Cessation of ovarian function after MENARCHE but before the age of 40, without or with OVARIAN FOLLICLE depletion. It is characterized by the presence of OLIGOMENORRHEA or AMENORRHEA, elevated GONADOTROPINS, and low ESTRADIOL levels. It is a state of female HYPERGONADOTROPIC HYPOGONADISM. Etiologies include genetic defects, autoimmune processes, chemotherapy, radiation, and infections.
The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration.
The premature cessation of menses (MENSTRUATION) when the last menstrual period occurs in a woman under the age of 40. It is due to the depletion of OVARIAN FOLLICLES. Premature MENOPAUSE can be caused by diseases; OVARIECTOMY; RADIATION; chemicals; and chromosomal abnormalities.
A RNA-binding protein that is found predominately in the CYTOPLASM. It helps regulate GENETIC TRANSLATION in NEURONS and is absent or under-expressed in FRAGILE X SYNDROME.
Pathological processes of the OVARY.
A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)
An increased number of contiguous trinucleotide repeats in the DNA sequence from one generation to the next. The presence of these regions is associated with diseases such as FRAGILE X SYNDROME and MYOTONIC DYSTROPHY. Some CHROMOSOME FRAGILE SITES are composed of sequences where trinucleotide repeat expansion occurs.
The reproductive organ (GONADS) in female animals. In vertebrates, the ovary contains two functional parts: the OVARIAN FOLLICLE for the production of female germ cells (OOGENESIS); and the endocrine cells (GRANULOSA CELLS; THECA CELLS; and LUTEAL CELLS) for the production of ESTROGENS and PROGESTERONE.
An OOCYTE-containing structure in the cortex of the OVARY. The oocyte is enclosed by a layer of GRANULOSA CELLS providing a nourishing microenvironment (FOLLICULAR FLUID). The number and size of follicles vary depending on the age and reproductive state of the female. The growing follicles are divided into five stages: primary, secondary, tertiary, Graafian, and atretic. Follicular growth and steroidogenesis depend on the presence of GONADOTROPINS.
A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GALACTOKINASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; or UDPGLUCOSE 4-EPIMERASE. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency, and presents in infancy with FAILURE TO THRIVE; VOMITING; and INTRACRANIAL HYPERTENSION. Affected individuals also may develop MENTAL RETARDATION; JAUNDICE; hepatosplenomegaly; ovarian failure (PRIMARY OVARIAN INSUFFICIENCY); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3)
Absence of menstruation.
Defects in the SEX DETERMINATION PROCESS in 46, XY individuals that result in abnormal gonadal development and deficiencies in TESTOSTERONE and subsequently ANTIMULLERIAN HORMONE or other factors required for normal male sex development. This leads to the development of female phenotypes (male to female sex reversal), normal to tall stature, and bilateral streak or dysgenic gonads which are susceptible to GONADAL TISSUE NEOPLASMS. An XY gonadal dysgenesis is associated with structural abnormalities on the Y CHROMOSOME, a mutation in the GENE, SRY, or a mutation in other autosomal genes that are involved in sex determination.
A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Descriptive anatomy based on three-dimensional imaging (IMAGING, THREE-DIMENSIONAL) of the body, organs, and structures using a series of computer multiplane sections, displayed by transverse, coronal, and sagittal analyses. It is essential to accurate interpretation by the radiologist of such techniques as ultrasonic diagnosis, MAGNETIC RESONANCE IMAGING, and computed tomography (TOMOGRAPHY, X-RAY COMPUTED). (From Lane & Sharfaei, Modern Sectional Anatomy, 1992, Preface)
Conditions in which the production of adrenal CORTICOSTEROIDS falls below the requirement of the body. Adrenal insufficiency can be caused by defects in the ADRENAL GLANDS, the PITUITARY GLAND, or the HYPOTHALAMUS.
A transcription factor and member of the nuclear receptor family NR5 that is expressed throughout the adrenal and reproductive axes during development. It plays an important role in sexual differentiation, formation of primary steroidogenic tissues, and their functions in post-natal and adult life. It regulates the expression of key steroidogenic enzymes.
Diminished or absent ability of a female to achieve conception.
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.

Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data. (1/374)

The preliminary results of an international collaborative study examining premature menopause in fragile X carriers are presented. A total of 760 women from fragile X families was surveyed about their fragile X carrier status and their menstrual and reproductive histories. Among the subjects, 395 carried a premutation, 128 carried a full mutation, and 237 were noncarriers. Sixty-three (16%) of the premutation carriers had experienced menopause prior to the age of 40 compared with none of the full mutation carriers and one (0.4%) of the controls. Based on these preliminary data, there is a significant association between fragile X premutation carrier status and premature menopause.  (+info)

Serum concentrations of follicle stimulating hormone may predict premature ovarian failure in FRAXA premutation women. (2/374)

It is now recognized that female carriers of fragile X premutations are at increased risk of premature ovarian failure. We have studied 51 premenopausal women from fragile X families, to determine whether premutation carriers have variations in the hormonal markers of menopause, compared to full mutations and controls. We found a significant increase in serum follicle stimulating hormone in premutation carriers, suggesting that as a group they will enter menopause before full mutation carriers and unaffected controls. These results have important implications for fertility in these women.  (+info)

Ovarian failure and flares of systemic lupus erythematosus. (3/374)

OBJECTIVE: To study the effects of ovarian failure on disease flares in systemic lupus erythematosus (SLE). METHODS: Fifty-four female premenopausal SLE patients who were under the age of 45 years and treated with continuous oral cyclophosphamide (CYC) for no more than 12 months were studied. All patients had been followed up for >5 years following CYC treatment. Demographic characteristics, clinical and serologic profiles, and information concerning disease flares were recorded. Comparison of the number of severe and mild/moderate flares during the first 5 years after CYC treatment was made between patients who developed CYC-induced ovarian failure and those who did not. RESULTS: Fourteen SLE patients had documented ovarian failure with hypoestrogenemia within 2 years after CYC treatment. Compared with the menstruating group of patients, those who developed ovarian failure were significantly older at the time of CYC therapy (mean 37.9 versus 25.5 years; P < 0.001), but otherwise no significant differences in organ manifestations and autoantibody profiles between the 2 groups were observed. Both the ovarian failure group and menstruating group of patients had similar SLE Disease Activity Index scores at the time of CYC treatment (mean 15.6 versus 17.7; P = 0.16), and had comparable treatment durations (mean 8.2 versus 7.8 months; P = 0.68) and cumulative doses of CYC (mean 20.4 versus 17.9 grams; P = 0.34). Flares of SLE were uncommon during the first year following CYC administration. However, during the 5-year followup period, patients who developed CYC-induced ovarian failure had significantly fewer severe flares (mean 0.014 versus 0.075 flares/patient-year; P = 0.01) and smaller total number of flares (mean 0.128 versus 0.250 flares/patient-year; P = 0.03) when compared with those who were still menstruating. CONCLUSION: This study provides an important clinical observation to support the notion that ovarian failure with hypoestrogenemia is protective against lupus flares and emphasizes the importance of estrogen status in the determination of disease activity in SLE.  (+info)

Anti-nuclear antibodies in patients with premature ovarian failure. (4/374)

We examined the prevalence of anti-nuclear antibodies (ANA) in 32 consecutive patients with premature ovarian failure with and without chromosomal abnormalities. Blood samples were taken for karyotype determination as well as detection of autoantibodies, X-terminal microdeletions and spontaneous follicular growth. The correlation between ANA positivity and the age at onset of amenorrhoea, as well as the presence of karyotype abnormalities, X-terminal microdeletions and follicular growth was determined. Ten of the 24 patients with normal karyotype and none of the 8 patients with karyotype abnormalities were ANA positive. ANA were found more frequently in patients with premature ovarian failure with normal karyotypes than in control amenorrhoeic patients (42 versus 6, P < 0.01). ANA were found in 77% (10/13) of premature ovarian failure patients with normal karyotypes who developed amenorrhoea at or under the age of 30 years, but not in the patients who developed amenorrhoea later in life. Follicular growth was evident in 50% (5/10) of karyotypically normal patients with ANA, 71% (10/14) of karyotypically normal patients without ANA and 38% (3/8) of patients with karyotype abnormalities. X-terminal microdeletions were not found in any of the patients studied. These results suggest that patients with premature ovarian failure and ANA are an aetiologically and clinically distinct group.  (+info)

Treatment of autoimmune premature ovarian failure. (5/374)

There is no known immunosuppressive therapy for autoimmune premature ovarian failure that has been proven safe and effective by prospective randomized placebo-controlled study. Nevertheless, immunosuppression using corticosteroids has been used on an empirical basis for this condition. Here we present two cases of young women with premature ovarian failure who were treated with glucocorticoids in the hopes of restoring fertility. The first case illustrates the potential benefit of such therapy, and the second case illustrates a potential risk. The first patient with histologically proven autoimmune oophoritis was treated with alternate day glucocorticoid treatment. She had return of menstrual bleeding six times and ovulatory progesterone concentrations four times over a 16 week period. The second patient with presumed but unconfirmed autoimmune ovarian failure was referred to us after having been treated with a 9 month course of corticosteroids. During that treatment her menses did not resume. The corticosteroid treatment was complicated by iatrogenic Cushing syndrome and osteonecrosis of the knee. Identifying patients with autoimmune premature ovarian failure presents the opportunity to restore ovarian function by treating these patients with the proper immune modulation therapy. On the other hand, potent immune modulation therapy can have major complications. Corticosteroid therapy for autoimmune premature ovarian failure should be limited to use in placebo-controlled trials designed to evaluate the safety and efficacy of such treatment.  (+info)

Subclinical depletion of primordial follicular reserve in mice treated with cyclophosphamide: clinical importance and proposed accurate investigative tool. (6/374)

Studies have shown that ovarian failure is a common side-effect of chemotherapy treatment; however, continuation of regular menses post-treatment does not necessarily imply that the ovaries have escaped damage. This animal study measures directly the primordial follicle (PMF) loss following exposure to chemotherapy and evaluates reproductive outcome following significant destruction of the PMF population. Inbred Balb/c mice aged 5-6 weeks were administered different doses of an alkylating agent, cyclophosphamide, and the total number of PMF remaining in both ovaries was counted. Results show that cyclophosphamide causes PMF destruction in proportion to increasing dose (P = 0.0001). Reproductive performance was assessed after exposure to 75 mg/kg cyclophosphamide, a dose which destroys approximately 50% of PMF reserve, by evaluation of ovulation, mating and pregnancy rates. Reproductive potential of treated mice was not affected compared with controls despite the significant loss of PMF. Our results indicate that reproductive performance is not an accurate parameter for assessing ovarian injury. Rather, histological counting of PMF number more directly reflects the damage caused by chemotherapy to the ovary. This method can be used as a sensitive, inexpensive tool to gauge the damage to fertility caused by new chemotherapy agents or protocols.  (+info)

Oocyte apoptosis: like sand through an hourglass. (7/374)

Although the study of germ cell death is arguably still in its infancy as a field, several recent breakthroughs have provided the fodder for a story, replete with episodes of apparent mass cellular suicide if not murder, that will undoubtedly serve as a research base for many laboratories over the next several years. Death is known to strike the male and female germlines with roughly equal intensity, but the innate feature of male germ cells being self-renewing while those of the female are not places the death of oocytes in a completely different light. Indeed, the functional life span of the female gonads is defined in most species, including humans, by the size and rate of depletion of the precious endowment of oocytes enclosed within follicles in the ovaries at birth. This continuous loss of oocytes throughout life, referred to by many as the female biological clock, appears to be driven by a genetic program of cell death that is composed of players and pathways conserved from worms to humans. It is on this genetic pathway, and the role of its constituent molecules in regulating female germ cell fate, that this review will focus. Emphasis will be placed on those studies using genetic-null or transgenic models to explore the functional requirement of proteins, such as Bcl-2 family members, Apaf-1, and caspases in vertebrates to CED-9, CED-4, and CED-3 in Caenorhabditis elegans, in oocyte survival and death. Furthermore, hypotheses regarding the potential impact of translating what is now known of the oocyte death pathway into new approaches for the clinical diagnosis and management of female infertility and the menopause will be offered as a means to stimulate further research in this new and exciting field.  (+info)

Familial idiopathic premature ovarian failure: an overrated and underestimated genetic disease? (8/374)

The incidence of familial cases of premature ovarian failure varies from 4 to 31%. Recall bias may explain part of the variance. Thorough evaluation of alleged affected relatives showed a lower incidence than the original family history suggested. In the present study the incidence of familial cases was 12.7%. Pedigree studies on affected families showed a mode of inheritance suggestive of autosomal dominant sex-limited transmission or X-linked inheritance with incomplete penetrance. An adequate family history can distinguish between familial or sporadic premature ovarian failure. The risk of female relatives developing premature ovarian failure may be as high as 100% in familial premature ovarian failure, or as low as 1% in sporadic cases.  (+info)

Primary Ovarian Insufficiency (POI), also known as Premature Ovarian Failure, is a condition characterized by the cessation of ovarian function before the age of 40. This results in decreased estrogen production and loss of fertility. It is often associated with menstrual irregularities or amenorrhea (absence of menstruation). The exact cause can vary, including genetic factors, autoimmune diseases, toxins, and iatrogenic causes such as chemotherapy or radiation therapy.

Gonadal dysgenesis, 46,XX is a medical condition where an individual with a 46,XX karyotype has underdeveloped or absent gonads (ovaries). Normally, individuals with a 46,XX karyotype have ovaries that produce female sex hormones and develop into reproductive organs. However, in cases of gonadal dysgenesis, the gonads do not develop properly and may appear as streak gonads, which lack germ cells and are incapable of producing sex hormones or gametes (eggs).

Individuals with 46,XX gonadal dysgenesis often have female external genitalia but may have primary amenorrhea (absence of menstruation) due to the underdeveloped or absent ovaries. They may also have other features such as short stature, webbed neck, and intellectual disability, depending on the underlying cause of the condition.

The underlying causes of 46,XX gonadal dysgenesis can vary, including genetic mutations, chromosomal abnormalities, or exposure to environmental factors during fetal development. Some individuals with this condition may have an increased risk of developing gonadal tumors, so regular monitoring and follow-up care are essential.

Premature menopause, also known as premature ovarian insufficiency, is a medical condition characterized by the cessation of ovarian function before the age of 40. This results in the absence of menstrual periods and decreased levels of estrogen and progesterone, which can have significant impacts on a woman's health and fertility.

The symptoms of premature menopause are similar to those experienced during natural menopause and may include hot flashes, night sweats, mood changes, vaginal dryness, and decreased libido. However, because of the early age of onset, women with premature menopause have an increased risk of developing certain health conditions such as osteoporosis, cardiovascular disease, and cognitive decline.

The causes of premature menopause are varied and can include genetic factors, autoimmune disorders, surgical removal of the ovaries, chemotherapy or radiation therapy, and exposure to environmental toxins. In some cases, the cause may be unknown. Treatment for premature menopause typically involves hormone replacement therapy (HRT) to alleviate symptoms and reduce the risk of long-term health complications. However, HRT carries its own risks and benefits, and individualized treatment plans should be developed in consultation with a healthcare provider.

Fragile X Mental Retardation Protein (FMRP) is a protein encoded by the FMR1 gene in humans. It is an RNA-binding protein that plays a critical role in regulating the translation and stability of mRNAs, particularly those involved in synaptic plasticity and neuronal development.

Mutations in the FMR1 gene, leading to the absence or reduction of FMRP, have been associated with Fragile X syndrome (FXS), which is the most common inherited form of intellectual disability and the leading genetic cause of autism spectrum disorder (ASD). In FXS, the lack of FMRP leads to an overproduction of proteins at synapses, resulting in altered neuronal connectivity and dysfunctional synaptic plasticity.

FMRP is widely expressed in various tissues, but it has a particularly high expression level in the brain, where it regulates the translation of mRNAs involved in learning, memory, and other cognitive functions. FMRP also interacts with several other proteins involved in neuronal development and function, such as ion channels, receptors, and signaling molecules.

Overall, Fragile X Mental Retardation Protein is a crucial regulator of synaptic plasticity and neuronal development, and its dysfunction has been linked to various neurodevelopmental disorders, including Fragile X syndrome, autism spectrum disorder, and intellectual disability.

Ovarian diseases refer to a range of conditions that affect the function and health of the ovaries, which are the female reproductive organs responsible for producing eggs (oocytes) and female hormones estrogen and progesterone. These diseases can be categorized into functional disorders, infectious and inflammatory diseases, neoplastic diseases, and other conditions that impact ovarian function. Here's a brief overview of some common ovarian diseases:

1. Functional Disorders: These are conditions where the ovaries experience hormonal imbalances or abnormal functioning, leading to issues such as:
* Polycystic Ovary Syndrome (PCOS): A condition characterized by hormonal imbalances that can cause irregular periods, cysts in the ovaries, and symptoms like acne, weight gain, and infertility.
* Functional Cysts: Fluid-filled sacs that develop within the ovary, usually as a result of normal ovulation (follicular or corpus luteum cysts). They're typically harmless and resolve on their own within a few weeks or months.
2. Infectious and Inflammatory Diseases: These conditions are caused by infections or inflammation affecting the ovaries, such as:
* Pelvic Inflammatory Disease (PID): An infection that spreads to the reproductive organs, including the ovaries, fallopian tubes, and uterus. It's often caused by sexually transmitted bacteria like Chlamydia trachomatis or Neisseria gonorrhoeae.
* Tuberculosis (TB): A bacterial infection that can spread to the ovaries and cause inflammation, abscesses, or scarring.
3. Neoplastic Diseases: These are conditions where abnormal growths or tumors develop in the ovaries, which can be benign (non-cancerous) or malignant (cancerous). Examples include:
* Ovarian Cysts: While some cysts are functional and harmless, others can be neoplastic. Benign tumors like fibromas, dermoids, or cystadenomas can grow significantly larger and cause symptoms like pain or bloating. Malignant tumors include epithelial ovarian cancer, germ cell tumors, and sex cord-stromal tumors.
4. Other Conditions: Various other conditions can affect the ovaries, such as:
* Polycystic Ovary Syndrome (PCOS): A hormonal disorder that causes enlarged ovaries with small cysts. It's associated with irregular periods, infertility, and increased risk of diabetes, high blood pressure, and heart disease.
* Premature Ovarian Failure (POF): Also known as primary ovarian insufficiency, it occurs when the ovaries stop functioning before age 40, leading to menstrual irregularities, infertility, and early onset of menopause.

It's essential to consult a healthcare professional if you experience any symptoms related to your reproductive system or suspect an issue with your ovaries. Early detection and treatment can significantly improve the prognosis for many conditions affecting the ovaries.

Fragile X syndrome is a genetic disorder caused by a mutation in the FMR1 gene, which provides instructions for making a protein called fragile X mental retardation protein (FMRP). This protein is essential for normal brain development.

In people with Fragile X syndrome, the FMR1 gene is missing a critical piece of DNA, leading to little or no production of FMRP. As a result, the brain's nerve cells cannot develop and function normally, which can cause a range of developmental problems, including learning disabilities, cognitive impairment, and behavioral and emotional difficulties.

Fragile X syndrome is the most common form of inherited intellectual disability, affecting about 1 in 4,000 males and 1 in 8,000 females. The symptoms and severity can vary widely, but most people with Fragile X syndrome have some degree of intellectual disability, ranging from mild to severe. They may also have physical features associated with the condition, such as a long face, large ears, flexible joints, and flat feet.

There is no cure for Fragile X syndrome, but early intervention and treatment can help improve outcomes. Treatment typically involves a combination of educational support, behavioral therapy, speech and language therapy, physical therapy, and medication to manage symptoms such as anxiety, hyperactivity, and aggression.

Trinucleotide Repeat Expansion is a genetic mutation where a sequence of three DNA nucleotides is repeated more frequently than what is typically found in the general population. In this type of mutation, the number of repeats can expand or increase from one generation to the next, leading to an increased risk of developing certain genetic disorders.

These disorders are often neurological and include conditions such as Huntington's disease, myotonic dystrophy, fragile X syndrome, and Friedreich's ataxia. The severity of these diseases can be related to the number of repeats present in the affected gene, with a higher number of repeats leading to more severe symptoms or an earlier age of onset.

It is important to note that not all trinucleotide repeat expansions will result in disease, and some people may carry these mutations without ever developing any symptoms. However, if the number of repeats crosses a certain threshold, it can lead to genetic instability and an increased risk of disease development.

An ovary is a part of the female reproductive system in which ova or eggs are produced through the process of oogenesis. They are a pair of solid, almond-shaped structures located one on each side of the uterus within the pelvic cavity. Each ovary measures about 3 to 5 centimeters in length and weighs around 14 grams.

The ovaries have two main functions: endocrine (hormonal) function and reproductive function. They produce and release eggs (ovulation) responsible for potential fertilization and development of an embryo/fetus during pregnancy. Additionally, they are essential in the production of female sex hormones, primarily estrogen and progesterone, which regulate menstrual cycles, sexual development, and reproduction.

During each menstrual cycle, a mature egg is released from one of the ovaries into the fallopian tube, where it may be fertilized by sperm. If not fertilized, the egg, along with the uterine lining, will be shed, leading to menstruation.

An ovarian follicle is a fluid-filled sac in the ovary that contains an immature egg or ovum (oocyte). It's a part of the female reproductive system and plays a crucial role in the process of ovulation.

Ovarian follicles start developing in the ovaries during fetal development, but only a small number of them will mature and release an egg during a woman's reproductive years. The maturation process is stimulated by hormones like follicle-stimulating hormone (FSH) and luteinizing hormone (LH).

There are different types of ovarian follicles, including primordial, primary, secondary, and tertiary or Graafian follicles. The Graafian follicle is the mature follicle that ruptures during ovulation to release the egg into the fallopian tube, where it may be fertilized by sperm.

It's important to note that abnormal growth or development of ovarian follicles can lead to conditions like polycystic ovary syndrome (PCOS) and ovarian cancer.

Galactosemia is a rare metabolic disorder that affects the body's ability to metabolize the simple sugar galactose, which is found in milk and other dairy products. It is caused by deficiency or complete absence of one of the three enzymes needed to convert galactose into glucose:

1. Galactokinase (GALK) deficiency - also known as Galactokinase galactosemia, is a milder form of the disorder.
2. Galactose-1-phosphate uridylyltransferase (GALT) deficiency - the most common and severe form of classic galactosemia.
3. Galactose epimerase (GALE) deficiency - also known as Epimerase deficiency galactosemia, is a rare and milder form of the disorder.

The most severe form of the disorder, GALT deficiency, can lead to serious health problems such as cataracts, liver damage, mental retardation, and sepsis if left untreated. Treatment typically involves removing galactose from the diet, which requires avoiding all milk and dairy products. Early diagnosis and treatment are crucial for improving outcomes in individuals with galactosemia.

Amenorrhea is a medical condition characterized by the absence or cessation of menstrual periods in women of reproductive age. It can be categorized as primary amenorrhea, when a woman who has not yet had her first period at the expected age (usually around 16 years old), or secondary amenorrhea, when a woman who has previously had regular periods stops getting them for six months or more.

There are various causes of amenorrhea, including hormonal imbalances, pregnancy, breastfeeding, menopause, extreme weight loss or gain, eating disorders, intense exercise, stress, chronic illness, tumors, and certain medications or medical treatments. In some cases, amenorrhea may indicate an underlying medical condition that requires further evaluation and treatment.

Amenorrhea can have significant impacts on a woman's health and quality of life, including infertility, bone loss, and emotional distress. Therefore, it is essential to consult with a healthcare provider if you experience amenorrhea or missed periods to determine the underlying cause and develop an appropriate treatment plan.

Gonadal dysgenesis, 46,XY is a medical condition where the gonads (testes) fail to develop or function properly in an individual with a 46,XY karyotype (a normal male chromosomal composition). This means that the person has one X and one Y chromosome, but their gonads do not develop into fully functional testes. As a result, the person may have ambiguous genitalia or female external genitalia, and they will typically not produce enough or any male hormones. The condition can also be associated with an increased risk of developing germ cell tumors in the dysgenetic gonads.

The severity of gonadal dysgenesis, 46,XY can vary widely, and it may be accompanied by other developmental abnormalities or syndromes. Treatment typically involves surgical removal of the dysgenetic gonads to reduce the risk of tumor development, as well as hormone replacement therapy to support normal sexual development and reproductive function. The underlying cause of gonadal dysgenesis, 46,XY is not always known, but it can be associated with genetic mutations or chromosomal abnormalities.

Turner Syndrome is a genetic disorder that affects females, caused by complete or partial absence of one X chromosome. The typical karyotype is 45,X0 instead of the normal 46,XX in women. This condition leads to distinctive physical features and medical issues in growth, development, and fertility. Characteristic features include short stature, webbed neck, low-set ears, and swelling of the hands and feet. Other potential symptoms can include heart defects, hearing and vision problems, skeletal abnormalities, kidney issues, and learning disabilities. Not all individuals with Turner Syndrome will have every symptom, but most will require medical interventions and monitoring throughout their lives to address various health concerns associated with the condition.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Cross-sectional anatomy refers to the study and visualization of the internal structures of the body as if they were cut along a plane, creating a two-dimensional image. This method allows for a detailed examination of the relationships between various organs, tissues, and structures that may not be as easily appreciated through traditional observation or examination.

In cross-sectional anatomy, different imaging techniques such as computed tomography (CT) scans, magnetic resonance imaging (MRI), and ultrasound are used to create detailed images of the body's internal structures at various depths and planes. These images can help medical professionals diagnose conditions, plan treatments, and assess the effectiveness of interventions.

Cross-sectional anatomy is an important tool in modern medicine, as it provides a more comprehensive understanding of the human body than traditional gross anatomy alone. By allowing for a detailed examination of the internal structures of the body, cross-sectional anatomy can help medical professionals make more informed decisions about patient care.

Adrenal insufficiency is a condition in which the adrenal glands do not produce adequate amounts of certain hormones, primarily cortisol and aldosterone. Cortisol helps regulate metabolism, respond to stress, and suppress inflammation, while aldosterone helps regulate sodium and potassium levels in the body to maintain blood pressure.

Primary adrenal insufficiency, also known as Addison's disease, occurs when there is damage to the adrenal glands themselves, often due to autoimmune disorders, infections, or certain medications. Secondary adrenal insufficiency occurs when the pituitary gland fails to produce enough adrenocorticotropic hormone (ACTH), which stimulates the adrenal glands to produce cortisol.

Symptoms of adrenal insufficiency may include fatigue, weakness, weight loss, decreased appetite, nausea, vomiting, diarrhea, abdominal pain, low blood pressure, dizziness, and darkening of the skin. Treatment typically involves replacing the missing hormones with medications taken orally or by injection.

Steroidogenic Factor 1 (SF-1 or NR5A1) is a nuclear receptor protein that functions as a transcription factor, playing a crucial role in the development and regulation of the endocrine system. It is involved in the differentiation and maintenance of steroidogenic tissues such as the adrenal glands, gonads (ovaries and testes), and the hypothalamus and pituitary glands in the brain.

SF-1 regulates the expression of genes that are essential for steroid hormone biosynthesis, including enzymes involved in the production of cortisol, aldosterone, and sex steroids (androgens, estrogens). Mutations in the SF-1 gene can lead to various disorders related to sexual development, adrenal function, and fertility.

In summary, Steroidogenic Factor 1 is a critical transcription factor that regulates the development and function of steroidogenic tissues and the biosynthesis of steroid hormones.

Female infertility is a condition characterized by the inability to conceive after 12 months or more of regular, unprotected sexual intercourse or the inability to carry a pregnancy to a live birth. The causes of female infertility can be multifactorial and may include issues with ovulation, damage to the fallopian tubes or uterus, endometriosis, hormonal imbalances, age-related factors, and other medical conditions.

Some common causes of female infertility include:

1. Ovulation disorders: Conditions such as polycystic ovary syndrome (PCOS), thyroid disorders, premature ovarian failure, and hyperprolactinemia can affect ovulation and lead to infertility.
2. Damage to the fallopian tubes: Pelvic inflammatory disease, endometriosis, or previous surgeries can cause scarring and blockages in the fallopian tubes, preventing the egg and sperm from meeting.
3. Uterine abnormalities: Structural issues with the uterus, such as fibroids, polyps, or congenital defects, can interfere with implantation and pregnancy.
4. Age-related factors: As women age, their fertility declines due to a decrease in the number and quality of eggs.
5. Other medical conditions: Certain medical conditions, such as diabetes, celiac disease, and autoimmune disorders, can contribute to infertility.

In some cases, female infertility can be treated with medications, surgery, or assisted reproductive technologies (ART) like in vitro fertilization (IVF). A thorough evaluation by a healthcare professional is necessary to determine the underlying cause and develop an appropriate treatment plan.

A chromosome is a thread-like structure that contains genetic material, made up of DNA and proteins, in the nucleus of a cell. In humans, there are 23 pairs of chromosomes, for a total of 46 chromosomes, in each cell of the body, with the exception of the sperm and egg cells which contain only 23 chromosomes.

The X chromosome is one of the two sex-determining chromosomes in humans. Females typically have two X chromosomes (XX), while males have one X and one Y chromosome (XY). The X chromosome contains hundreds of genes that are responsible for various functions in the body, including some related to sexual development and reproduction.

Humans inherit one X chromosome from their mother and either an X or a Y chromosome from their father. In females, one of the two X chromosomes is randomly inactivated during embryonic development, resulting in each cell having only one active X chromosome. This process, known as X-inactivation, helps to ensure that females have roughly equal levels of gene expression from the X chromosome, despite having two copies.

Abnormalities in the number or structure of the X chromosome can lead to various genetic disorders, such as Turner syndrome (X0), Klinefelter syndrome (XXY), and fragile X syndrome (an X-linked disorder caused by a mutation in the FMR1 gene).

... (POI) (also called premature ovarian insufficiency, premature menopause, and premature ovarian ... They used the term "primary ovarian insufficiency" to distinguished POI from ovarian insufficiency secondary to a primary ... Etiologies of Primary Ovarian Insufficiency". In Santoro NF, Cooper AR (eds.). Primary Ovarian Insufficiency A Clinical Guide ... "Chapter 3 Signs and Symptoms of Primary Ovarian Insufficiency". In Santoro NF, Cooper AR (eds.). Primary Ovarian Insufficiency ...
... (FXPOI) is the most common genetic cause of premature ovarian failure in ... Primary ovarian insufficiency requires that a diagnosis be made prior to the age of 40, since it is considered premature ... Primary ovarian insufficiency". The New England Journal of Medicine. 360 (6): 606-614. doi:10.1056/NEJMcp0808697. PMC 2762081. ... Sullivan SD, Welt C, Sherman S (July 2011). "FMR1 and the continuum of primary ovarian insufficiency". Seminars in Reproductive ...
Primary ovarian insufficiency, also known as premature ovarian failure, can develop in women before the age of forty as a ... Primary ovarian insufficiency (premature menopause) due to varying causes, such as radiation therapy, chemotherapy, or a ... Primary ovarian insufficiency". The New England Journal of Medicine. 360 (6): 606-14. doi:10.1056/nejmcp0808697. PMC 2762081. ... Hypoestrogenism is most commonly found in women who are postmenopausal, have primary ovarian insufficiency (POI), or are ...
Primary ovarian insufficiency (POI) affects 1% of females and is defined as the loss of ovarian function before the age of 40. ... If LH and FSH are elevated, menopause or primary ovarian insufficiency should be considered. Normal or low levels of FSH and LH ... Elevated levels of FSH and LH suggest primary ovarian insufficiency, typically due to Turner syndrome. Normal levels of FSH and ... primary ovarian insufficiency, and functional hypothalamic amenorrhea. Turner syndrome, monosomy 45XO, is a genetic disorder ...
2016). Primary Ovarian Insufficiency. Cham: Springer International Publishing. doi:10.1007/978-3-319-22491-6. ISBN 978-3-319- ... Premature ovarian insufficiency (POI) is impairment of the ovaries and how they work before the age of 40 years. It can be ... OMAS are usually diagnosed in women attempting in vitro fertilisation (IVF), and include premature ovarian insufficiency (POI ... Oocyte abnormalities can occur due to several factors, including premature ovarian insufficiency (POI), other maturation ...
Recent research suggests that premature ovarian aging and premature ovarian failure (aka primary ovarian insufficiency) may ... "Facts about Primary Ovarian Insufficiency (POI)". The National Fragile X Foundation. Archived from the original on 2008-11-06. ... Approximately 20-28% of women with an FMR1 premutation (55-200 CGG repeats) experience fragile x primary ovarian insufficiency ... While the primary cause of the end to menstrual cycles is the exhaustion of ovarian follicles, there is some evidence that a ...
Wang, Jian; Zhang, Wenxiang; Jiang, Hong; Wu, Bai-Lin (2014). "Mutations inHFM1in Recessive Primary Ovarian Insufficiency". New ... Veitia, Reiner A. (2020). "Primary ovarian insufficiency, meiosis and DNA repair". Biomedical Journal. 43 (2): 115-123. doi: ... A major cause of female infertility is premature ovarian insufficiency. This insufficiency is a heterogeneous disease that ... Diminished ovarian reserve, also see Poor Ovarian Reserve Premature menopause Menopause Luteal dysfunction Gonadal dysgenesis ( ...
Primary Ovarian Insufficiency is defined as when ovarian function is stopped prematurely (before the age of 40). This is also ... Wesevich V, Kellen AN, Pal L (2020-09-07). "Recent advances in understanding primary ovarian insufficiency". F1000Research. 9: ... or Primary Ovarian Insufficiency (POI). Chemotherapy and radiation treatments for cancer and autoimmunity conditions like Lupus ... in female cancer patients and in other pathologies where the patient is at increased risk of primary ovarian insufficiency. ...
Wang J, Zhang W, Jiang H, Wu BL (March 2014). "Mutations in HFM1 in recessive primary ovarian insufficiency". The New England ... Biallelic mutations in HFM1 cause recessive primary ovarian insufficiency. GRCh38: Ensembl release 89: ENSG00000162669 - ...
"STAG3 truncating variant as the cause of primary ovarian insufficiency". European Journal of Human Genetics. 24 (1): 135-138. ... A homozygous 1-bp deletion inducing a frameshift mutation in STAG3 causes premature ovarian failure. Loss of function mutations ... Once anaphase is achieved, STAG3 is not observed anywhere in the chromosome architecture, further emphasizing its primary ... "Common alleles in candidate susceptibility genes associated with risk and development of epithelial ovarian cancer". ...
"MCM8 and MCM9 Nucleotide Variants in Women With Primary Ovarian Insufficiency". J. Clin. Endocrinol. Metab. 102 (2): 576-582. ... Inherited mutations in MCM8 and MCM9 can cause a chromosomal instability syndrome characterized by ovarian failure. The ... "MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability". Am. J. Hum. Genet. 95 (6): 754 ...
Primary ovarian insufficiency can be caused by mutations in genes involved in essential steps in chromosome synapsis and ... Mutation in the autosomal gene SYCE1 that encodes synaptonemal complex element 1 protein causes a primary ovarian insufficiency ... "Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency". J. Clin. Endocrinol ... "Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency". J. Clin. Endocrinol ...
However, GT198 may not be a common cause of primary ovarian insufficiency. In breast and ovarian cancer families, pathogenic ... GT198 germline deletion and mutation have been linked to primary ovarian insufficiency, when female members were affected in ... "Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation". The Journal of Clinical ... "No Mutations in the PSMC3IP Gene Identified in a Swedish Cohort of Women with Primary Ovarian Insufficiency". Sexual ...
Fragile X-associated primary ovarian insufficiency (FXPOI) is one of three Fragile X-associated Disorders (FXD) caused by ... September 2021). "Refining the risk for fragile X-associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size". ... 2014). "Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI)". Journal ... of women who are carriers for the fragile X premutation are affected by fragile X-related primary ovarian insufficiency (FXPOI ...
Subsequent studies revealed that NR5A1 heterozygous mutations cause primary ovarian insufficiency (MIM 612964). Recently, NR5A1 ... "Mutations in NR5A1 Associated with Ovarian Insufficiency". New England Journal of Medicine. 360 (12): 1200-1210. doi:10.1056/ ... but no adrenal insufficiency. Since then, studies have confirmed that mutations in NR5A1 in patients with 46, XY karyotype ... A large percentage of human male infertility is estimated to be caused by mutations in genes involved in primary or secondary ...
Other type of tests could be done to rule out other issues that can be a part of primary ovarian insufficiency (POI). There is ... This disease is caused by primary ovarian insufficiency (POI), where reproduction and hormonal function of the ovaries stops ... Autoimmune oophoritis accounts for almost 4% of women who present with primary ovarian insufficiency (POI). However, due to the ... In 2015 a research was done on the role of autoimmunity in premature ovarian failure. In 2014 there was an ovarian autoimmune ...
Doses and principles of therapy are similar to those for women with primary ovarian insufficiency. Boys and men - In boys, ... primary amenorrhea in girls, lack of virilization in boys) and failure to establish a pubertal growth spurt.[citation needed] ... as it is critical to understanding the clinical heterogeneity of GnRH insufficiency and its comparison to other conditions ... rather than the high concentrations expected with primary gonadal failure. Otherwise normal anterior pituitary function. Normal ...
... identification of variants in a cohort of women with primary ovarian insufficiency". Journal of Ovarian Research. 10 (1): 51. ... De Vos M, Devroey P, Fauser BC (September 2010). "Primary ovarian insufficiency". Lancet. 376 (9744): 911-21. doi:10.1016/S0140 ... A mutation in the NOBOX gene is associated with premature ovarian failure (POF), also known as premature ovarian insufficiency ... "New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L expression". The ...
Oophoritis can be caused by an infection or by an autoimmune disease called primary ovarian insufficiency. A sexually ... further research stated that low fruit and vegetable intake as well as Vitamin D insufficiency and food contaminants have been ...
"Fragile X-Associated Diminished Ovarian Reserve and Primary Ovarian Insufficiency from Molecular Mechanisms to Clinical ... Katsigianni M, Karageorgiou V, Lambrinoudaki I, Siristatidis C (December 2019). "Maternal polycystic ovarian syndrome in autism ...
97-103 Women with Turner syndrome are at extremely high risk for primary ovarian insufficiency (POI) and infertility. Although ... Turner syndrome is characterized by primary amenorrhoea, premature ovarian failure (hypergonadotropic hypogonadism), streak ... Primary biliary cholangitis is more common in 45,X0 than 46,XX women. An unclear association exists between estrogen ... 6% of women with Turner syndrome have regular menstrual cycles; the rest experience primary or secondary amenorrhea or other ...
BMP-15 defects have been implicated in female sterility, Polycystic Ovary Syndrome (PCOS), primary ovarian insufficiency (POI) ... Functions of BMP-15 include Promotion of growth and maturation of ovarian follicles, starting from the primary gonadotrophin- ... In women, a mutation in BMP-15 is linked to hypergonadotropic ovarian failure due to ovarian dysgenesis. In this case, the ... The protein is linked to familial ovarian dysgenesis which results in hypergonadotropic ovarian failure. The importance of BMP- ...
In April 2023, Leadley went viral on TikTok when she revealed she had been diagnosed with primary ovarian insufficiency (POI). ...
A novel approach to primary ovarian insufficiency and diminished ovarian reserve". Human Reproduction Open. 2020 (4): hoaa046. ... Premature ovarian failure (POF), or premature ovarian insufficiency (POI), is a female reproductive disorder characterised by ... see Poor Ovarian Reserve) or Premature Ovarian Insufficiency (POI). Drug free IVA is more beneficial in patients with DOR or ... after drug-free in vitro activation of follicles and fresh tissue autotransplantation in primary ovarian insufficiency patient ...
... primary ovarian insufficiency (POI), and hyperprolactinemia. Women with PCOS make up the greatest portion of anovulatory women ... primary ovarian insufficiency (POI), and hyperprolactinemia. Importantly, semen analysis should be carried out of the XY ... A rare form of HA that presents as primary amenorrhea can be due to a congenital deficiency of GnRH knows as idiopathic ... This is called ovarian dystrophy. Hyperprolactinemia anovulation makes up 5 to 10 percent of women with anovulation. ...
... although women with a BRCA mutation may be more likely to have primary ovarian insufficiency. BRCA mutation carriers may be ... "Association of BRCA1 mutations with occult primary ovarian insufficiency: a possible explanation for the link between ... The blood test has relatively poor sensitivity and specificity for ovarian cancer.: 175-207 In both breast and ovarian ... and a risk of ovarian cancer that is about ten to thirty times normal. The risk of breast and ovarian cancer is higher for ...
Clinically, women with sSMC-associated infertility have a history of amenorrhea and/or primary ovarian insufficiency, i.e. ... sSMC i (5)(p10) is also detected in rare cases of ovarian cancer and very rare cases of breast cancers. The mechanism(s) by ... Panani AD, Roussos C (April 2006). "Non-random structural chromosomal changes in ovarian cancer: i(5p) a novel recurrent ... in most cases ovarian failure and infertility; and in less common cases bone anomalies, lymphoedema, deafness, and/or ...
... also called occult primary ovarian insufficiency, a condition in which women prematurely deplete their ovarian function. A very ... "Intermediate and premutation FMR1 alleles in women with occult primary ovarian insufficiency". Fertility and Sterility. 92 (2 ... Gleicher N, Barad DH (August 2010). "The FMR1 gene as regulator of ovarian recruitment and ovarian reserve". Obstetrical & ... Mutations of this gene can lead to fragile X syndrome, intellectual disability, premature ovarian failure, autism, Parkinson's ...
... in telecommunications Primary ovarian insufficiency (POI), partial or total of function of the ovaries All pages with titles ...
... also called Primary ovarian insufficiency Project Management Organization Framework (Project portfolio management) Post- ... PMOF may refer to: Presidential Medal of Freedom Premature Ovarian Failure (gynecology), ...
Primary ovarian insufficiency (POI) (also called premature ovarian insufficiency, premature menopause, and premature ovarian ... They used the term "primary ovarian insufficiency" to distinguished POI from ovarian insufficiency secondary to a primary ... Etiologies of Primary Ovarian Insufficiency". In Santoro NF, Cooper AR (eds.). Primary Ovarian Insufficiency A Clinical Guide ... "Chapter 3 Signs and Symptoms of Primary Ovarian Insufficiency". In Santoro NF, Cooper AR (eds.). Primary Ovarian Insufficiency ...
Women with primary ovarian insufficiency may experience some intermittent ovarian function, experts report. ... Known previously as primary ovarian failure, the syndrome of primary ovarian insufficiency (POI) no longer refers to a failure ... "Women with primary ovarian insufficiency should be advised on how to reduce cardiovascular risk factors by not smoking, taking ... Primary ovarian insufficiency is not your mothers early menopause, Laurie McKenzie, MD, told attendees at the 2021 annual ...
Fragile X-associated primary ovarian insufficiency, or FXPOI, is a condition in which the ovaries are not functioning at full ... Fragile X-Associated Primary Ovarian Insufficiency , FXPOI. Fragile X-associated primary ovarian insufficiency, one of three ... Fragile X-Associated Primary Ovarian Insufficiency. Home/Understanding Fragile X/Fragile X-Associated Primary Ovarian ... Fragile X-Associated Primary Ovarian InsufficiencyDan Whiting2022-09-07T19:44:11-04:00 ...
A homozygous p.Glu120Lys mutation in ,i,NANOS3,/i, was identified in two sisters with primary amenorrhea. The substituted amino ... presenting with primary or secondary amenorrhea, and in ethnically-matched control women. ... apoptosis during embryonic cell migration and highlights the importance of NANOS proteins in human ovarian biology. ... the molecular diagnosis of primary ovarian insufficiency (POI) is seldom obtained. The RNA-binding protein NANOS3 poses as an ...
... Mar 9, 2021. Jill Murphy, Associate Editor ... A new study comparing the bone health outcomes of women with primary ovarian insufficiency (POI) and early menopause versus ... Primary ovarian insufficiency associated with increased risk of osteoporosis. EurekAlert! https://www.eurekalert.org/pub_ ... Previous studies have suggested an association between osteoporosis and POI, or loss of ovarian function before 40 years of age ...
Topic : Primary Ovarian Insufficiency Health talk: Menopause can cause misery in women. Radiation therapy only affects ovarian ...
... causes female infertility by abolishing normal ovarian function. Although its genetic etiology has been extensively ... replication fork progression of patient-derived lymphoblastoid cell lines and pluripotent reprogramming efficiency of primary ... Wang J, Zhang W, Jiang H, Wu BL, Primary Ovarian Insufficiency C. Mutations in HFM1 in recessive primary ovarian insufficiency ... Primary ovarian insufficiency (POI) causes female infertility by abolishing normal ovarian function. Although its genetic ...
Women who have a premutation in the FMR1 gene are at risk of having premature ovarian insufficiency, a condition called FXPOI. ... Women who have a premutation in the FMR1 gene are at risk of having premature ovarian insufficiency, a condition called FXPOI. ... 2008) Anti-Mullerian hormone indicates early ovarian decline in fragile X mental retardation (FMR1) premutation carriers: A ...
Context: Primary Ovarian insufficiency (POI) affects 1% of women under 40 years and leads most often to definitive infertility ... Data from: A novel phenotype combining primary ovarian insufficiency growth retardation and pilomatricomas with MCM8 mutation. ... 2020). Data from: A novel phenotype combining primary ovarian insufficiency growth retardation and pilomatricomas with MCM8 ... multiple pilomatricomas in childhood and primary amenorrhea. She was treated with growth hormone (GH) from 14 to 18 years. ...
In this case, the clinical situation is termed primary ovarian insufficiency. Ovarian insufficiency also can develop due to ... Ovarian ultrasonography can be useful in the workup of patients with primary ovarian insufficiency, as it will identify those ... Overt primary ovarian insufficiency is the clinical condition that has previously been referred to as premature ovarian failure ... Clinical Situations of Primary Ovarian Insufficiency and Premature Ovarian Failure (Open Table in a new window) ...
Types of Ovarian Insufficiency. Ovarian insufficiency can be categorized as primary or secondary. In primary ovarian ... Primary ovarian insufficiency can in turn be divided into different types.. Occult Primary Ovarian Insufficiency. *Normal ... In secondary ovarian insufficiency, treatment is directed at the underlying cause. With primary ovarian insufficiency, ... With a deeper understanding of ovarian insufficiency, premature ovarian failure is one type of ovarian insufficiency. However, ...
POI has been called premature ovarian failure and premature menopause. ... Primary ovarian insufficiency, or POI, is when the ovaries stop working normally before the age of 40. With POI, the ovary does ...
Fragile X-Associated Primary Ovarian Insufficiency (FXPOI). Fragile X-Associated Primary Ovarian Insufficiency (FXPOI) is a ... Women who have a premutation in their FMR1 gene are at higher risk for primary ovarian insufficiency and are at higher risk for ... Women with a condition called primary ovarian insufficiency stop having menstrual cycles and have symptoms of menopause before ...
Overt primary ovarian insufficiency is the clinical condition that has previously been referred to as premature ovarian failure ... Clinical Situations of Primary Ovarian Insufficiency and Premature Ovarian Failure (Open Table in a new window) ... Primary ovarian insufficiency or premature ovarian failure can be subdivided into 2 major pathogenetic categories- induced ( ... Primary ovarian insufficiency (POI) (premature ovarian failure, premature menopause, or early menopause) is a condition ...
... the recognized term for Premature Ovarian Failure, is when a womans ovaries stop functioning before age 40. ... Primary Ovarian Insufficiency (POI) and Premature Ovarian Failure (POF) refer to the same condition. However, Primary Ovarian ... According to the American Pregnancy Association, Primary Ovarian Insufficiency (POI) impacts one in every 1,000 women between ... Wait-this sounds similar to premature ovarian failure (POF) and premature menopause. ...
Primary Ovarian Insufficiency - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the MSD Manuals - ... Etiology of Primary Ovarian Insufficiency Primary ovarian insufficiency has various causes (see table Common Causes of Primary ... Symptoms and Signs of Primary Ovarian Insufficiency In women with occult or biochemical primary ovarian insufficiency (see ... Primary Ovarian Insufficiency (Premature Menopause; Premature Ovarian Failure; Premature Ovarian Insufficiency; ...
This circumstance is also named premature ovarian loss and frequently governs infertility. ... Primary Ovarian Insufficiency: Symptoms, Causes, Risk Factors, Complications & Treatment. Reference and Education Primary ... when the ovary of a female stops functioning as it should before 40 then it leads the female to primary ovarian insufficiency. ... Surgeries comprising the ovaries improve the danger of major ovarian deficiency.. Complications. Difficulties of basic ovarian ...
Learn about primary ovarian insufficiency, its symptoms, causes, impact on fertility, and whether any treatment is available. ... Causes of Primary Ovarian Insufficiency. Genetic Causes. In about 28% of cases of primary ovarian insufficiency, the cause is ... What is Primary Ovarian Insufficiency?. This condition is also known as premature ovarian failure. In this case, the ovaries ... Does Primary Ovarian Insufficiency Affect Fertility?. This depends on the severity of the condition and the extent of ovarian ...
Fragile X-associated primary ovarian insufficiency. A trinucleotide repeat expansion in the FMR1 gene increases a womans risk ... of developing a condition called fragile X-associated primary ovarian insufficiency (FXPOI). In this condition, the CGG ... FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. Hum Genet. ...
Primary Ovarian Insufficiency: A Clinical Guide to Early Menopause will therefore be an excellent practical yet personal ... Presenting the most current and relevant information on the diagnosis and management of primary ovarian insufficiency, also ... Serous adenocarcinoma arising from ovarian endometriosis after menopause. January 2010 · Korean Journal of Obstetrics and ... known as premature ovarian failure (POI/POF), this book presents two equally important voices. The first is the scientific, ...
Ovarian failure that occurs before the age of 40 is considered premature ovarian failure. ... Ovarian failure that occurs before the age of 40 is considered premature ovarian failure. ... Premature ovarian failure is reduced function of the ovaries (including decreased production of hormones). ... Premature ovarian failure is reduced function of the ovaries (including decreased production of hormones). ...
primary ovarian insufficiency. *an underactive pituitary gland. *polycystic ovary syndrome (PCOS). *tumors of the ovaries or ... We link primary sources - including studies, scientific references, and statistics - within each article and also list them in ...
Ovarian Diseases / physiopathology* * Ovary / physiopathology * Primary Ovarian Insufficiency / physiopathology* Substances * ... Primary ovarian failure can be the result of gonadal dysgenesis or premature menopause. Secondary ovarian dysfunction may be ... The common pathogenic "turntable" of these clinical signs is an impaired ovarian function, for which primary (i.e. intraovarian ... Effect of central and ovarian endocrine disturbances on the female genital tract--clinical signs and symptoms Verh Dtsch Ges ...
Primary ovarian insufficiency. *Donor egg treatment. *Donor sperm treatment. *Complex fertility treatment ...
Diagnosing and managing primary ovarian insufficiency. Primary ovarian insufficiency is the loss of ovarian function before age ...
A patient with primary ovarian insufficiency who had only 13 follicle development cycles during 13 years, but had 2 live births ... A patient with primary ovarian insufficiency who had only 13 follicle development cycles during 13 years, but had 2 live births ... A patient with primary ovarian insufficiency who had only 13 follicle development cycles during 13 years, but had 2 live births ... A patient with primary ovarian insufficiency who had only 13 follicle development cycles during 13 years, but had 2 live births ...
Premature ovarian failure (or primary ovarian insufficiency). When your ovaries prematurely stop releasing eggs, for unknown ... When this happens before youre 40, its called premature ovarian failure. Unlike premature menopause, premature ovarian ...
This was previously referred to as premature ovarian failure ... POI may also be referred to as primary ovarian insufficiency, ... Spontaneous Premature Ovarian Insufficiency is menopause occurring spontaneously in women younger than 40 years of age and ... 2. Golezar S, Ramezani Tehrani F, Khazaei S, Ebadi A, Keshavarz Z. The global prevalence of primary ovarian insufficiency and ... Loss of ovarian function occurring in women younger than 40 years of age is called premature ovarian insufficiency (POI)1. ...
Primary ovarian insufficiency., N. Engl. J. Med. 360 (2009) 606-614. *54. R.R. Newbold, W.N. Jefferson, E. Padilla-Banks, ... 5.4 Primary ovarian failure (POF). About 1% of the female population under 40 years of age suffers from POF, leading to other ... Inhibit early stage of ovarian follicle. [55]. MTX. Rats. Increase the expression of AMH in the pre-antral and early-antral ... 5.6 Polycystic ovarian syndrome (PCOS). This disease is a more prevalent endocrine disorder in women, characterized by ...
Primary ovarian insufficiency. *Hyperprolactinemia. *The use of hormonal therapies. *Cancer treatments that affect the ovaries ...

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