral tablet form and is typically taken two to three times a day. Common side effects of methimazole include nausea, vomiting, skin rashes, and joint pain. In rare cases, it can cause more serious side effects such as liver damage or agranulocytosis (a severe decrease in white blood cell count).

It is important to note that methimazole should only be used under the close supervision of a healthcare provider, as regular monitoring of thyroid function and potential side effects is necessary. Additionally, it may take several weeks or months of treatment with methimazole before thyroid function returns to normal.

Iodides are chemical compounds that contain iodine in the form of an iodide ion (I-). Iodide ions are negatively charged ions that consist of one iodine atom and an extra electron. Iodides are commonly found in dietary supplements and medications, and they are often used to treat or prevent iodine deficiency. They can also be used as expectorants to help thin and loosen mucus in the respiratory tract. Examples of iodides include potassium iodide (KI) and sodium iodide (NaI).

Natal teeth refer to teeth that are present in a newborn baby's mouth at the time of birth. They are considered to be prematurely erupted teeth, as they emerge before 20 weeks of age, which is the normal time range for primary (baby) teeth to appear. Natal teeth can vary in number, size, and development, ranging from small, peg-like teeth to fully formed ones.

These teeth are not common, occurring in only about 1 in every 2,000 to 3,000 births. In some cases, natal teeth may be loose or wobbly due to their premature eruption and lack of a well-developed root system. They can sometimes cause discomfort or irritation to the baby during breastfeeding or bottle feeding.

It is essential to have natal teeth evaluated by a healthcare professional, such as a pediatrician or dentist, to determine if they pose any risks or need removal. In some instances, natal teeth may be removed due to concerns about potential damage to the baby's tongue or risk of aspiration. However, if the teeth are stable and not causing any issues, they can often be left alone and will eventually fall out on their own as the child grows and develops.

Macroglossia is a medical term that refers to an abnormally large tongue in relation to the size of the oral cavity. It can result from various conditions, including certain genetic disorders (such as Down syndrome and Beckwith-Wiedemann syndrome), hormonal disorders (such as acromegaly), inflammatory diseases (such as amyloidosis), tumors or growths on the tongue, or neurological conditions. Macroglossia can cause difficulties with speaking, swallowing, and breathing, particularly during sleep. Treatment depends on the underlying cause but may include corticosteroids, radiation therapy, surgery, or a combination of these approaches.

A fluoroimmunoassay (FIA) is a type of biochemical test that uses fluorescence to detect and measure the presence or concentration of a specific component, such as a protein or hormone, in a sample. In a FIA, the sample is mixed with a reagent that contains a fluorescent label, which binds to the target component. When the mixture is exposed to light of a specific wavelength, the labeled component emits light at a different wavelength, allowing it to be detected and measured.

FIAs are often used in clinical laboratories to diagnose and monitor various medical conditions, as they can provide sensitive and accurate measurements of specific components in biological samples. They are also used in research settings to study the interactions between biomolecules and to develop new diagnostic tests.

Hyperthyroidism is a medical condition characterized by an excessive production and release of thyroid hormones from the thyroid gland, leading to an increased metabolic rate in various body systems. The thyroid gland, located in the front of the neck, produces two main thyroid hormones: triiodothyronine (T3) and thyroxine (T4). These hormones play crucial roles in regulating many bodily functions, including heart rate, digestion, energy levels, and mood.

In hyperthyroidism, the elevated levels of T3 and T4 can cause a wide range of symptoms, such as rapid heartbeat, weight loss, heat intolerance, increased appetite, tremors, anxiety, and sleep disturbances. Some common causes of hyperthyroidism include Graves' disease, toxic adenoma, Plummer's disease (toxic multinodular goiter), and thyroiditis. Proper diagnosis and treatment are essential to manage the symptoms and prevent potential complications associated with this condition.

I must clarify that I cannot provide a "medical definition" of intelligence, as intelligence is not a concept that is typically defined within the field of medicine. Intelligence is a term used to describe the ability to learn, understand, and make judgments or decisions based on reason, experience, and information. It is often measured through various cognitive abilities such as problem-solving, critical thinking, creativity, and knowledge acquisition.

The concept of intelligence is studied in many fields, including psychology, neuroscience, and education. In medicine, healthcare professionals may assess a person's cognitive abilities to better understand their health status or develop treatment plans. However, there is no specific "medical definition" for intelligence. Instead, it is a multifaceted concept that can be influenced by various genetic, environmental, and experiential factors.

A choristoma is a type of growth that occurs when normally functioning tissue is found in an abnormal location within the body. It is not cancerous or harmful, but it can cause problems if it presses on surrounding structures or causes symptoms. Choristomas are typically congenital, meaning they are present at birth, and are thought to occur due to developmental errors during embryonic growth. They can be found in various organs and tissues throughout the body, including the brain, eye, skin, and gastrointestinal tract.

... , copper engraving, 1815 Around the world, the most common cause of congenital hypothyroidism is ... Genetic types of nongoitrous congenital hypothyroidism include: Nongoitrous congenital hypothyroidism has been described as the ... levels to detect congenital hypothyroidism. Most children with congenital hypothyroidism correctly treated with thyroxine grow ... severe congenital hypothyroidism can lead to growth failure and permanent intellectual disability. Infants born with congenital ...
a usually congenital condition marked by physical stunting and intellectual disability and caused by severe hypothyroidism ... Cretinism: Congenital hypothyroidism (underactivity of the thyroid gland at birth), which results in growth retardation, ... "Congenital hypothyroidism: MedlinePlus Genetics". medlineplus.gov. Retrieved 2022-10-20. Pass, K. A.; Neto, E. C. (2009). " ... It is one cause of underactive thyroid function at birth, called congenital hypothyroidism, historically referred to as ...
Children with congenital hypothyroidism are treated supplementally with levothyroxine, which facilitates normal growth and ... Aberrations in prenatal development can result in various forms of thyroid dysgenesis which can cause congenital hypothyroidism ... Some forms of hypothyroidism can result in myxedema and severe cases can result in myxedema coma. Hypothyroidism is managed ... Infants with thyroid hormone deficiency (congenital hypothyroidism) can manifest problems of physical growth and development as ...
Tajima T, Nakamura A, Ishizu K (2013). "A novel mutation of IGSF1 in a Japanese patient of congenital central hypothyroidism ... Tajima T, Nakamura A, Ishizu K (2013). "A novel mutation of IGSF1 in a Japanese patient of congenital central hypothyroidism ... Tajima T, Nakamura A, Morikawa S, Ishizu K (Sep 2014). "Neonatal screening and a new cause of congenital central hypothyroidism ... Reynaert N, Braat E, de Zegher F (2015). "Congenital nystagmus and central hypothyroidism". International Journal of Pediatric ...
Bamforth JS, Hughes I, Lazarus J, John R (June 1986). "Congenital anomalies associated with hypothyroidism". Arch. Dis. Child. ... Bamforth JS, Hughes IA, Lazarus JH, Weaver CM, Harper PS (January 1989). "Congenital hypothyroidism, spiky hair, and cleft ... Kopp P (June 2002). "Perspective: genetic defects in the etiology of congenital hypothyroidism". Endocrinology. 143 (6): 2019- ...
In young horses, congenital hypothyroidism has been reported predominantly in Western Canada and has been linked with the ... "hypothyroidism". Dictionary.com Unabridged (Online). n.d. "hypothyroidism - definition of hypothyroidism in English from the ... In the United States, hypothyroidism occurs in 0.3-0.4% of people. Subclinical hypothyroidism, a milder form of hypothyroidism ... Primary hypothyroidism is about a thousandfold more common than central hypothyroidism. Central hypothyroidism is the name used ...
"Lissencephaly presenting with congenital hypothyroidism". Journal of Pediatric Endocrinology and Metabolism. 26 (11-12): 1175-7 ... Congenital infections like cytomegalovirus are also known to cause microlissencephaly. Both microlissencephaly and microcephaly ... The combination of lissencephaly with severe congenital microcephaly is designated as microlissencephaly only when the cortex ... Microlissencephaly (MLIS) is a rare congenital brain disorder that combines severe microcephaly (small head) with lissencephaly ...
Moltz KC, Postellon DC (1994). "Congenital hypothyroidism and mental development". Comprehensive Therapy. 20 (6): 342-346. PMID ... include measuring the level of TSH in the blood of a newborn infant as part of newborn screening for congenital hypothyroidism ...
The most commonly included disorders of the endocrine system are congenital hypothyroidism (CH) and congenital adrenal ... Congenital hypothyroidism was the second disease widely added in the 1970s. Guthrie and colleagues also developed bacterial ... Immunoassays measure thyroid hormones for the diagnosis of congenital hypothyroidism and 17α-hydroxyprogesterone for the ... Klein AH; Agustin AV; Foley TP (1974). "Successful laboratory screening for congenital hypothyroidism". Lancet. 2 (7872): 77-9 ...
Schoenmakers, N; Alatzoglou, KS; Chatterjee, VK; Dattani, MT (2015). "Recent advances in central congenital hypothyroidism". J ... Persani, L; Cangiano, B; Bonomi, M (1 January 2019). "The diagnosis and management of central hypothyroidism in 2018". ... Marlier, Joke; T'Sjoen, Guy; Kaufman, Jean; Lapauw, Bruno (October 2022). "Central hypothyroidism: are patients undertreated ... of TSHI in a reference population The TSH index is reduced in patients with secondary hypothyroidism resulting from thyrotropic ...
1 in 5,000 Congenital hypothyroidism (CH) > 1 in 5,000 Biotinidase deficiency (BIOT) > 1 in 75,000 Congenital adrenal ... Some states are now screening for more than 50 congenital conditions. Many of these are rare and unfamiliar to pediatricians ... Severe combined immune deficiency (SCID) - added in 2009 Critical congenital heart defects (Screened using pulse oximetry) - ... 1 in 50,000 Newborn screening by other methods than blood testing Congenital deafness (HEAR) > 1 in 5,000 The following ...
New England congenital hypothyroidism collaborative (November 1981). "Effects of neonatal screening for hypothyroidism: ... In some countries, newborn babies are tested for congenital hypothyroidism and treated immediately if the disease is detected, ... Choufoer JC, Kassenaar AA, Querido A (July 1960). "The syndrome of congenital hypothyroidism with defective dehalogenation of ... Moreno JC (2003). "Identification of novel genes involved in congenital hypothyroidism using serial analysis of gene expression ...
cite journal}}: Cite journal requires ,journal= (help) Bojanić, K; Acke, E; Jones, BR (2011-05-01). "Congenital hypothyroidism ... Dwarfism has the potential to be mistaken as congenital feline hypothyroidism. Signs such as disproportionate dwarfism, ... Jacobson, Teresa; Rochette, Judy (September 2018). "Congenital Feline Hypothyroidism With Partially Erupted Adult Dentition in ... such as congenital feline hypothyroidism, is causing symptoms similar to feline dwarfism. ...
A delay in closure is associated with congenital hypothyroidism. This article incorporates text in the public domain from page ...
... has been shown to interact with NK2 homeobox 1. The PAX8 gene is also associated congenital hypothyroidism due to thyroid ... "Structural defects of a Pax8 mutant that give rise to congenital hypothyroidism". The Biochemical Journal. 341 (1): 89-93. doi: ... in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and ... "PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis". Nature Genetics. 19 (1): 83-6. doi: ...
Congenital hypothyroidism caused by thyroid dysgenesis can be associated with PAX8. An ectopic thyroid, also called accessory ... It should not be confused with iodine deficiency, or with other forms of congenital hypothyroidism, such as thyroid ... August 2002). "A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and ... Thyroid dysgenesis is a cause of congenital hypothyroidism where the thyroid is missing, ectopic, or severely underdeveloped. ...
May 1999). "Young-Simpson syndrome: further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart ... Young-Simpson syndrome (YSS) is a rare congenital disorder with symptoms including hypothyroidism, heart defects, facial ... Young ID, Simpson K (November 1987). "Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe ... In a smaller number of cases, thyroid agenesis, hypothyroidism, intestinal malrotation, and respiratory difficulties are ...
... for developing a test for congenital hypothyroidism; biologist Yoshio Masui (1990) for work on cell division; physicist Kenneth ...
... and congenital hypothyroidism". N. Engl. J. Med. 347 (2): 95-102. doi:10.1056/NEJMoa012752. PMID 12110737. Chávez V, Mohri- ...
While at Indiana University, Rivkees initiated the Indiana Congenital Hypothyroidism Follow-up Program. While in Connecticut he ... For his work in the field of congenital adrenal hyperplasia and the publication of CAH: A Parent's Guide, he was awarded the ... He drafted seminal reports related to growth in juvenile acquired hypothyroidism, the use of radioactive iodine in the ... impacted clinical pediatric endocrinology with his description of the use of dexamethasone for the treatment of congenital ...
... and congenital hypothyroidism". N. Engl. J. Med. 347 (2): 95-102. doi:10.1056/NEJMoa012752. PMID 12110737. Geiszt M, Witta J, ... and congenital hypothyroidism". N. Engl. J. Med. 347 (2): 95-102. doi:10.1056/NEJMoa012752. PMID 12110737. "Entrez Gene: DUOX2 ... supported by the discovery of congenital hypothyroidism resultant from an inactivating mutation in the DUOX2 gene. The family ... Moreno JC, Visser TJ (2007). New phenotypes in thyroid dyshormonogenesis: hypothyroidism due to DUOX2 mutations. pp. 99-117. ...
Mutations of the THRA gene may cause nongoitrous congenital hypothyroidism-6, a subtype of congenital hypothyroidism. THR1 has ...
2005). "Genetic analysis of TTF-2 gene in children with congenital hypothyroidism and cleft palate, congenital hypothyroidism, ... Mutations in this gene cause Bamforth-Lazarus syndrome and are associated with congenital hypothyroidism and cleft palate with ... 2003). "A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft ... 2006). "A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis". J ...
Delange also performed research for neonatal screening for congenital hypothyroidism, using TSH levels as a marker for ... He performed field studies on goiter prevalence worldwide and performed pioneering research in early screening for congenital ... hypothyroidism. Delange studied at the Free University of Brussels (ULB) and graduated as M.D. in 1960. In 1973, he completed ... hypothyroidism. Furthermore, Delange was promoting ThyroMobil, an initiative to perform standardized thyroid volume measurement ...
Causes, such as congenital hypothyroidism, if detected early may be treated to prevent the development of an intellectual ... congenital hypothyroidism, Williams syndrome, phenylketonuria (PKU), and Prader-Willi syndrome. Other genetic conditions ... It is not specific to congenital disorders such as Down syndrome. The American Association on Mental Retardation changed its ... India has 500 million people with a deficiency, 54 million with goiter, and 2 million with congenital iodine deficiency. Among ...
2002). "Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the ... 2002). "Congenital central hypothyroidism due to homozygous thyrotropin beta 313 Delta T mutation is caused by a Founder effect ... 2004). "Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: ... 2004). "Compound heterozygous and homozygous mutations of the TSHbeta gene as a cause of congenital central hypothyroidism in ...
... among other congenital disorders. Hypothesis: "The newborns have phenylketonuria and hypothyroidism" Null Hypothesis (H0): "The ... Type II error (false negative): The true fact is that the newborns have phenylketonuria and hypothyroidism but we consider they ... For example, most states in the USA require newborns to be screened for phenylketonuria and hypothyroidism, ... The true fact is that the newborns do not have phenylketonuria and hypothyroidism but we consider they have the disorders ...
Immunoassays measure thyroid hormones for the diagnosis of congenital hypothyroidism and 17α-hydroxyprogesterone for the ... Thangaratinam, S.; Brown, K.; Zamora, J.; Khan, K. S.; Ewer, A. K. (2012). "Pulse oximetry screening for critical congenital ... There is also bedside testing for hearing loss using evoked auditory potentials and congenital heart defects using pulse ... diagnosis of congenital adrenal hyperplasia. Molecular techniques are used for the diagnosis of cystic fibrosis and severe ...
... for the introduction of iodised salt to prevent endemic goitre and universal newborn screening for congenital hypothyroidism in ...
Congenital hypothyroidism Infant respiratory distress syndrome Interstitial lung disease Persistent pulmonary hypertension of ... In addition, hypothyroidism can cause damaged production of NKX2.1 proteins, which can lead to insufficient transcription of ... "Unexplained neonatal respiratory distress due to congenital surfactant deficiency". The Journal of Pediatrics. 150 (6): 649-53 ...
Infants with sporadic congenital hypothyroidism show T4 concentrations in the umbilical cord suggesting the mother is still ... Maternal hypothyroidism is hypothyroidism in pregnant mothers. Even with appropriate treatment, it may pose risks not only to ... In a study of induced hypothyroidism in pregnant rats they were able to find lower levels of growth hormone in both the blood ... "Hypothyroidism in Pregnancy". American Thyroid Association. Retrieved 2020-10-29. Blazer S.; Moreh-Waterman Y.; Miller-Lotan R ...
Find symptoms and other information about Congenital hypothyroidism. ... Congenital hypothyroidism can be a symptom included in a larger genetic disorder called a syndrome.Congenital hypothyroidism is ... Congenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. Most cases of Congenital ... Congenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. Most cases of Congenital ...
... can result in profound cognitive and developmental delays in infants and children unless diagnosed ... Is this increase a result of a true increase in the number of children born with congenital hypothyroidism, new screening ... Harris and Pass (2007) identified an increase during the past two decades of primary congenital hypothyroidism in children in ... Recent published reports indicate an increase in congenital hypothyroidism in the United States. ...
Congenital hypothyroidism, copper engraving, 1815 Around the world, the most common cause of congenital hypothyroidism is ... Genetic types of nongoitrous congenital hypothyroidism include: Nongoitrous congenital hypothyroidism has been described as the ... levels to detect congenital hypothyroidism. Most children with congenital hypothyroidism correctly treated with thyroxine grow ... severe congenital hypothyroidism can lead to growth failure and permanent intellectual disability. Infants born with congenital ...
... hypothyroidism) that affects infants from birth (congenital). Explore symptoms, inheritance, genetics of this condition. ... Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland ( ... medlineplus.gov/genetics/condition/congenital-hypothyroidism/ Congenital hypothyroidism. ... Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants ...
Congenital hypothyroidism is inadequate thyroid hormone production in newborn infants. This can occur because of an anatomic ... encoded search term (Congenital Hypothyroidism) and Congenital Hypothyroidism What to Read Next on Medscape ... Stoll C, Dott B, Alembik Y, Koehl C. Congenital anomalies associated with congenital hypothyroidism. Ann Genet. 1999. 42(1):17- ... Trimarchi F, Gemelli M, Benvenga S, Genova R, De Luca F. Transient congenital hypothyroidism in an infant with congenital ...
... provides information about congenital hypothyroidism, which occurs when a newborn infant is born without the ability to make ... What is congenital hypothyroidism?. Hypothyroidism refers to an underactive thyroid gland. Congenital hypothyroidism occurs ... What causes congenital hypothyroidism?. Congenital hypothyroidism most often occurs when the thyroid gland does not develop ... How is congenital hypothyroidism diagnosed?. Given the difficulty in diagnosing congenital hypothyroidism in the newborn period ...
... hypothyroidism) that affects infants from birth (congenital). Explore symptoms, inheritance, genetics of this condition. ... Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland ( ... medlineplus.gov/genetics/condition/congenital-hypothyroidism/ Congenital hypothyroidism. ... Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants ...
What Is Congenital Hypothyroidism?. Kids can have hypothyroidism too. When a baby is born with it, its called congenital ... What Causes Congenital Hypothyroidism?. Most cases of congenital hypothyroidism happen because the thyroid doesnt form ... What Are the Signs & Symptoms of Congenital Hypothyroidism?. Early signs of congenital hypothyroidism in a baby include:. * ... How Is Congenital Hypothyroidism Treated?. A child with hypothyroidism will take thyroid hormone to make up for what the ...
Learn about congenital hypothyroidism, previously cretinism, including definition and symptoms. ... babies are born with congenital hypothyroidism.. The introduction of iodized salt in the early 20th century made congenital ... Congenital hypothyroidism. (2018).. https://ghr.nlm.nih.gov/condition/congenital-hypothyroidism#synonyms. ... Congenital hypothyroidism refers to a thyroid deficiency in an infant.. Myxedema can also be used to describe skin changes ...
There was a significant association between parental consanguinity and congenital hypothyroidism [‎P = 0.006]‎; congenital ... Parental consanguinity among parents of neonates with congenital hypothyroidism in Isfahan. View/. Open. 13_3_2007_567_574.pdf ... We determined the prevalence of congenital hypothyroidism and the rate of consanguinity among parents of hypothyroid neonates ... 2007)‎. Parental consanguinity among parents of neonates with congenital hypothyroidism in Isfahan. EMHJ - Eastern ...
... of radioactive fallout from Fukushima on the health of babies born in California shows a significant excess of hypothyroidism ...
The aim of this study was to compare pregnancy outcomes in women with a history of congenital hypothyroidism to women without ... It is unclear whether the cause of the hypothyroidism in the mother is associated with problems during pregnancy. ... Inadequately treated hypothyroidism in the mother has been associated with negative pregnancy outcomes. ... Congenital hypothyroidism refers to hypothyroidism detected shortly after birth. Fortunately, congenital hypothyroidism is ...
Congenital hypothyroidism (CH) is the commonest preventable cause of mental retardation in human species. It is so important ... Congenital Hypothyroidism Mohammad Al-Qahtani. J Matern Fetal Neonatal Med. 2022 Oct. ... Congenital Hypothyroidism. Brady J, Cannupp A, Myers J, Jnah AJ. Brady J, et al. Neonatal Netw. 2021 Nov 1;40(6):377-385. doi: ... Late Diagnosis of Congenital Hypothyroidism in Young Adult. Pramono LA, Yuwono A. Pramono LA, et al. Acta Med Indones. 2019 Jul ...
NICHD-supported researchers developed a similar screening method for congenital hypothyroidism (CH). CH is a metabolic ... NICHD-supported researchers developed a similar screening method for congenital hypothyroidism (CH). CH is a metabolic ...
Screening for Congenital Hypothyroidism. Chin Shern Lau, Roy Joseph, Tar Choon Aw ...
Vet Suggestion Regarding Congenital Female Hypothyroidism. Hello Jennifer,. Wow. What a tale! Little Rupert is awfully lucky to ... Congenital Feline Hypothyroidism and that she was going to run some tests on his thyroid before she sent him home. They kept ... Congenital hypothyroidism is extremely rare. I have seen one case in my career. It is very unlikely that you will find a ... they have never had a single case of congenital feline hypothyroidism and how rare it truly is. I would very much like to have ...
Italian Study Group for Congenital Hypothyroidism: Congenital hypothyroidism due to defects of thyroid development and mild ... Italian Study Group for Congenital Hypothyroidism: Multiple factors influencing the incidence of congenital hypothyroidism ... Factors distinguishing between transient and permanent hypothyroidism in patients diagnosed as congenital hypothyroidism by ... Early Discrimination between Transient and Permanent Congenital Hypothyroidism in Children with Eutopic Gland Subject Area: ...
Congenital hypothyroidism is one of the preventable causes of mental retardation if diagnosed within first 3 months of life. ... Diseases and Conditions › Laboratory Medicine › Congenital Hypothyroidism- Neonatal Screening Congenital Hypothyroidism- ... congenital-hypothyroidism-neonatal-screening&url=congenital-hypothyroidism-neonatal-screening-introduction 2001-12-12 2001-12- ... The diagnosis of congenital hypothyroidism must be confirmed by the measurement of serum T4 and TSH concentrations at 2-6 weeks ...
Li W, Song D, Sun Y, Lv Y and Lv J: microRNA-124-3p inhibits the progression of congenital hypothyroidism via targeting ... Liu Q, Li Y and Zhou Y: MicroRNA‑489‑3p plays a significant role in congenital hypothyroidism through regulating neuronal cell ... Liu, Q., Li, Y., Zhou, Y.MicroRNA‑489‑3p plays a significant role in congenital hypothyroidism through regulating neuronal ... Liu, Q., Li, Y., Zhou, Y.MicroRNA‑489‑3p plays a significant role in congenital hypothyroidism through regulating neuronal ...
... for congenital hypothyroidism (CH) started in the 1970s, with the introduction of radioimmuno assays (RIA) for the measurement ... Newborn Screening for Congenital Hypothyroidism-Clinical Evaluation and Comparison of Two Different Test Kits for the ... Newborn screening (NBS) for congenital hypothyroidism (CH) started in the 1970s, with the introduction of radioimmuno assays ( ...
BACKGROUND: A cluster of cases of congenital hypothyroidism with goiter (CHG) in Tenterfield Terriers was identified and ... BACKGROUND: A cluster of cases of congenital hypothyroidism with goiter (CHG) in Tenterfield Terriers was identified and ...
Lack of protective effect of breast-feeding in congenital hypothyroidism: report of 12 cases J Letarte, H Guyda, J H Dussault, ... Lack of protective effect of breast-feeding in congenital hypothyroidism: report of 12 cases J Letarte et al. Pediatrics. 1980 ... Reflections on mental retardation and congenital hypothyroidism: effects of trace mineral deficiencies]. Sidibé el H. Sidibé el ... It is concluded that breast-feeding does not protect against the deleterious effects of congenital hypothyroidism,. ...
Is there an association between exposure to excess iodine and the development of hypothyroidism among infants with congenital ... Hypothyroidism in Infants With Congenital Heart Disease Exposed to Excess Iodine. Vidhu V. Thaker; Marjorie F. Galler; Audrey C ... Infants exposed to excess iodine are at risk of developing hypothyroidism, especially those with congenital heart disease (CHD ... Table 2. Univariate Predictors of Hypothyroidism Variable. Infants With Hypothyroidism. Euthyroid Infants. P Value. ...
Screening, diagnosis and management of congenital hypothyroidism: European Society for Paediatric Endocrinology Consensus ... Screening, diagnosis and management of congenital hypothyroidism: European Society for Paediatric Endocrinology Consensus ... Screening, diagnosis and management of congenital hypothyroidism: European Society for Paediatric Endocrinology Consensus ...
The prevalence of congenital hypothyroidism per 10 000 live births was calculated, and a case-control analysis conducted. ... Infants identified with congenital hypothyroidism were significantly more likely to have other birth defects (particularly ... RESULTS: The prevalence of congenital hypothyroidism was 1.74 per 10 000 in the period 1981-1987, compared with 3.54 per 10 000 ... METHODOLOGY: Population-based registers and databases were used to identify cases of congenital hypothyroidism in 1981-1998 (n ...
Congenital hypothyroidism. Most infants with congenital hypothyroidism are asymptomatic during the neonatal period or display ... The signs of acquired hypothyroidism can include many physical findings observed with congenital hypothyroidism, such as the ... Detection of congenital hypothyroidism based on signs and symptoms alone may be delayed until age 6-12 weeks or older because ... Congenital hypothyroidism: etiology and growth-development outcome. Acta Med Iran. 2014 Oct. 52(10):752-6. [QxMD MEDLINE Link] ...
Dr Vinod K Abichandani answers frequently asked questions about thyroid dysfunction in children In the recent past,
CALDONAZZO, Anelise et al. Assisted assessment in children with congenital hypothyroidism. Rev. psicopedag. [online]. 2009, vol ... Palavras-chave : Problem solving; Congenital hypothyroidism; Educational measurement; Cognition. · resumo em Português · texto ... The objective of this study was to evaluate the executive functioning of children diagnosed with congenital hypothyroidism ...
As long as congenital hypothyroidism is diagnosed with in the first 2-4 weeks of birth and treatment is started there is no ... Symptoms of low blood sugar are similar to those of congenital hypothyroidism so it never crossed anyones mind that it was ... Approximately 1 in 3000-4000 babies are born with Congenital Hypothyroidism, and it is more common in girls than boys. This is ... Sometimes a diagnosis of congenital hypothyroidism is only temporary. A newborns thyroid function can be suppressed because of ...
Congenital Hypothyroidism [See Dosage and Administration (2.3, 2.4)] Rapid restoration of normal serum T4 concentrations is ... Pediatric Dosage-Congenital or Acquired Hypothyroidism The recommended daily dose of levothyroxine sodium tablets in pediatric ... In patients with congenital hypothyroidism, assess the adequacy of replacement therapy by measuring both serum TSH and total or ... Hypothyroidism: As replacement therapy in primary (thyroidal), secondary (pituitary), and tertiary (hypothalamic) congenital or ...
  • Changes in this gene are the primary cause of central hypothyroidism. (medlineplus.gov)
  • When the serum TSH and the free T4 levels are low in the outpatient setting, the case for central hypothyroidism is strengthened. (medscape.com)
  • It is classified as either primary or secondary/tertiary (central) hypothyroidism. (rroij.com)
  • Central hypothyroidism is a rare cause of hypothyroidism [ 4 ] and refers to defects in the production of thyroid stimulating hormone (TSH) due either to hypothalamic or pituitary dysfunction. (rroij.com)
  • Congenital central hypothyroidism can also be caused by inadequate treatment of maternal Graves' hyperthyroidism during pregnancy [ 8 , 9 ]. (rroij.com)
  • Of note, thyroid-stimulating hormone is not elevated in central hypothyroidism. (keywen.com)
  • Another rare cause is central hypothyroidism. (msdmanuals.com)
  • In a small proportion of cases of congenital hypothyroidism, the defect is due to a deficiency of thyroid-stimulating hormone, either isolated or as part of congenital hypopituitarism. (wikipedia.org)
  • Genetic causes account for about 15 to 20 percent of cases of congenital hypothyroidism. (medlineplus.gov)
  • Most cases of congenital hypothyroidism are sporadic, which means they occur in people with no history of the disorder in their family. (medlineplus.gov)
  • Most cases of congenital hypothyroidism happen because the thyroid doesn't form correctly in the baby during pregnancy. (kidshealth.org)
  • About half of cases of congenital hypothyroidism occur because the thyroid gland is missing, underdeveloped, or developed in the wrong place. (msdmanuals.com)
  • Because the treatment is simple, effective, and inexpensive, most of the developed world utilizes newborn screening with blood thyroid stimulating hormone (TSH) levels to detect congenital hypothyroidism. (wikipedia.org)
  • In the era before newborn screening, less than half of cases of severe hypothyroidism were recognized in the first month of life. (wikipedia.org)
  • Congenital hypothyroidism is inadequate thyroid hormone production in newborn infants. (medscape.com)
  • The screening programs, along with physician education and improved screening techniques, such as radioimmunoassay, helped significantly reduce the incidence of abnormal newborn development resulting from untreated congenital hypothyroidism. (asu.edu)
  • Newborn Screening for Congenital Hypothyroidism-Clinical Evaluation and Comparison of Two Different Test Kits for the Determination of TSH in Dried Blood Samples on Two Different Platforms. (physiciansweekly.com)
  • Newborn screening (NBS) for congenital hypothyroidism (CH) started in the 1970s, with the introduction of radioimmuno assays (RIA) for the measurement of thyroxine (T4), and thyroid stimulating hormone (TSH). (physiciansweekly.com)
  • Newborn screening for congenital hypothyroidism involves a heel stick. (childrenshospital.org)
  • Although newborn screening can identify congenital hypothyroidism and lead to prompt treatment, an estimated 70 percent of newborns worldwide are born in regions that don't perform universal screening. (childrenshospital.org)
  • Newborn screening is important to prevent complications of congenital hypothyroidism because it can lead to an early diagnosis, effective treatment, and ongoing follow-up. (childrenshospital.org)
  • You have just learned that your baby has had a borderline (slightly abnormal) newborn screen for congenital adrenal hyperplasia (CAH). (nsu.govt.nz)
  • This information will answer some of your questions about a borderline positive (slightly abnormal) newborn screen for congenital hypothyroidism (CH). (nsu.govt.nz)
  • Update of newborn screening and therapy for congenital hypothyroidism. (keywen.com)
  • Congenital hypothyroidism occurs when a newborn does not make enough thyroid hormone . (keywen.com)
  • Congenital hypothyroidism affects a ratio of 1 in 4000 newborn babies and used to be a major cause of mental disabilities. (thyroid.ca)
  • Hypothyroidism in the Newborn Hypothyroidism is decreased production of thyroid hormone. (msdmanuals.com)
  • Hypothyroidism in the newborn may occur if there is a structural problem with the thyroid gland. (msdmanuals.com)
  • The word "cretinism" is an old term for the state of mental and physical retardation resulting from untreated congenital hypothyroidism, usually due to iodine deficiency from birth because of low iodine levels in the soil and local food sources. (wikipedia.org)
  • Mutations in other genes that have not been as well characterized can also cause congenital hypothyroidism. (medlineplus.gov)
  • TOPIC: Dyshormonogenesis and congenital hypothyroidism Title: Mutations in the iodotyrosine deiodinase gene and hypothyroidism. (thyroidmanager.org)
  • Here, we describe three cases of loss-of-function mutations in the nicotinamide adenine dinucleotide phosphate (NADPH)-oxidase (NOX) domain of dual oxidase 2 (DUOX2) occurring along with concurrent missense mutations in thyroid peroxidase (TPO), leading to transient congenital hypothyroidism (CH). Three Japanese boys with nonconsanguineous parents were diagnosed with CH during their neonatal screenings. (elsevierpure.com)
  • Context: Gene mutations of transcription factors that are predominantly expressed in the thyroid gland cause congenital hypothyroidism (CH). The prevalence of CH due to transcription factor mutations remains undetermined. (elsevierpure.com)
  • Congenital hypothyroidism mutations affect common folding and trafficking in the α/β-hydrolase fold proteins. (hal.science)
  • This is the case for the thyroglobulin mutations linked to congenital hypothyroidism. (hal.science)
  • Congenital hypothyroidism (CH) due to dyshormonogenesis may occur due to mutations in any of the key genes involved in thyroid hormone biosynthesis (TG, TPO, DUOX2, DUOXA2, SLC5A5, IYD, SLC26A4 and SLC26A7). (jcrpe.org)
  • The presence of a bilobed thyroid in the appropriate position or a goiter would suggest either an inborn error of thyroid hormone production or transient hypothyroidism or hyperthyrotropinemia. (medscape.com)
  • Congenital Hypothyroidism with Goiter in Toy Fox Terriers. (wisdompanel.com)
  • CNS hypomyelination in rat terrier dogs with congenital goiter and a mutation in the thyroid peroxidase gene. (wisdompanel.com)
  • In his 1991 article "Screening for Congenital Hypothyroidism," Delbert A. Fisher in the US reported on the implementation and impact of mass neonatal screening programs for congenital hypothyroidism (CH) from the early 1970s through 1991. (asu.edu)
  • Thyroid scanning is not required to make or confirm the diagnosis of congenital hypothyroidism, but it can provide important information about the etiology. (medscape.com)
  • Since the outcomes of congenital hypothyroidism depend on starting treatment as soon as possible after diagnosis, diagnostic studies to determine the etiology of congenital hypothyroidism are usually delayed after the age of three years, or not done at all, which may cause uncertainty in the patient and lack of adequate genetic counseling. (thyroid.org)
  • The etiology of transient hypothyroidism is often unclear. (medscape.com)
  • Considering the limitations of time and accessibility of radioisotope scanning and benefits and faults of ultrasonography in determination of etiology of CH, the aim of this study was to determine the usefulness of sonography as compared to the gold standard imaging method of scintigraphy, in the diagnosis of etiology of primary congenital hypothyroidism in the screening program of Isfahan. (ac.ir)
  • The Symptoms Of Hypothyroidism The thyroid is the butterfly-shaped gland at the base of your neck. (thehypothyroidismrevolution.net)
  • Patients with positive thyroid autoantibodies but a normal TSH level should be followed up periodically to monitor for symptoms of hypothyroidism and to detect any rise in their TSH or cholesterol levels. (medscape.com)
  • Brown RS, Bellisario RL, Botero D, Fournier L, Abrams CA, Cowger ML. Incidence of transient congenital hypothyroidism due to maternal thyrotropin receptor-blocking antibodies in over one million babies. (medscape.com)
  • Incidence of transient congenital hypothyroidism due to maternal thyrotropin receptor-blocking antibodies in over one million babies. (keywen.com)
  • In the United States and many other countries, all hospitals test newborns for congenital hypothyroidism. (medlineplus.gov)
  • Congenital hypothyroidism affects an estimated 1 in 2,000 to 4,000 newborns. (medlineplus.gov)
  • Congenital hypothyroidism is estimated to occur in 1:1700 newborns in the most recent literature and, if left untreated or if treatment is delayed, it irreversibly affects brain development. (thyroid.org)
  • Congenital hypothyroidism (CH) is a condition characterized by an inadequate production of thyroid hormones among newborns. (symptoma.com)
  • Gastroschisis, is a prevalently encountered congenital disease of the newborns where intraabdominal organs protrude through a full-thickness defect in the anterior abdominal wall without an overlying sac. (medscidiscovery.com)
  • All newborns in the U.S. are tested for congenital hypothyroidism. (medlineplus.gov)
  • Stoll C, Dott B, Alembik Y, Koehl C. Congenital anomalies associated with congenital hypothyroidism. (medscape.com)
  • Mount Sinai has Canada's largest fetal therapy program and trainees gain extensive experience in antenatal counselling and perinatal care of infants born with congenital anomalies or requiring in-utero fetal procedures. (torontocentreforneonatalhealth.com)
  • Associated congenital anomalies were found in 13% of cases. (rroij.com)
  • Dharmraj M and Verma AP.Gastroschisis associated with lower limb and spinal congenital anomalies. (medscidiscovery.com)
  • WHO estimates that some 260 000 deaths worldwide (about 7% of all neonatal deaths) were caused by congenital anomalies in 2004.3 They are most prominent as a cause of death in settings where overall mortality rates are lower, for example in the European Region, where as many as 25% of neonatal deaths are due to congenital anomalies. (who.int)
  • Haemoglobinophathies (including thalassaemia and sickle-cell disease) and glucose-6-phosphate dehydrogenase deficiency, which are not covered by the ICD-10 definition of congenital anomalies, account for 6% of all congenital disorders. (who.int)
  • However, existing figures indicate that work on reducing the incidence of and mortality associated with congenital anomalies needs to be linked to efforts to achieve the Millennium Development Goal 4 target of a two thirds reduction in the mortality rate of children under five years of age between 1990 and 2015. (who.int)
  • Global incidence of congenital hypothyroidism (CH) in live births is 1:3000-4000. (medscidiscovery.com)
  • Considerable uncertainties remain as to the incidence of and mortality attributable to congenital disorders, especially in countries that lack adequate registration of deaths. (who.int)
  • Among the 17 patients with primary congenital hypothyroidism 5 of them (29.4 %) were diagnosed to have disgenetic thyroid tissue and 12 (70.6%) as having dyshormonogenesis. (nih.gov)
  • Congenital hypothyroidism is a disorder in which babies are born with low thyroid hormone levels, either because the thyroid did not develop properly (thyroid dysgenesis) or because the thyroid has problems in one of the needed steps to make thyroid hormones (thyroid dyshormonogenesis). (thyroid.org)
  • Thyroid ultrasound and thyroid scintigraphy have been used to determine the cause of congenital hypothyroidism, whether due to dyshormonogenesis or dysgenesis. (thyroid.org)
  • In some instances, hypothyroidism detected by screening may be transient. (wikipedia.org)
  • Now it is expected that neonatal screening program in Bosnia and Herzegovina Federation will contribute to the detection of primary congenital hypothyroidism in early days of life. (nih.gov)
  • However, until an effective screening test is not yet routine in whole country, paediatricians should consider the diagnosis of hypothyroidism whenever it is clinically suggested. (nih.gov)
  • He published "Screening for Congenital Hypothyroidism" in Trends in Endocrinology & Metabolism in 1991. (asu.edu)
  • Fisher continues in the first section of "Screening for Congenital Hypothyroidism," by highlighting neonatal screening programs for mass populations around the world. (asu.edu)
  • In the second section of "Screening for Congenital Hypothyroidism," Fisher describes a continuum of neonatal thyroid dysfunction. (asu.edu)
  • Klein AH, Agustin AV, Foley TP Jr. Successful laboratory screening for congenital hypothyroidism. (medscape.com)
  • Letter: Neonatal screening for hypothyroidism. (medscape.com)
  • Dussault JH, Parlow A, Letarte J, Guyda H, Laberge C. TSH measurements from blood spots on filter paper: a confirmatory screening test for neonatal hypothyroidism. (medscape.com)
  • To diagnose the cause of congenital hypothyroidism following positive screening. (scot.nhs.uk)
  • Screening for hypothyroidism involves a blood test that measures thyroid hormone (thyroxine, or T4) and serum TSH (thyroid-stimulating hormone) levels. (keywen.com)
  • Screening for congenital hypothyroidism is routine in Canada. (thyroid.ca)
  • The aim of our study was to determine recorded gestational age, neonate's sex, the prevalence of congenital hypothyroidism weight, height, head circumference and in our region by screening for the disorder nationality and parental consanguinity (1st in Isfahan. (who.int)
  • Metabolism Research Centre for screening genital hypothyroidism is high in our re- after discharge from hospitals on the 3rd-7th gion. (who.int)
  • They were requested to give prevalence of congenital hypothyroidism, the questionnaire to the executive commit- we compared parental consanguinity of all tee of congenital hypothyroidism screening referred neonates with that of neonates with in the Centre. (who.int)
  • A new study finds congenital hypothyroidism in the US rising 28 % in the two and a half months after the arrival of the Fukushima fallout of radioactive iodine (I-131) [1]. (thyroidnation.com)
  • Treatment with radioactive iodine for hyperthyroidism (overactive thyroid) can result in hypothyroidism. (keywen.com)
  • There is a higher risk of congenital malformations associated with congenital hypothyroidism. (symptoma.com)
  • and a variety of surgical conditions, many of which require urgent surgery, and congenital malformations. (torontocentreforneonatalhealth.com)
  • A study published in 2013 reported that the risk of developing an associated chronic disease in patients with CH was twice that of the reference population, and neurological or mental diseases and congenital malformations were the most frequent sequelae [ 11 ]. (rroij.com)
  • The International statistical classification of diseases and related health problems, tenth revision (ICD-10), includes birth defects in Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities. (who.int)
  • It enables the timely deployment of primary prevention interventions which aim to prevent teratogen-induced birth defects (including those caused by congenital syphilis and rubella), defects caused by iodine deficiency disorder, neural tube defects (and possibly other malformations), and maternal-age-related chromosomal disorders (e.g. (who.int)
  • The most common cause of hypothyroidism is Hashimoto's thyroiditis, a disease of the thyroid gland where the body's immune system attacks the gland. (keywen.com)
  • The most common cause of hypothyroidism is the body's autoimmune reaction to itself, producing antibodies against the thyroid gland. (keywen.com)
  • Failure of the pituitary gland to secrete a hormone to stimulate the thyroid gland ( secondary hypothyroidism) is a less common cause of hypothyroidism. (keywen.com)
  • Hashimoto's thyroiditis is the most common cause of hypothyroidism in the United States. (medicalnewstoday.com)
  • Hashimoto's disease is a common cause of hypothyroidism. (medlineplus.gov)
  • These cases are classified as central (or pituitary) hypothyroidism. (medlineplus.gov)
  • In patients with central (ie, pituitary or hypothalamic) hypothyroidism, T4 levels rather than TSH levels are used to guide treatment. (medscape.com)
  • The TSH level is also elevated in subclinical hypothyroidism and is usually the initial laboratory abnormality detected as the pituitary gland attempts to increase thyroid hormone production from the failing thyroid gland. (medscape.com)
  • In the outpatient setting, when there is no cause to suspect hypothalamic or pituitary disease and in the absence of nonthyroidal illness and of medications that suppress TSH production in the inpatient setting, a normal TSH level excludes primary hypothyroidism from any cause. (medscape.com)
  • Insufficient pituitary gland functioning can also instigate hypothyroidism. (keywen.com)
  • Most children with congenital hypothyroidism correctly treated with thyroxine grow and develop normally in all respects. (wikipedia.org)
  • citation needed] Congenital hypothyroidism can also occur due to genetic defects of thyroxine or triiodothyronine synthesis within a structurally normal gland. (wikipedia.org)
  • Outcome of lower L-thyroxine dose for treatment of congenital hypothyroidism. (medscape.com)
  • The treatment goals for hypothyroidism are to reverse clinical progression and correct metabolic derangements, as evidenced by normal blood levels of thyroid-stimulating hormone (TSH) and free thyroxine (T4). (medscape.com)
  • According to these results, Centre on the 3rd-7th day of birth and congenital hypothyroidism was diagnosed serum thyroxine (T ) and thyroid stimu- and patients underwent treatment. (who.int)
  • Primary congenital hypothyroidism is a common preventable cause of mental retardation. (nih.gov)
  • Congenital hypothyroidism (CH) is the most prevalent preventable cause of mental retardation. (ac.ir)
  • Congenital hypothyroidism is one of the This was a descriptive study carried out most preventable causes of mental retarda- from May 2002 to April 2005 and all ne- tion. (who.int)
  • Removal of the thyroid gland because of cancer or other thyroid disorders can result in hypothyroidism. (keywen.com)
  • Depending on the direction of change, this can result in hypothyroidism or hyperthyroidism. (medicalnewstoday.com)
  • Diagnosis of hypothyroidism is based on the patient's observations, medical history, physical examination, and thyroid function tests. (keywen.com)
  • Blood tests are always used to confirm a diagnosis of hypothyroidism or mild hypothyroidism. (keywen.com)
  • citation needed] Causes of congenital hypothyroidism include iodine deficiency and a developmental defect in the thyroid gland, either due to a genetic defect or of unknown cause. (wikipedia.org)
  • Congenital hypothyroidism, copper engraving, 1815 Around the world, the most common cause of congenital hypothyroidism is iodine deficiency, but in most of the developed world and areas of adequate environmental iodine, cases are due to a combination of known and unknown causes. (wikipedia.org)
  • ICD-10 uses "congenital iodine deficiency syndrome" with additional specifiers for the various types. (wikipedia.org)
  • Severe iodine deficiency is another major cause of hypothyroidism. (keywen.com)
  • Endemic goitre , the most common, is due to iodine deficiency, which causes a reduction in thyroid hormone synthesis (hypothyroidism). (keywen.com)
  • To give guidance for ongoing management and monitoring of infants and children with congenital hypothyroidism. (scot.nhs.uk)
  • Hypothyroidism (or underactive thyroid ) is when the thyroid gland doesn't make enough thyroid hormone. (kidshealth.org)
  • Congenital hypothyroidism is a medical condition that occurs when a baby is born with an underactive thyroid gland. (childhoodcancer2012.org.uk)
  • Congenital hypothyroidism is usually caused by a baby being born with an absent or underactive thyroid gland. (childrenshospital.org)
  • Hypothyroidism is the medical term for an underactive thyroid gland that does not produce enough hormone. (medicalnewstoday.com)
  • Neonatal hypothyroidism has been reported in cases of infants exposed to lithium, a mood stabilizer used to treat bipolar disorder, in utero. (wikipedia.org)
  • This congenital disorder causes no pathologic consequence but should be recognized to avoid unnecessary thyroid hormone administration. (medscape.com)
  • There are currently no sound estimates of the number of children born with a serious congenital disorder attributable to genetic or environmental causes. (who.int)
  • Three studies in our country, in Fars prov- approached all newly delivered mothers ince, Tehran and Isfahan, have reported in the hospitals and explained to them the a high prevalence of congenital hypothy- disorder, its complications and the method roidism [8-10]. (who.int)
  • Up to 15% of patients aged 65 years or older may have subclinical hypothyroidism (mild thyroid failure, as evidenced by an elevated TSH above 4.0 μ IU/mL and normal free T4 levels), with few if any symptoms suggestive of hypothyroidism. (medscape.com)
  • The total T4 or free T4 usually remain within reference ranges in subclinical hypothyroidism. (medscape.com)
  • Regarding the thyroid, definitely the patient has autoimmune thyroiditis with subclinical hypothyroidism. (keywen.com)
  • If you have mild (subclinical) hypothyroidism, you may not need treatment but should be watched for signs of hypothyroidism getting worse. (keywen.com)
  • Infants born with congenital hypothyroidism may show no effects, or may display mild effects that often go unrecognized as a problem: excessive sleeping, reduced interest in nursing, poor muscle tone, low or hoarse cry, infrequent bowel movements, significant jaundice, and low body temperature. (wikipedia.org)
  • Pediatricians should be aware of the various clinical presentations of congenital hypothyroidism, particularly prolonged neonatal jaundice. (rroij.com)
  • 35 wk gestation) infants may have profound abnormalities of thyroid function at birth, but they may not have permanent hypothyroidism, even in infants with birth weights of greater than 1500 grams. (medscape.com)
  • Objectives: To determine the various clinical presentations of and abnormalities associated with congenital hypothyroidism among children diagnosed at King Abdulaziz University Hospital (KAUH), Jeddah, Western Region, Saudi Arabia. (rroij.com)
  • Methods: A retrospective, descriptive study of congenital hypothyroidism and associated abnormalities was conducted in Jeddah, Saudi Arabia from January 2010 to January 2015 and included 173 children aged 0 to 12 months. (rroij.com)
  • reported a high prevalence this project was derived by calculating the of permanent congenital hypothyroidism ratio of the number of referred neonates to and parental consanguinity among patients live births. (who.int)
  • This type of hypothyroidism occurs in about 1 in 1,700 to 3,500 live births. (msdmanuals.com)
  • If maternal antibody-mediated hypothyroidism is suspected, maternal and neonatal antithyroid antibodies may confirm the diagnosis. (medscape.com)
  • Passage of maternal thyroid hormone through the placenta to the infant is one of the reasons that leads late diagnosis of congenital hypothyroidism. (symptoma.com)
  • Maternal antibodies to the TSH receptor can also cause temporary hypothyroidism. (medscape.com)
  • Zakarija M, McKenzie JM, Eidson MS. Transient neonatal hypothyroidism: characterization of maternal antibodies to the thyrotropin receptor. (medscape.com)
  • Deprivation of the maternal thyroid hormones due to hypothyroidism can have devastating effects on the fetus. (keywen.com)
  • Detection, early in pregnancy, may prevent the harmful effects of maternal hypothyroidism on the fetus. (keywen.com)
  • The mainstay in the treatment of congenital hypothyroidism is early diagnosis and thyroid hormone replacement. (medscape.com)
  • Influence of timing and dose of thyroid hormone replacement on development in infants with congenital hypothyroidism. (medscape.com)
  • Bongers - Schokking, JJ & Schrama, S 2005, ' Influence of timing and dose of thyroid hormone replacement on mental, psychomotor, and behavioral development in children with congenital hypothyroidism ', Journal of Pediatrics , pp. 768-774. (eur.nl)
  • Results: Of the 173 diagnosed cases, primary hypothyroidism was most common (95% of cases), while secondary hypothyroidism was diagnosed in 5% of cases. (rroij.com)
  • In the five areas closest to the Chernobyl nuclear meltdown, the highest prevalence of hypothyroidism in children was found in Gomel, the area most heavily exposed. (thyroidnation.com)
  • Congenital hypothyroidism (CH) is a common endocrine disease, with a worldwide prevalence of 1:3500-1:5000, and prevalence in Saudi Arabia of 1:2500 [ 1 ]. (rroij.com)
  • This study was done to determine whether ultrasound of the thyroid could have a role in the early diagnosis of congenital hypothyroidism and to determine whether delaying ultrasound could provide misleading information. (thyroid.org)
  • It is important to diagnose congenital hypothyroidism as soon as possible, as early diagnosis and treatment are essential to ensure proper development. (childhoodcancer2012.org.uk)
  • Signs of hypothyroidism (e.g. coarse facies, hoarse cry, umbilical hernia). (scot.nhs.uk)
  • Congenital Adrenal Hyperplasia Education & Support Network. (wa.gov)
  • Affected babies may show no features of the condition, although some babies with congenital hypothyroidism are less active and sleep more than normal. (medlineplus.gov)
  • Without proper amounts of this hormone, babies born with congenital hypothyroidism may experience slowed physical development, delayed mental and social skills, and a range of health issues. (childhoodcancer2012.org.uk)
  • levels are invariably raised in hypothyroidism due to Hashimoto thyroiditis and in primary hypothyroidism from any cause. (medscape.com)
  • Patients with hypothyroidism due to Hashimoto's thyroiditis have an elevated level of serum TSH (thyroid stimulating hormone ). (keywen.com)
  • People with congenital hypothyroidism have lower-than-normal levels of these important hormones. (medlineplus.gov)
  • Signs and symptoms of congenital hypothyroidism result from the shortage of thyroid hormones. (medlineplus.gov)
  • The resulting shortage of thyroid hormones disrupts normal growth, brain development, and metabolism, leading to the features of congenital hypothyroidism. (medlineplus.gov)
  • Congenital hypothyroidism (CH) is an endocrine disease resulting from lack of thyroidal hormones in the organism. (bvsalud.org)
  • Hypothyroidism is the condition in which the thyroid is underactive (i.e., it is producing an insufficient amount of thyroid hormones). (keywen.com)
  • Hypothyroidism means the thyroid is underactive, producing insufficient amounts of thyroid hormones. (keywen.com)
  • In underdeveloped countries, a chronic lack of iodine in a diet (the thyroid needs iodine to produce thyroid hormones) is a major cause of hypothyroidism. (keywen.com)
  • Hypothyroidism Hypothyroidism is underactivity of the thyroid gland that leads to inadequate production of thyroid hormones and a slowing of vital body functions. (msdmanuals.com)
  • Diagnosis of primary hypothyroidism is confirmed by demonstrating decreased levels of serum thyroid hormone (total or free T4) and elevated levels of thyroid-stimulating hormone (TSH). (medscape.com)
  • Therefore, the purpose of this study was to emphasize the presenting clinical features of primary congenital hypothyroidism at the age of diagnosis. (nih.gov)
  • The study population included 17 children with primary congenital hypothyroidism who attended the Department of Pediatrics, University Clinical Center Tuzla between 1986 and 1999. (nih.gov)
  • In the presence of suggestive symptoms and physical findings, a serum TSH test is needed for the diagnosis of primary hypothyroidism, and it serves to assess the functional status of the thyroid. (medscape.com)
  • A low total T4 or free T4 level in the presence of an elevated TSH level further confirms the diagnosis of primary hypothyroidism. (medscape.com)
  • Primary hypothyroidism affects the whole body and may cause a variety of symptoms. (keywen.com)
  • Without treatment, children with congenital hypothyroidism can develop permanent mental disabilities. (kidshealth.org)
  • Children with congenital hypothyroidism can sometimes develop hearing problems. (kidshealth.org)
  • LaFranchi SH, Austin J. How should we be treating children with congenital hypothyroidism? (medscape.com)
  • I have been talking to parents and grandparents of children who were diagnosed with congenital hypothyroidism for several years now. (thyroidmom.com)
  • Dive into the research topics of 'How should we be treating children with congenital hypothyroidism? (elsevierpure.com)
  • In children with hypothyroidism, an x-ray of the hand and wrist (knee in infants) may be taken to determine the degree of delayed bone growth. (thyroid.ca)
  • Children with complex congenital heart disease and a functional single ventricle may not be ideal candidates for a Fontan procedure. (annals.edu.sg)
  • children had a known underlying condition: congenital hypothyroidism (n = 1) and HIV infection (n = 1). (cdc.gov)
  • Hypothyroidism in children usually occurs when there is a structural problem with the thyroid gland or the thyroid gland is inflamed. (msdmanuals.com)
  • [ 20 ] A recent case-control study of children exposed to ICM showed an increased risk of incident hypothyroidism and called for the identification of comorbidities that predispose to thyroid dysfunction in vulnerable subgroups of children. (medscape.com)
  • The cause of the most common type of congenital hypothyroidism, thyroid dysgenesis, is usually unknown. (medlineplus.gov)
  • What Are the Signs & Symptoms of Congenital Hypothyroidism? (kidshealth.org)
  • However, rarely cases could be missed, so doctors must be aware of the earl symptoms and signs of hypothyroidism. (nih.gov)
  • Decreased activity, difficulty in feeding, constipation or hypotonia are the other common symptoms and signs seen in congenital hypothyroidism [18]. (symptoma.com)
  • Please note: It is possible that disease signs similar to the ones caused by the Congenital Hypothyroidism mutation could develop due to a different genetic or clinical cause. (wisdompanel.com)
  • A total of 44 patients with a diagnosis of congenital hypothyroidism from the state of Minas Gerais, Brazil, were invited to have thyroid US at the Universidade Federal do Triângulo Mineiro in Uberaba, Brazil. (thyroid.org)
  • When you have yourself into mononuclear download congenital hypothyroidism a bibliography and dictionary for physicians patients change with your Current Broader Perspective, you will be into the service that speaks projects, and you will download heard by the radical Update that you' krankheit from those around you. (freiplan-ingenieure.de)
  • The Friends of Adams Farm not had a download congenital hypothyroidism a bibliography and dictionary for physicians patients and genome researchers target to represent Studies of equations. (freiplan-ingenieure.de)
  • In a retrospective study, we further illustrate the application of PVP for the interpretation of whole exome sequencing data in patients suffering from congenital hypothyroidism. (plos.org)
  • In a retrospective study, we apply PVP to the interpretation of whole exome sequencing data in patients suffering from congenital hypothyroidism, and find that PVP accurately identifies causative variants in whole exome and whole genome sequencing datasets and provides a powerful resource for the discovery of causal variants. (plos.org)
  • All patients presented with moderate-to-severe neonatal hypothyroidism and were diagnosed with transient CH after re-evaluation of thyroid function. (elsevierpure.com)
  • Treatment guidelines for patients with hyperthyroidism and hypothyroidism. (keywen.com)
  • All were receiving treatment and were considered to have congenital hypothyroidism, except for 1 patient, whose elevation in TSH was transient and had resolved. (thyroid.org)
  • Living with congenital hypothyroidism can be challenging, but it is important to follow the doctor's instructions to ensure proper treatment and development. (childhoodcancer2012.org.uk)
  • A meta-analysis of randomized, controlled trials of T4-triiodothyronine (T3) combination therapy versus T4 monotherapy for treatment of clinical hypothyroidism found no difference in effectiveness between combination therapy and monotherapy with respect to side effects such as bodily pain, depression, fatigue, body weight, anxiety, quality of life, and total low-density lipoprotein (LDL) and high-density lipoprotein (HDL) cholesterol and triglyceride levels. (medscape.com)
  • The study treatment of congenital hypothyroidism can was designed in collaboration with paediat- prevent its hazards [1]. (who.int)
  • Congenital hypothyroidism can also occur as part of syndromes that affect other organs and tissues in the body. (medlineplus.gov)
  • On thyroid scanning (using technetium-99m or iodine-123), the absence of radionuclide uptake suggests sporadic athyreotic hypothyroidism but can also occur when uptake is blocked by excess iodide or thyroid receptor-blocking antibodies. (medscape.com)
  • Neurodevelopmental outcomes in congenital hypothyroidism: comparison of initial T4 dose and time to reach target T4 and TSH. (medscape.com)
  • If untreated for several months after birth, severe congenital hypothyroidism can lead to growth failure and permanent intellectual disability. (wikipedia.org)
  • If untreated, congenital hypothyroidism can lead to intellectual disability and slow growth. (medlineplus.gov)
  • A carrier dog with one copy of the Congenital Hypothyroidism mutation can be safely bred with a clear dog with no copies of the Congenital Hypothyroidism mutation. (wisdompanel.com)
  • About half of the puppies will have one copy (carriers) and half will have no copies of the Congenital Hypothyroidism mutation. (wisdompanel.com)