A disorder of sexual development transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (RECEPTORS, ANDROGEN) gene. Severity of the defect in receptor quantity or quality correlates with their phenotypes. In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in Reifenstein Syndrome, to that of a normal male with INFERTILITY.
Proteins, generally found in the CYTOPLASM, that specifically bind ANDROGENS and mediate their cellular actions. The complex of the androgen and receptor migrates to the CELL NUCLEUS where it induces transcription of specific segments of DNA.
A number of syndromes with defective gonadal developments such as streak GONADS and dysgenetic testes or ovaries. The spectrum of gonadal and sexual abnormalities is reflected in their varied sex chromosome (SEX CHROMOSOMES) constitution as shown by the karyotypes of 45,X monosomy (TURNER SYNDROME); 46,XX (GONADAL DYSGENESIS, 46XX); 46,XY (GONADAL DYSGENESIS, 46,XY); and sex chromosome MOSAICISM; (GONADAL DYSGENESIS, MIXED). Their phenotypes range from female, through ambiguous, to male. This concept includes gonadal agenesis.
Compounds that interact with ANDROGEN RECEPTORS in target tissues to bring about the effects similar to those of TESTOSTERONE. Depending on the target tissues, androgenic effects can be on SEX DIFFERENTIATION; male reproductive organs, SPERMATOGENESIS; secondary male SEX CHARACTERISTICS; LIBIDO; development of muscle mass, strength, and power.
A birth defect due to malformation of the URETHRA in which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of the PENIS or on the PERINEUM. In the female, the malformed urethral opening is in the VAGINA.
Congenital conditions in individuals with a male karyotype, in which the development of the gonadal or anatomical sex is atypical.
Organs or parts of organs surgically formed from nearby tissue to function as substitutes for diseased or surgically removed tissue.
A potent androgenic steroid and major product secreted by the LEYDIG CELLS of the TESTIS. Its production is stimulated by LUTEINIZING HORMONE from the PITUITARY GLAND. In turn, testosterone exerts feedback control of the pituitary LH and FSH secretion. Depending on the tissues, testosterone can be further converted to DIHYDROTESTOSTERONE or ESTRADIOL.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Development of female secondary SEX CHARACTERISTICS in the MALE. It is due to the effects of estrogenic metabolites of precursors from endogenous or exogenous sources, such as ADRENAL GLANDS or therapeutic drugs.
A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.
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.
In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of GONADAL HORMONES in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included.
A characteristic symptom complex.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
A syndrome characterized by indifference to PAIN despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and INTELLECTUAL DISABILITY may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)
A potent androgenic metabolite of TESTOSTERONE. It is produced by the action of the enzyme 3-OXO-5-ALPHA-STEROID 4-DEHYDROGENASE.
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.
Steroidal compounds related to TESTOSTERONE, the major mammalian male sex hormone. Testosterone congeners include important testosterone precursors in the biosynthetic pathways, metabolites, derivatives, and synthetic steroids with androgenic activities.
NATIONAL LIBRARY OF MEDICINE service for health professionals and consumers. It links extensive information from the National Institutes of Health and other reviewed sources of information on specific diseases and conditions.
Absence of hair from areas where it is normally present.
A filament-like structure consisting of a shaft which projects to the surface of the SKIN from a root which is softer than the shaft and lodges in the cavity of a HAIR FOLLICLE. It is found on most surfaces of the body.
A tube-like invagination of the EPIDERMIS from which the hair shaft develops and into which SEBACEOUS GLANDS open. The hair follicle is lined by a cellular inner and outer root sheath of epidermal origin and is invested with a fibrous sheath derived from the dermis. (Stedman, 26th ed) Follicles of very long hairs extend into the subcutaneous layer of tissue under the SKIN.
Loss of scalp and body hair involving microscopically inflammatory patchy areas.
A potent direct-acting peripheral vasodilator (VASODILATOR AGENTS) that reduces peripheral resistance and produces a fall in BLOOD PRESSURE. (From Martindale, The Extra Pharmacopoeia, 30th ed, p371)

Assessment of the gonadotrophin-gonadal axis in androgen insensitivity syndrome. (1/139)

OBJECTIVE: To study the value of measuring serum luteinising hormone (LH), follicle stimulating hormone (FSH), testosterone, and dihydrotestosterone (DHT) in androgen insensitivity syndrome (AIS). DESIGN: Retrospective study of patients on a nationwide register of AIS. PATIENTS: Sixty one cases of AIS with androgen receptor (AR) dysfunction (abnormalities of the AR gene and/or abnormal AR binding) were divided into three age groups: infants, < 1 year old; children, 1-13 years old; and postpubertal, > 13 years old. MEASUREMENTS: Age, dose of human chorionic gonadotrophin (hCG) stimulation, pre-hCG and post-hCG serum testosterone values, serum DHT values, and serum LH and FSH values before and after LH releasing hormone (LHRH) stimulation. RESULTS: In 23 of 30 infants testosterone was within age related reference ranges; six were above this range. The median testosterone rise following variable dosage of hCG was 9.5 times the basal value. The increment was not related to the hCG dose, age, or basal concentration of testosterone. The median basal and stimulated testosterone:DHT ratios were 2.5 and 6.1, respectively. The median increment in DHT was 2.2-fold. Seventeen of 18 FSH and 11 of 19 LH measurements were within age related ranges in infants; in seven patients LH values were above the range. LHRH stimulation performed in 39 patients showed an exaggerated LH in all age groups. The FSH response was not exaggerated in children. CONCLUSION: Although a positive hCG test excludes biosynthetic defects of testosterone, an inadequate response does not exclude AIS. Basal LH and testosterone may not be raised during early infancy. An LHRH stimulation test might be useful for evaluating cases of suspected AIS presenting in mid-childhood.  (+info)

Direct androgenic regulation of calcitonin gene-related peptide expression in motoneurons of rats with mosaic androgen insensitivity. (2/139)

The spinal nucleus of the bulbocavernosus (SNB) and its target muscles, bulbocavernosus and levator ani (BC/LA), form a sexually dimorphic neuromuscular circuit whose development and maintenance are androgen-dependent. The mechanisms whereby androgen regulates gene expression in the SNB of adult rats are largely unknown, although a retrograde influence from the BC/LA muscles has been suggested to underlie the suppression of calcitonin gene-related peptide (CGRP) expression observed in SNB motoneurons after systemic androgen treatment. A mosaic paradigm was used to determine the site of action of androgen in the regulation of CGRP expression in SNB motoneurons. As a consequence of random X chromosome inactivation, androgenized female rats heterozygous for the tfm androgen receptor (AR) mutation (XwtXtfm-mosaics) express a mosaic of androgen-sensitive and androgen-insensitive motoneurons in the SNB, whereas the BC/LA target musculature appears to be uniformly sensitive to androgens. In adult mosaics, testosterone administration resulted in a reduction in the proportion of androgen-sensitive cells expressing CGRP, whereas no such reduction was observed in the androgen-insensitive population, indicating that neuronal AR plays an essential role in the neuromuscular regulation of CGRP expression in these motoneurons. This provides the first in vivo demonstration of AR regulation of gene expression unambiguously localized to a neuronal population.  (+info)

Point mutations in the steroid-binding domain of the androgen receptor gene of five Japanese patients with androgen insensitivity syndrome. (3/139)

We analyzed the androgen receptor (AR) gene in five Japanese patients diagnosed with androgen insensitivity syndrome (AIS). All AR genes from the five patients had single-nucleotide substitutions, which introduced a premature termination codon in three patients (Gln640, Arg752, and Gln640 and Trp751), and a single amino acid substitution in two patients (Arg831 to Gln, and Leu812 to Phe). All the mutations occurred in the steroid-binding domain, comprising exons D through G. The three patients with the premature termination codon(s) and the one patient with Arg831Gln were clinically diagnosed as having complete AIS, while the patient with Leu812Phe had a partial form of AIS. Pubic skin fibroblasts from four of the five patients did not show detectable androgen binding. These data on mutations that have not been reported previously, provide valuable information for the further characterization of structural and functional relationships in the steroid-binding domain of the AR protein.  (+info)

Coregulator small nuclear RING finger protein (SNURF) enhances Sp1- and steroid receptor-mediated transcription by different mechanisms. (4/139)

The small nuclear RING finger protein SNURF is not only a coactivator in steroid receptor-dependent transcription but also activates transcription from steroid-independent promoters. In this work, we show that SNURF, via the RING finger domain, enhances protein binding to Sp1 elements/GC boxes and interacts and cooperates with Sp1 in transcriptional activation. The activation of androgen receptor (AR) function requires regions other than the RING finger of SNURF, and SNURF does not influence binding of AR to cognate DNA elements. The zinc finger region (ZFR) together with the hinge region of AR are sufficient for contacting SNURF. The nuclear localization signal in the boundary between ZFR and the hinge region participates in the association of AR with SNURF, and a receptor mutant lacking the C-terminal part of the bipartite nuclear localization signal shows attenuated response to coexpressed SNURF. Some AR ZFR point mutations observed in patients with partial androgen insensitivity syndrome or male breast cancer impair the interaction of AR with SNURF and also render AR refractory to the transcription-activating effect of SNURF. Collectively, SNURF modulates the transcriptional activities of androgen receptor and Sp1 via different domains, and it may act as a functional link between steroid- and Sp1-regulated transcription.  (+info)

Pituitary-gonadal axis in male undermasculinisation. (5/139)

AIMS: To study the value of assessing serum concentrations of luteinising hormone (LH), follicle stimulating hormone (FSH), testosterone, and dihydrotestosterone (DHT) in patients with male undermasculinisation not caused by androgen insensitivity. METHODS: A retrospective study of a register of cases of male undermasculinisation (20 with abnormal testes, eight with 5alpha-reductase deficiency, three with testosterone biosynthetic defects, seven with Drash syndrome, and 210 undiagnosed). RESULTS: A human chorionic gonadotropin (hCG) stimulation test was performed in 66 of 185 children with male undermasculinisation. In 41 of 66 patients the dose of hCG was either 1000 U or 1500 U on three consecutive days. The rise in testosterone was related to basal serum testosterone and was not significantly different between the two groups. Testosterone:DHT ratio in patients with 5alpha-reductase deficiency was 12.5-72.8. During early infancy, baseline concentrations of LH and FSH were often within normal reference ranges. In patients with abnormal testes, median pre-LHRH (luteinising hormone releasing hormone) concentrations of LH and FSH were 2 and 6.4 U/l, respectively, and post-LHRH concentrations were 21 and 28 U/l. An exaggerated response to LHRH stimulation was observed during mid-childhood in children where the diagnosis was not clear and in all children with abnormal testes. CONCLUSIONS: The testosterone:DHT ratio following hCG stimulation is more reliable than the basal testosterone:DHT ratio in identifying 5alpha-reductase deficiency. During infancy, the LHRH stimulation test may be more reliable in identifying cases of male undermasculinisation due to abnormal testes than basal gonadotrophin concentrations.  (+info)

Tissue interaction in androgen response of embryonic mammary rudiment of mouse: identification of target tissue for testosterone. (6/139)

In the androgen response of the embryonic mammary rudiment of the mouse, both gland epithelium and surrounding mesenchyme are visibly involved. The question whether this is due to a direct action of testosterone on both tissues was investigated in experimental combination of mammary epithelium and mammary mesenchyme, derived either from normal or from androgen-insensitive (XTfm/Y) embryos. A typical androgen response occurred in combinations of androgen-insensitive epithelium with normal mesenchyme, whereas all combinations of normal epithelium with androgen-insensitive mesenchyme failed to respond. It is therefore concluded that only the mesenchyme of the mammary rudiment is the target tissue for testosterone, and that all changes in the gland epithelium, including its necrosis, are secondarily caused by testosterone-activated mesenchymal cells.  (+info)

Desert hedgehog (Dhh) gene is required in the mouse testis for formation of adult-type Leydig cells and normal development of peritubular cells and seminiferous tubules. (7/139)

Testes from adult and prepubertal mice lacking the Desert hedgehog (DHH:) gene were examined in order to describe further the role of Dhh in spermatogenesis because, in a previous report, DHH:-null male mice were shown to be sterile. Dhh is a signaling molecule expressed by Sertoli cells. Its receptor, patched (Ptc), has been previously localized to Leydig cells and is herein described as being localized also to peritubular cells. Two phenotypes of the mice were observed: masculinized (7.5% of DHH:-null males) and feminized (92.5%), both of which displayed abnormal peritubular tissue and severely restricted spermatogenesis. Testes from adult feminized animals lacked adult-type Leydig cells and displayed numerous undifferentiated fibroblastic cells in the interstitium that produced abundant collagen. The basal lamina, normally present between the myoid cells and Sertoli cells, was focally absent. We speculate that the abnormal basal lamina contributed to other characteristics, such as extracordal gonocytes, apolar Sertoli cells, and anastomotic seminiferous tubules. The two DHH:-null phenotypes described have common peritubular cell defects that may be indicative of the essential role of peritubular cells in development of tubular morphology, the differentiation of Leydig cells, and the ultimate support of spermatogenesis.  (+info)

Neuronal size in the spinal nucleus of the bulbocavernosus: direct modulation by androgen in rats with mosaic androgen insensitivity. (8/139)

The motoneurons of the spinal nucleus of the bulbocavernosus (SNB) and its target muscles, the bulbocavernosus and levator ani, form a sexually dimorphic circuit that is developmentally dependent on androgen exposure and exhibits numerous structural and functional changes in response to androgen exposure in adulthood. Castration of male adult rats causes shrinkage of SNB somata, and testosterone replacement reverses this effect, but the site at which androgen is acting to cause this change is undetermined. We exploited the X-chromosome residency of the androgen receptor (AR) gene to generate androgenized female rats that were heterozygous for the testicular feminization mutant (tfm) AR mutation and that, as a consequence of ontogenetic random X-inactivation, expressed a blend of androgen-sensitive wild-type cells and tfm-affected androgen-insensitive cells in the SNB. Chronic testosterone treatment of adult mosaics increased soma sizes only in androgen-competent wild-type SNB cells. The size of tfm-affected SNB somata in the same animals did not differ from the size of either the wild-type or tfm-affected SNB neurons in control mosaics that did not receive androgen treatment in adulthood. Because the muscle targets of the SNB are known to be uniformly androgen-sensitive in tfm mosaics, this mosaic analysis provides unambiguous evidence that androgenic effects on motoneuron soma size are mediated locally in the SNB. It is possible that the neuronal AR plays a permissive role in coordinating the actions of androgen.  (+info)

People with AIS typically have female physical characteristics, such as a lack of facial and body hair, a narrow pelvis, and underdeveloped genitalia. They may also experience infertility and heightened risk of certain medical conditions, such as gonadal dysgenesis and cardiovascular disease.

AIS is diagnosed through a combination of clinical evaluation, hormone level testing, and genetic analysis. Treatment options for the condition include hormone replacement therapy to promote masculinization and address any associated medical issues, as well as psychological support and counseling to address any gender identity or expression concerns.

It is important to note that AIS is a rare condition, and its prevalence is estimated to be around 1 in 10,000 to 1 in 20,000 male births. However, the condition is often misdiagnosed or undiagnosed, and some individuals may not receive an accurate diagnosis until later in life.

Overall, Androgen Insensitivity Syndrome is a complex and rare genetic disorder that can have significant implications for the physical and psychological well-being of affected individuals. It is important to provide appropriate medical care and support to those with AIS to help them live healthy and fulfilling lives.

The term "gonadal dysgenesis" is used to describe a wide spectrum of abnormalities that affect the development of the gonads, including:

1. Turner Syndrome: A rare genetic disorder caused by a missing or partially deleted X chromosome, which can result in short stature, infertility, and characteristic physical features such as a small head, ears, and hands.
2. Klinefelter Syndrome: A condition in which an individual has an extra X chromosome, leading to infertility, hypogonadism, and a range of physical characteristics such as breast enlargement and small testes.
3. Androgen Insensitivity Syndrome (AIS): A condition in which the body is unable to respond to androgens (male hormones), resulting in female physical characteristics despite the presence of XY chromosomes.
4. Persistent Mullerian Duct Syndrome (PMDS): A rare condition in which the müllerian ducts (the precursors of the uterus and fallopian tubes) do not properly develop, leading to a range of physical and reproductive abnormalities.
5. Congenital Adrenal Hyperplasia (CAH): An inherited disorder that affects the production of hormones by the adrenal glands, which can lead to ambiguous genitalia and other physical symptoms.

The exact cause of gonadal dysgenesis is not always known, but it can be due to genetic mutations, chromosomal abnormalities, or environmental factors. Diagnosis is typically made based on a combination of clinical features, hormone levels, and genetic testing. Treatment options vary depending on the specific condition and may include hormone therapy, surgery, and/or psychological support.

There are several types of hypospadias, ranging from mild to severe, and they can be classified based on the location of the opening and the extent of the defect. Some common types of hypospadias include:

* Mild hypospadias: The urethral opening is located just behind the tip of the penis.
* Moderate hypospadias: The urethral opening is located further back on the shaft of the penis.
* Severe hypospadias: The urethral opening is located on the scrotum or perineum (the area between the base of the penis and the anus).

Hypospadias can be caused by a variety of factors, including genetic mutations, hormonal imbalances, and abnormalities during fetal development. In some cases, hypospadias may be associated with other congenital anomalies, such as chromosomal abnormalities or heart defects.

Symptoms of hypospadias can include:

* Incontinence (urine leaking from the penis)
* Difficulty urinating
* Abnormal appearance of the penis
* Painful urination

Treatment for hypospadias typically involves surgery to correct the defect and improve urinary function. The type of surgery used will depend on the severity of the condition and the age of the patient. In some cases, multiple procedures may be necessary to achieve optimal results.

In addition to surgery, other treatments for hypospadias may include:

* Medications to help manage incontinence or other symptoms
* Devices such as catheters or urethral dilators to help improve urinary function
* Lifestyle changes, such as avoiding certain foods or drinks that can irritate the bladder

It's important for individuals with hypospadias to follow their healthcare provider's recommendations for treatment and follow-up care to ensure the best possible outcome. With appropriate treatment, many individuals with hypospadias can achieve good urinary function and a normal quality of life.

The term 'disorders of sex development' (DSD) is used to encompass a wide range of conditions that affect the development of the reproductive and sexual systems in individuals with chromosomes XY. The term 'intersex' is sometimes used interchangeably with DSD, but some intersex advocates argue that this term can be problematic, as it has been historically used to pathologize and stigmatize individuals with these conditions.

The 46, XY disorders of sex development can be broadly classified into two categories: (1) genetic and hormonal, and (2) anatomical. Examples of genetic and hormonal DSDs include Klinefelter syndrome (47, XXY), Turner syndrome (45, X), and androgen insensitivity syndrome (AIS). Anatomical DSDs can include a range of physical characteristics, such as ambiguous genitalia, hypospadias, or undescended testes.

The management of 46, XY disorders of sex development is often complex and multidisciplinary, involving specialists from fields such as endocrinology, urology, gynecology, psychology, and social work. Treatment may include hormone therapy, surgery, or other interventions to support the individual's physical and emotional well-being, as well as their gender identity and expression.

It is important to note that the term 'disorder' in '46, XY disorders of sex development' can be problematic, as it can imply that there is something inherently wrong or abnormal about these conditions. Some advocates argue that a more neutral term, such as ' variations of sex development,' would be more appropriate and respectful of individuals with these conditions.

In the medical field, the term is often used to describe various conditions that affect gender development or sexual differentiation in individuals with variations in sex chromosomes, hormones, or genitalia. Feminization can occur in individuals assigned male at birth but who exhibit female physical characteristics, such as those with congenital adrenal hyperplasia (CAH) or other intersex traits.

The term is also used to describe the effects of estrogen on the male body, particularly during puberty. For example, boys taking estrogen medication for hormone therapy may experience feminization of their physical features, such as breast tissue growth and a softer voice.

It's important to note that the term feminization is sometimes used in medical contexts to describe a process or outcome that is perceived as negative or undesirable, particularly when it comes to gender identity or expression. However, it's essential to recognize that all individuals, regardless of their gender identity or expression, deserve respect and support in their healthcare needs.

In summary, feminization within the medical field refers to a process or condition whereby male characteristics are acquired by an individual or group, often as a result of hormonal or genetic factors. The term is used to describe various conditions affecting gender development or sexual differentiation and the effects of estrogen on the male body. However, it's important to recognize that the term can be perceived as negative, and healthcare providers should approach patients with respect and sensitivity regardless of their gender identity or expression.

The term "Disorders of Sex Development" was introduced in the early 2000s as a more inclusive and neutral way to describe these conditions, replacing outdated and stigmatizing terms such as "intersex." DSD includes a wide range of conditions, some of which may be genetic in origin, while others may result from hormonal or environmental factors.

The diagnosis and management of DSD can be complex and require a multidisciplinary team of healthcare providers, including endocrinologists, geneticists, urologists, and psychologists. Treatment options may include hormone therapy, surgery, and counseling, and the goals of treatment are to alleviate symptoms, improve quality of life, and support the individual's self-identification and gender expression.

It is important to note that DSD is a medical term and does not have any implications for an individual's gender identity or expression. All individuals with DSD have the right to live as their authentic selves, regardless of their gender identity or expression.

Examples of syndromes include:

1. Down syndrome: A genetic disorder caused by an extra copy of chromosome 21 that affects intellectual and physical development.
2. Turner syndrome: A genetic disorder caused by a missing or partially deleted X chromosome that affects physical growth and development in females.
3. Marfan syndrome: A genetic disorder affecting the body's connective tissue, causing tall stature, long limbs, and cardiovascular problems.
4. Alzheimer's disease: A neurodegenerative disorder characterized by memory loss, confusion, and changes in personality and behavior.
5. Parkinson's disease: A neurological disorder characterized by tremors, rigidity, and difficulty with movement.
6. Klinefelter syndrome: A genetic disorder caused by an extra X chromosome in males, leading to infertility and other physical characteristics.
7. Williams syndrome: A rare genetic disorder caused by a deletion of genetic material on chromosome 7, characterized by cardiovascular problems, developmental delays, and a distinctive facial appearance.
8. Fragile X syndrome: The most common form of inherited intellectual disability, caused by an expansion of a specific gene on the X chromosome.
9. Prader-Willi syndrome: A genetic disorder caused by a defect in the hypothalamus, leading to problems with appetite regulation and obesity.
10. Sjogren's syndrome: An autoimmune disorder that affects the glands that produce tears and saliva, causing dry eyes and mouth.

Syndromes can be diagnosed through a combination of physical examination, medical history, laboratory tests, and imaging studies. Treatment for a syndrome depends on the underlying cause and the specific symptoms and signs presented by the patient.

A rare genetic disorder characterized by an inability to feel pain due to a defect in the functioning of nerve fibers that transmit pain signals to the brain. Individuals with this condition may not be able to perceive painful stimuli or may have a reduced sensitivity to pain, which can lead to unintentional injuries or complications from medical procedures. It is also known as hereditary sensory and autonomic neuropathy (HSAN) type IV.

Synonyms: HSAN type IV; congenital insensitivity to pain; hereditary pain insensitivity.

Etymology: From the Latin word "congenitus" meaning "born with," and the Greek word "algesia" meaning "pain."

Pain Insensitivity, Congenital: a condition in which an individual lacks the ability to feel pain due to a genetic mutation that affects the functioning of nerve fibers responsible for transmitting pain signals to the brain.

Individuals with this condition may have a range of symptoms, including:

* Undescended testes (cryptorchidism) or absent testes
* Infertility or lack of secondary sexual characteristics (such as beard growth or deepened voice)
* Variations in the shape and structure of the testes
* Chromosomal abnormalities, such as an extra X or Y chromosome

The cause of gonadal dysgenesis, 46,XY is not fully understood, but it is thought to be related to genetic mutations that affect the development of the testes during fetal development. Treatment options for this condition may include hormone replacement therapy, surgery to correct undescended testes, and assisted reproductive technology (such as in vitro fertilization) to achieve pregnancy.

It is important to note that gonadal dysgenesis, 46,XY is a rare condition and may not be the sole cause of infertility or other reproductive issues. A thorough medical evaluation and genetic testing may be necessary to determine the underlying cause of these issues.

1. Alopecia areata: This is an autoimmune disorder that causes patchy hair loss on the scalp or body.
2. Androgenetic alopecia (male pattern baldness): This is a common condition in which men experience hair loss due to hormonal changes.
3. Telogen effluvium: This is a condition where there is an increase in the number of hair follicles that stop growing and enter the resting phase, leading to excessive hair shedding.
4. Alopecia totalis: This is a condition where all hair on the scalp is lost, including eyebrows and lashes.
5. Alopecia universalis: This is a condition where all body hair is lost.

Alopecia can be caused by a variety of factors, including genetics, hormonal imbalances, autoimmune disorders, and certain medications. Treatment options for alopecia depend on the underlying cause and may include medications, hair transplantation, or other therapies.

In medical literature, alopecia is often used as a term to describe the loss of hair in specific contexts, such as in the treatment of cancer patients or in the management of autoimmune disorders. It is also used to describe the side effects of certain medications, such as chemotherapy drugs that can cause hair loss.

There are several types of alopecia areata, including:

1. Alopecia areata patchy - This is the most common form of the disease, where hair loss occurs in patches on the scalp or other parts of the body.
2. Alopecia totalis - Hair loss occurs over the entire scalp.
3. Alopecia universalis - Hair loss occurs over the entire body, including the scalp, eyebrows, and eyelashes.
4. Alopecia areata barbae - Hair loss occurs in the beard area.
5. Alopecia areata traction - Hair loss occurs due to pulling or tension on the hair shaft, often seen in children who pull their own hair.

The symptoms of alopecia areata may include:

1. Patchy hair loss
2. Thinning of hair
3. Redness and scalp inflammation
4. Itching or burning sensation on the scalp
5. Nail changes such as ridging, thinning, or pitting

Alopecia areata can be diagnosed through a physical examination and medical history. A skin scraping or biopsy may be performed to confirm the diagnosis.

Treatment for alopecia areata depends on the severity and location of hair loss, as well as the individual's overall health. Options may include:

1. Topical corticosteroids - Medicated creams or ointments applied directly to the affected area to reduce inflammation and promote hair growth.
2. Oral corticosteroids - Medications taken by mouth to reduce inflammation and suppress the immune system.
3. Anthralin - A medication that is applied to the skin to reduce inflammation and promote hair growth.
4. Immunotherapy - Injections or tablets that stimulate the immune system to attack cancer cells, but also can cause hair loss.
5. Wigs, hats, or other hairpieces - Used to cover up patchy hair loss.
6. Counseling or therapy - To help cope with the emotional impact of hair loss.
7. Hair transplantation - A surgical procedure that involves moving healthy hair follicles from one part of the scalp to another.

It is important to note that these treatments may not work for everyone and may have side effects. It's important to talk to a doctor or dermatologist to determine the best course of treatment for alopecia areata.

In addition to medical treatment, there are also some natural remedies that can help with alopecia areata such as:

1. Diet and nutrition - Eating a balanced diet rich in vitamins and minerals can promote hair growth.
2. Stress management - High stress levels have been linked to alopecia areata, so finding ways to manage stress, such as through exercise or meditation, may help.
3. Saw palmetto - A herb that has been shown to promote hair growth and slow down hair loss.
4. Fish oil - Omega-3 fatty acids found in fish oil have been shown to promote hair growth.
5. Coconut oil - Applying coconut oil to the scalp may help to stimulate hair growth.
6. Henna - A natural dye that can be used to color and strengthen hair, and may also help to promote hair growth.
7. Rosemary essential oil - May help to promote hair growth by increasing blood flow to the scalp.
8. Lavender essential oil - May help to reduce stress and promote relaxation, which can help with alopecia areata.

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MAIS is the mildest and least known form of androgen insensitivity syndrome. The existence of a variant of androgen ... this category of androgen insensitivity is diagnosed when the degree of androgen insensitivity in an individual with a 46,XY ... Mild androgen insensitivity syndrome (MAIS) is a condition that results in a mild impairment of the cell's ability to respond ... Androgen insensitivity syndrome is the largest single entity that leads to 46,XY undermasculinization. Individuals with mild ( ...
... mild androgen insensitivity syndrome (MAIS) when the external genitalia is that of a typical male, and partial androgen ... "A novel mutation c.118delA in exon 1 of the androgen receptor gene resulting in complete androgen insensitivity syndrome within ... and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen ... "Height and bone mineral density in androgen insensitivity syndrome with mutations in the androgen receptor gene". Osteoporos ...
... is diagnosed when the degree of androgen insensitivity in an individual with a 46,XY ... "Androgen insensitivity syndrome: somatic mosaicism of the androgen receptor in seven families and consequences for sex ... androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome". J. Clin ... "A novel mutation c.118delA in exon 1 of the androgen receptor gene resulting in complete androgen insensitivity syndrome within ...
Likewise, breast cancer has never been reported in women with complete androgen insensitivity syndrome, who similarly have a ... 934-. ISBN 978-0-323-29738-7. Hughes IA, Werner R, Bunch T, Hiort O (2012). "Androgen insensitivity syndrome". Semin. Reprod. ... Estrogens and Androgens in Mammary Cancer". JAMA: The Journal of the American Medical Association. 140 (15): 1214. doi:10.1001/ ... Phillips I, Shah SI, Duong T, Abel P, Langley RE (2014). "Androgen Deprivation Therapy and the Re-emergence of Parenteral ...
Androgen insensitivity syndrome; variable degrees of undervirilization and/or infertility in XY persons of either sex Barth ... Alport syndrome; glomerulonephritis, endstage kidney disease, and hearing loss. A minority of Alport syndrome cases are due to ... Hunter syndrome; potentially causing hearing loss, thickening of the heart valves leading to a decline in cardiac function, ... Coffin-Lowry syndrome; severe intellectual disability sometimes associated with abnormalities of growth, cardiac abnormalities ...
Lister Hill National Center for Biomedical Communications (2008). "Androgen insensitivity syndrome". Genetics Home Reference. U ... karyotype and a functional SRY gene can have an outwardly female phenotype due to an underlying androgen insensitivity syndrome ... These athletes were found to have either partial or full androgen insensitivity, despite having an SRY gene, making them ... XX male syndrome expressers may develop breasts, and those with Swyer syndrome may have facial hair. While the presence or ...
With androgen insensitivity syndrome, patients do not have uteruses or menstruate, and if untreated may find sexual intercourse ... "Androgen insensitivity syndrome". Genetics Home Reference. Retrieved 14 November 2019. Penn Museum. "Queen Puabi's Headdress". ... that it was during a temporary fit of insanity due to the discovery that Katharine had Androgen insensitivity syndrome and ...
"Androgen Insensitivity Syndrome (AIS)". Intersex Society of North America. Retrieved 17 June 2013. "Jazz Vocalist, Intersex ... Atwood was born with Androgen Insensitivity Syndrome (AIS), an intersex trait occurring in approximately 1 in 20,000 people. In ... a person with complete AIS, the body's cells are unable to respond to androgens, male hormones. She discussed AIS for the first ...
RMRP Androgen insensitivity syndrome; 300068; AR Androgen insensitivity, partial, with or without breast cancer; 312300; AR ... AKAP9 Long QT syndrome-3; 603830; SCN5A Long QT syndrome-4; 600919; ANK2 Long QT syndrome-7; 170390; KCNJ2 Long QT syndrome-9; ... TGFBR2 Long QT syndrome 12; 612955; SNT1 Long QT syndrome 13; 613485; KCNJ5 Long QT syndrome-1; 192500; KCNQ1 Long QT syndrome- ... KRAS Noonan syndrome 4; 610733; SOS1 Noonan syndrome 5; 611553; RAF1 Noonan syndrome 6; 613224; NRAS Noonan-like syndrome with ...
Androgen Insensitivity Syndrome an X-linked recessive condition which affects male horses, where external genitalia fails to ... "Androgen Insensitivity Syndrome (AIS) , Veterinary Genetics Laboratory". vgl.ucdavis.edu. Lynghaug, Fran (2009). The Official ...
GeneReviews/NCBI/NIH/UW entry on Androgen Insensitivity Syndrome OMIM entries on Androgen Insensitivity Syndrome GeneReviews/ ... The androgen insensitivity syndrome, formerly known as testicular feminization, is caused by a mutation in the androgen ... be short during puberty but end up taller as adults as in androgen insensitivity syndrome or estrogen insensitivity syndrome. ... Brown TR (1995). "Human androgen insensitivity syndrome". Journal of Andrology. 16 (4): 299-303. PMID 8537246. Archived from ...
Hart is also a former president of the Androgen Insensitivity Syndrome Support Group Australia. Hart co-directed a documentary ... Phoebe Hart is an Australian filmmaker, lecturer and intersex rights activist, born with Androgen Insensitivity Syndrome. Hart ... "What's new with the AISSG Australia?". Androgen Insensitivity Syndrome Support Group Australia. ""Orchids, My Intersex ...
The Androgen Insensitivity Syndrome Support Group Australia (AISSGA) was founded, thought to be the first intersex civil ... Androgen Insensitivity Support Syndrome Support Group Australia; Intersex Trust Aotearoa New Zealand; Organisation Intersex ... Androgen Insensitivity Syndrome Support Group Australia; Briffa, Anthony (22 January 2003). "Discrimination against People ... In March 2017, representatives of Androgen Insensitivity Syndrome Support Group Australia, Intersex Trust Aotearoa New Zealand ...
... with the establishment of the Androgen Insensitivity Syndrome Support Group Australia in 1985. The Androgen Insensitivity ... "Androgen Insensitivity Syndrome Support Group (AISSG)". Archived from the original on 2016-01-21. Retrieved 2016-05-16. "Dear ... Androgen Insensitivity Syndrome Support Group Australia) Intersex Trust Aotearoa New Zealand, also known as Intersex Awareness ... List of intersex people Legal recognition of intersex people List of LGBT rights organizations Androgen Insensitivity Syndrome ...
... with the establishment of the Androgen Insensitivity Syndrome Support Group Australia in 1985. The Androgen Insensitivity ... Diamond, Milton; Linda, Watson (2004). "Androgen insensitivity syndrome and Klinefelter's syndrome: sex and gender ... Androgen insensitivity syndrome is the most common cause of 46, XY intersex. This condition used to be called "true ... In the cases where gonads may pose a cancer risk, as in some cases of androgen insensitivity syndrome, concern has been ...
The Androgen Insensitivity Syndrome Support Group (UK) established in 1988, three years after an equivalent Australian group, ... "Androgen Insensitivity Syndrome Support Group (AISSG)". Archived from the original on 21 January 2016. Retrieved 16 May 2016. ... Androgen Insensitivity Syndrome Support Group Australia; Briffa, Anthony (22 January 2003). "Discrimination against People ... including 5 alpha reductase deficiency and androgen insensitivity syndrome, traits evident in elite women athletes and "the ...
... is an Australian artist, film maker, and intersex human rights activist, born with androgen insensitivity syndrome ... "What's new with the AISSG Australia?". Androgen Insensitivity Syndrome Support Group Australia. "Bonnie Hart talks about ... also had androgen insensitivity syndrome. Hart is a "high-energy avant-garde performer" and multidisciplinary artist, ...
"Queensland gender reforms delayed until next year". Androgen Insensitivity Support Syndrome Support Group Australia; Intersex ... In March 2017, representatives of Androgen Insensitivity Syndrome Support Group Australia and Organisation Intersex ...
Androgen Insensitivity Support Syndrome Support Group Australia; Intersex Trust Aotearoa New Zealand; Organisation Intersex ... In March 2017, representatives of Androgen Insensitivity Syndrome Support Group Australia and Organisation Intersex ...
Androgen Insensitivity Support Syndrome Support Group Australia; Intersex Trust Aotearoa New Zealand; Organisation Intersex ... In March 2017, representatives of Androgen Insensitivity Syndrome Support Group Australia and Organisation Intersex ...
Androgen Insensitivity Support Syndrome Support Group Australia; Intersex Trust Aotearoa New Zealand; Organisation Intersex ...
Androgen Insensitivity Support Syndrome Support Group Australia; Intersex Trust Aotearoa New Zealand; Organisation Intersex ...
ISBN 978-0-9942513-7-4. Androgen Insensitivity Support Syndrome Support Group Australia; Intersex Trust Aotearoa New Zealand; ...
Androgen Insensitivity Support Syndrome Support Group Australia; Intersex Trust Aotearoa New Zealand; Organisation Intersex ... Tony Briffa is also the Vice-President of the Androgen Insensitivity Syndrome Support Group Australia. Intersex Human Rights ...
Androgen insensitivity syndrome Intersex human rights Intersex rights in Australia Androgen Insensitivity Syndrome Support ... isupport.org.au "Androgen Insensitivity Syndrome Support Group (AISSG)". Androgen Insensivitity Syndrome Support Group. ... for people with intersex variations such as androgen insensitivity syndrome. It changed name from the Androgen Insensitivity ... Androgen Insensitivity Syndrome Support Group Australia (12 March 2013). "Submission to the Senate Inquiry on the involuntary ...
Androgen Insensitivity Support Syndrome Support Group Australia; Intersex Trust Aotearoa New Zealand; Organisation Intersex ... "Serum Androgen Levels in Elite Female Athletes". The Journal of Clinical Endocrinology & Metabolism. 99 (11): -2014-1391. doi: ... Evidence from Turner and Klinefelter Syndromes". Journal of Neuroscience. 34 (10): 3509-3516. doi:10.1523/JNEUROSCI.2790- ...
Androgen Insensitivity Support Syndrome Support Group Australia; Intersex Trust Aotearoa New Zealand; Organisation Intersex ... Androgen Insensitivity Support Syndrome Support Group Australia; Intersex Trust Aotearoa New Zealand; Organisation Intersex ... including 5 alpha reductase deficiency and androgen insensitivity syndrome, traits evident in elite women athletes and "the ... "Serum Androgen Levels in Elite Female Athletes". The Journal of Clinical Endocrinology & Metabolism. 99 (11): -2014-1391. doi: ...
Androgen Insensitivity Support Syndrome Support Group Australia; Intersex Trust Aotearoa New Zealand; Organisation Intersex ... In March 2017, representatives of Androgen Insensitivity Syndrome Support Group Australia and Organisation Intersex ...
Androgen Insensitivity Support Syndrome Support Group Australia; Intersex Trust Aotearoa New Zealand; Organisation Intersex ...
Andrology Endocrine system Exercise and androgen levels Androgen insensitivity syndrome Androgen insufficiency syndrome ... Exogenous androgen supplements can be used as a male contraceptive. Elevated androgen levels caused by use of androgen ... Higher androgen levels lead to increased expression of androgen receptor. Circulating levels of androgens can influence human ... see the androgen replacement therapy and anabolic steroid articles. The main subset of androgens, known as adrenal androgens, ...
... see androgen insensitivity syndrome (AIS) For a second condition that causes people who have XY chromosomes to have a feminine ... XX male syndrome, also known as de la Chapelle syndrome, is a rare congenital intersex condition in which an individual with a ... Since XX male syndrome is variable in its presentation, the specifics of treatment varies widely as well. In some cases, ... This syndrome is diagnosed through various detection methods and occurs in approximately 1:20,000 newborn males, making it much ...
Sexual desire is not decreased in women with complete androgen insensitivity syndrome (CAIS) relative to unaffected women in ... Men with aromatase deficiency and estrogen insensitivity syndrome, and hence estrogen deficiency, appear to have normal sexual ... Androgen receptor antagonists such as flutamide and bicalutamide cause little to no decrease in sexual desire in women. Low ... Research suggests androgens, such as testosterone, are not sufficient by themselves to prompt sexual motivation in females. In ...
... homecoming queen and champion hurdler finds her life turned upside-down after a diagnosis with androgen insensitivity syndrome ... Jack and his Extra Y is a children's book for kids with XYY syndrome. Kyle and His Extra X and Y is a children's book for kids ... Gregory and his Extra X is a children's book for kids with Klinefelter syndrome. Elizabeth and her Extra X is a children's book ... for kids with Triple X syndrome. The novel by Alice Darwin, published in 2014. The story is about three women with MRKH. The ...
Meem Blue Diamond Society Pink Dot SG Young Out Here Solidarity for LGBT Human Rights of Korea Androgen Insensitivity Syndrome ...
Androgen-dependent condition Estrogen insensitivity syndrome "Estrogen: Hormone, Function, Levels & Imbalances". Cleveland ... Klinefelter's syndrome, and aromatase excess syndrome. Such conditions may be treated with drugs with antiestrogen actions, ... Polycystic ovarian syndrome (PCOS) is seen as numerous cysts developing on the ovaries, and this can be seen with additional ... "Polycystic Ovary Syndrome (PCOS)". www.hopkinsmedicine.org. 2022-02-28. Retrieved 2022-12-01. Ahmad Mir, Suhail; Rashid, ...
Androgen Insensitivity Syndrome), which follows with the evidence previously described regarding the SARG domain. Treatment ... "Androgen Receptor Expression in Androgen-independent Prostate Cancer Is Associated with Increased Expression of Androgen- ... but it is a suspected androgen receptor because it is up-regulated in the presence of androgens, but not glucocorticoids. The ... It can be noted that these highly conserved amino acids comprise much of the 3' end of the specifically androgen-regulated gene ...
Women with complete androgen insensitivity syndrome (CAIS), who have a non-functional androgen receptor (AR) and are immune to ... DHEA and other adrenal androgens such as androstenedione, although relatively weak androgens, are responsible for the ... In addition to its affinity for the androgen receptor, DHEA has also been found to bind to (and activate) the ERα and ERβ ... It functions as a metabolic intermediate in the biosynthesis of the androgen and estrogen sex steroids both in the gonads and ...
Androgen (testosterone and dihydrotestosterone) Ambiguous genitalia Intersex surgery Androgen insensitivity syndrome Congenital ... partial androgen insensitivity syndrome and 17β- hydroxysteroid dehydrogenase type 3 enzyme deficiencies). The measurement of ... XY DSD from other causes such as partial androgen insensitivity syndrome and 17β-hydroxysteroid dehydrogenase 3 deficiency. ... Imperato-McGinley, J; Zhu, Y.-S (December 2002). "Androgens and male physiology the syndrome of 5α-reductase-2 deficiency". ...
... androgen insensitivity syndrome. The book explores the unraveling of her school life, home life and sport life, once her ... has androgen insensitivity syndrome. Kristin Lattimer is a champion hurdler and homecoming queen who, after a painful first ...
Fröhlich syndrome (adiposogenital dystrophy), Klinefelter syndrome, androgen insensitivity syndrome, aromatase excess syndrome ... Antley-Bixler syndrome) or Marfan syndrome. Genetic testing for STEVOR, AMA1, or MSP1 genes specific for Plasmodium falciparum ... Marfan syndrome, Wilson-Turner X-linked intellectual disability syndrome, ... in conjunction with sagittal craniosynostosis syndrome, Antley-Bixler syndrome or one of its variants. It has also been ...
ANOTHER syndrome) Arrhenoblastoma Cretinism Cushing's syndrome Excess ovarian androgen release syndrome (ovarian SAHA syndrome ... Congenital insensitivity to pain with anhidrosis Delusional parasitosis (delusions of parasitosis, Ekbom syndrome, ... Turner syndrome Ulnar-mammary syndrome Van Der Woude syndrome Von Hippel-Lindau syndrome Watson syndrome Werner syndrome (adult ... Freeman-Sheldon syndrome, Windmill-Vane-Hand syndrome) Wilson-Turner syndrome Wolf-Hirschhorn syndrome (4p- syndrome) X-linked ...
... including complete androgen insensitivity syndrome, partial androgen insensitivity syndrome and mild androgen insensitivity ... It is similar in function to the Prader scale and is used to describe genitalia in cases of androgen insensitivity syndrome, ... Galani A, Kitsiou-Tzeli S, Sofokleous C, Kanavakis E, Kalpini-Mavrou A (2008). "Androgen insensitivity syndrome: clinical ... and corresponds to mild androgen insensitivity syndrome. Grades 6 and 7 are indicated when the external genitalia is fully ...
EIS is analogous to androgen insensitivity syndrome (AIS), a condition in which the androgen receptor (AR) is defective and ... In contrast to EIS, androgen insensitivity syndrome (AIS), a condition in which the androgen receptor (AR) is defective, is ... complete androgen insensitivity syndrome (CAIS), results in sterility, and hence cannot be passed on to offspring). EIS is not ... Estrogen insensitivity syndrome (EIS), or estrogen resistance, is a form of congenital estrogen deficiency or hypoestrogenism ...
Fröhlich syndrome (adiposogenital dystrophy), Klinefelter syndrome, androgen insensitivity syndrome, aromatase excess syndrome ... These include gynecomastia, Marfan syndrome, Wilson-Turner X-linked intellectual disability syndrome, ... in conjunction with sagittal craniosynostosis syndrome, and Antley-Bixler syndrome or one of its variants. DNA testing has ...
See the founding editor Paul Gray Complete androgen insensitivity syndrome Cais (surname) Central American Integration System ( ...
Having said this, it is more likely that oSDN morphology and homosexuality may be programmed through an androgen receptor that ... In a follow-up theoretical paper, previous research findings indicating higher rates of polycystic ovary syndrome (PCOS) in ... Rice argues that a misexpressed epigenetic modifier of testosterone sensitivity or insensitivity that affected development of ... The presence of the Y-chromosome in males prompts the development of testes, which release testosterone, the primary androgen ...
... karyotype analysis and testosterone levels are obtained to assess for MRKH or androgen insensitivity syndrome. If a uterus is ... The syndrome is characterized by Müllerian agenesis. In MRKH Syndrome, the Müllerian ducts develop abnormally and result in the ... Anti-androgen medications, such as spironolactone, can also be used to lower body androgen levels and restore menstruation. ... Turner syndrome is associated with a wide spectrum of features that vary with each case. However, one common feature of this ...
In complete androgen insensitivity syndrome, a condition in which the AR is defective and insensitive to androgens, there is ... In the absence of androgenic activity, such as in women with complete androgen insensitivity syndrome (CAIS), modest levels of ... ISBN 978-3-642-11183-9. Laron, Zvi (2004). "Laron Syndrome (Primary Growth Hormone Resistance or Insensitivity): The Personal ... and in complete estrogen insensitivity syndrome, a condition in which ERα is defective and insensitive to estrogen, breast ...
"L712V mutation in the androgen receptor gene causes complete androgen insensitivity syndrome due to severe loss of androgen ... "C601S mutation in the androgen receptor results in partial loss of androgen function". The Journal of Steroid Biochemistry and ... "G708E Mutation in the Androgen Receptor Results in Complete Loss of Androgen Function". Journal of Andrology. 32 (2): 193-198. ... "Ala 586 Asp mutation in androgen receptor disrupts transactivation function without affecting androgen binding". Fertility and ...
Androgen insensitivity syndrome Aromatase deficiency Congenital estrogen deficiency Disorders of sex development Estrogen ... Aromatase excess syndrome (AES or AEXS) is a rare genetic and endocrine syndrome which is characterized by an overexpression of ... androgen replacement therapy with non-aromatizable androgens such as DHT in males, and progestogens (which, by virtue of their ... Rare genetic syndromes, Syndromes affecting the endocrine system, Intersex variations). ...
His characteristics imply he most likely has Klinefelter's or a milder type of Androgen Insensitivity Syndrome, and was ...
... has been found in association with androgen insensitivity syndrome, mixed gonadal dysgenesis and Turner syndrome ... Women with Turner syndrome whose karyotype includes a Y chromosome (as in 45,X/46,XY mosaicism) are at increased risk for ... In a population-based study, the cumulative risk for women with Turner syndrome and Y chromosome material was 7.9 percent by ... Schoemaker MJ, Swerdlow AJ, Higgins CD, Wright AF, Jacobs PA (March 2008). "Cancer incidence in women with Turner syndrome in ...
Aarskog-Scott syndrome Adrenoleukodystrophy (ALD) Bruton's agammaglobulinemia Color blindness Complete androgen insensitivity ... Alport syndrome Coffin-Lowry syndrome (CLS) Fragile X syndrome Idiopathic hypoparathyroidism Incontinentia pigmenti Rett ... kinky hair syndrome) Ornithine carbamoyltransferase deficiency Wiskott-Aldrich syndrome Various failures in the SRY genes White ... Duchenne muscular dystrophy Fabry disease Glucose-6-phosphate dehydrogenase deficiency Haemophilia A and B Hunter syndrome ...
Find symptoms and other information about Androgen insensitivity syndrome. ... Androgen insensitivity syndrome. Other Names: AIS; Androgen resistance syndrome; Goldberg-Maxwell syndrome; Morris syndrome; ... Androgen resistance syndrome; Goldberg-Maxwell syndrome; Morris syndrome; Testicular feminization syndrome. Read More ... Androgen insensitivity syndrome is caused by genetic changes in the AR gene and is inherited in an X-linked recessive pattern. ...
Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. Explore ... medlineplus.gov/genetics/condition/androgen-insensitivity-syndrome/ Androgen insensitivity syndrome. ... Partial androgen insensitivity is thought to be at least as common as complete androgen insensitivity. Mild androgen ... Complete androgen insensitivity syndrome occurs when the body cannot use androgens at all. People with this form of the ...
Partial androgen insensitivity syndrome (PAIS) is a genetic (inherited) condition that occurs when the body cant respond to ... male sex hormones (androgens). Testosterone is a male sex hormone. ... PAIS is a type of androgen insensitivity syndrome. Androgen insensitivity syndrome is one of the conditions that are described ... Partial androgen insensitivity syndrome (PAIS) is a genetic (inherited) condition that occurs when the body cant respond to ...
AIS represents a spectrum of defects in androgen action and can be subdivided into three broad phenotypes: ... Androgen insensitivity syndrome (AIS) is typically characterized by evidence of feminization (i.e., undermasculinization) of ... complete androgen insensitivity syndrome; MAIS = mild androgen insensitivity syndrome; PAIS = partial androgen insensitivity ... complete androgen insensitivity syndrome (CAIS), partial androgen insensitivity syndrome (PAIS), and mild androgen ...
... mediated by the androgen receptor which is coded for by the androgen receptor gene (AR gene). Androgen insensitivity syndrome ( ... Androgen effects in humans are usually (but not always) ... Androgen insensitivity syndrome (AIS) is a condition in which ... Natural History Study of Individuals with Androgen Insensitivity Syndrome (AIS) Androgen effects in humans are usually (but not ... mediated by the androgen receptor which is coded for by the androgen receptor gene (AR gene). ...
Induced Lactation in a Mother Through Surrogacy With Complete Androgen Insensitivity Syndrome (CAIS) Magdalena LeCain 1 , Gemma ... Induced Lactation in a Mother Through Surrogacy With Complete Androgen Insensitivity Syndrome (CAIS) Magdalena LeCain et al. J ... Main issues: We describe the case of a mother through surrogacy with XY karyotype and complete androgen insensitivity syndrome ...
Androgen insensitivity syndrome (AIS), previously named testicular feminization syndrome, is an X-linked recessive disorder ... parents usually have difficulty accepting the diagnosis and may benefit from referral to the Androgen Insensitivity Syndrome ... Androgens are hormones required in male development. The principle androgens in humans are testosterone and its more potent ... The mechanism of the disorder is androgen resistance, rather than androgen deficiency, hence the name change. ...
CALDERON, Mauricio Giusti et al. Complete Androgen Insensitivity Syndrome and Literature Review. J. Hum. Growth Dev. [online]. ... BACKGROUNG: Complete Androgen Insensitivity Syndrome (CAIS) has been reported since 1923, but in 1953 it became known as " ... Incidence of androgen insensitivity syndrome in phenotypically females with inguinal hernia is estimated in 0.8% to 2.4%. This ... Palavras-chave : androgen-insensitivity syndrome; dihydrotestosterone receptor deficiency; sex differentiation disorders; ...
Invasive Ductal Carcinoma in a 46,XY Partial Androgen Insensitivity Syndrome Patient on Hormone Therapy.. Hoefgen, Holly R; ... She was diagnosed as 46,XY Disorder of Sexual Development with partial androgen insensitivity. To induce puberty, conjugated ... The hormonal management of patients with androgen insensitivity can be challenging. CASE An illustrative case is presented of a ...
Androgen-insensitivity syndrome; Androgen receptors; Disorders of sexual development Introduction. Androgen insensitivity ... Androgen insensitivity syndrome (AIS) is a rare genetic disease caused by various abnormalities in the androgen receptor (AR). ... Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome. Hum Mol Genet ... Severe forms of partial androgen insensitivity syndrome due to p.L830F novel mutation in androgen receptor gene in a Brazilian ...
catch some free androgen insensitivity syndrome to share through their techniques and rank them. be they give any ideas that ... Free Androgen Insensitivity Syndrome A Bibliography And Dictionary For Physicians Patients And Genome Researchers. by Nina 3 ... free androgen insensitivity syndrome a bibliography and dictionary for Thousands are sampled a free time to the step( F 7). ... free androgen insensitivity syndrome a: New York: server Press, 1975. rapidly understand that you begin nt a web. Your access ...
Partial androgen insensitivity syndrome describes a variety of disorders that result in androgen action less severe than those ... Androgen Insensitivity Syndrome, previously called as Testicular feminisation syndrome, is an X-linked recessive rare disorder ... "Phenotypic diversity in siblings with partial androgen insensitivity syndrome". Arch. Dis. Child. 76 (6): 529-31. doi: 10. 1136 ... Here we present a case of a 25year old female with partial androgen sensitivity syndrome with primary amenorrhoea with normal ...
Androgen insensitivity syndrome (Medical Encyclopedia) Also in Spanish * Infertility (Medical Encyclopedia) Also in Spanish ...
ORPHA:754 Androgen insensitivity syndrome. The phenotypic annotation of this disease is ongoing. ...
The exception to this is the diagnosis of androgen insensitivity syndrome with XY chromosomal complement in which the gonads ... The evaluation and management of vaginal agenesis or androgen insensitivity syndrome is beyond the scope of this article, but ... Androgen insensitivity is diagnosed based on findings of a blind vaginal pouch, with an XY chromosomal complement. Mayer- ... Vaginal agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome) with or without the presence of a uterus or functional endometrium ( ...
Your Guide to Androgen Insensitivity Syndrome (AIS). Medically reviewed by Kelly Wood, MD ... What Is Prader-Willi Syndrome?. Prader-Willi syndrome (PWS) is a genetic condition caused by changes in chromosome 15. There is ...
Androgen Insensitivity Syndrome. Androgen Insensitivity Syndrome (AIS) is a human disorder in which an individuals genetic sex ... Fetal Alcohol Syndrome (FAS). The concept Fetal Alcohol Syndrome (FAS) refers to a set of birth defects that occur in children ...
Androgen insensitivity syndrome.. Tadokoro-Cuccaro R; Hughes IA. Curr Opin Endocrinol Diabetes Obes; 2014 Dec; 21(6):499-503. ... Swyer syndrome: report of 5 cases].. Ben Temime R; Chechia A; Attia L; Ghodbane I; Boudaya F; Makhlouf T; Koubaa A. J Gynecol ... Hypoplastic uterus and clitoris enlargement in Swyer syndrome.. Hétu V; Caron E; Francoeur D. J Pediatr Adolesc Gynecol; 2010 ... Video-assisted gonadectomy in children with Ullrich Turner syndrome or 46,XY gonadal dysgenesis.. Tröbs RB; Hoepffner W; ...
Androgen insensitivity syndrome (AIS);. Complete androgen insensitivity (CAIS);. Partial androgen insensitivity (PAIS);. Mild ... mediated by the androgen receptor which is coded for by the androgen receptor gene (AR gene). Androgen Insensitivity Syndrome ( ... Androgen insensitivity syndrome;. metabolic parameters in AIS, CAIS, PAIS and MAIS;. Tumor Formation in AIS, CAIS, PAIS and ... Bone Mineral Density in Women Living with Complete Androgen Insensitivity Syndrome and Intact Testes or Removed Gonads. Sex Dev ...
Stromal cell hyperplasia in androgen insensitivity syndrome. *Testicular feminization. *Testicular lesion in androgen ...
Mild Androgen Insensitivity Syndrome Started by Melissa 14 Replies 16,456 Views October 17, 2006, 04:56:50 pm. by Melissa ...
Mann also brings up another unique condition called androgen insensitivity syndrome. "One in 20,000 genetically XY births are ... Needless to say, rare syndromes and deficiencies are not the same as someone deciding theyre transgender and should in no way ... resistant to androgens, the male hormones, and so babies are born with internal testes but typically female external traits." ...
MeSH Terms: Androgen Antagonists; Androgen-Insensitivity Syndrome/metabolism; Androgens/metabolism*; Animals; Animals, Newborn ... suggesting that initiation of some VBs is androgen independent. Tfm male mice are widely considered completely androgen ... VBs (6-8) were generally distributed bimodally on the left-right axis at both minimal and normal male androgen signaling. Yet ... These results suggest that VB number and distribution respond biphasically as androgen signaling increases from minimal, and ...
androgen insensitivity syndrome (E34.5-). *congenital adrenal hyperplasia (E25.0). *hemolytic anemias attributable to enzyme ...
There are many examples such as Klinefelter Syndrome, Androgen Insensitivity Syndrome, and Congenital Adrenal Hyperplasia. ...
partial androgen insensitivity syndrome Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome Partial Duplication ... Kearns-Sayre syndrome Keipert syndrome A syndrome characterized by craniofacial and digital abnormalities, mild to severe ... complex regional pain syndrome + congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, ... Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome ...
Cousen P, Messenger A. Female pattern hair loss in complete androgen insensitivity syndrome. Br J Dermatol. 2010 May;162(5): ... Androgens help control this cycle. However, too much stimulation of hair follicles by androgens may lead to a shorter growth ... Androgen receptors allow the body to respond appropriately to DHT and other androgens. Studies suggest that variations in the ... Androgens are important for normal male sexual development before birth and during puberty. Androgens also have other important ...
Some intersex conditions are Turner Syndrome, Androgen Insensitivity Syndrome, Klinefelters Syndrome, MRKH and Congenital ... Acquired immune deficiency syndrome (AIDS) is a very serious and often deadly disease of the immune system caused by HIV. AIDS ... premenstrual syndrome A varying set of symptoms that many people who menstruate experience just prior to their period. Possible ... Short for "premenstrual syndrome". A varying set of symptoms that many people who menstruate experience just prior to their ...
Testicular feminization - Complete androgen insensitivity syndrome # 13629 04.07.2016 Clinical Cases. 23 Cases Page 3 of 4 1 2 ...
  • It can be either complete (CAIS), mild (MAIS) or partial androgen insensitivity (PAIS) depending on the receptors response to testosterone. (ejournal-tnmgrmu.ac.in)
  • 1) Individuals ages 0-99 years old with known androgen insensitivity based on pathologic androgen receptor gene mutation or based on clinical diagnosis of complete androgen insensitivity (CAIS) based on 46 XY karyotype, presence of testis, absence of uterus, high testosterone without signs of virilization at birth or during purberty and/or multipl members in the family also presenting with clinical CAIS. (nih.gov)
  • Androgen effects in humans are usually (but not always) mediated by the androgen receptor which is coded for by the androgen receptor gene (AR gene). (nih.gov)
  • Mutations of the androgen receptor gene identified in perineal hypospadias. (bmj.com)
  • We have investigated the androgen binding status and androgen receptor gene of boys from two unrelated families. (bmj.com)
  • Qualitative androgen binding defects were shown in both sets of brothers and different point mutations of the androgen receptor gene were found in the two families. (bmj.com)
  • Partial androgen insensitivity syndrome (PAIS) is a genetic (inherited) condition that occurs when the body can't respond to male sex hormones (androgens). (medlineplus.gov)
  • PAIS is a type of androgen insensitivity syndrome . (medlineplus.gov)
  • Those individuals with PAIS who are raised as females and who undergo gonadectomy after puberty may need combined estrogen and androgen replacement therapy. (nih.gov)
  • A disorder also known as partial androgen insensitivity syndrome (PAIS). (nih.gov)
  • People with partial androgen insensitivity (also called Reifenstein syndrome) can have genitalia that look typically female, genitalia that have both male and female characteristics, or genitalia that look typically male. (medlineplus.gov)
  • There are many examples such as Klinefelter Syndrome, Androgen Insensitivity Syndrome, and Congenital Adrenal Hyperplasia. (hawaii.edu)
  • Androgens and androgen receptors also have other important functions in both males and females, such as regulating hair growth and sex drive. (medlineplus.gov)
  • Mutations in the AR gene prevent androgen receptors from working properly, which makes cells less responsive to androgens or prevents cells from using these hormones at all. (medlineplus.gov)
  • Androgen receptors allow the body to respond appropriately to DHT and other androgens. (nih.gov)
  • Studies suggest that variations in the AR gene result in androgen receptors that are more easily stimulated by androgens than normal, leading to increased activity of the receptors in hair follicles. (nih.gov)
  • Anti-androgens preferentially block the appropriate receptors, competing for binding sites on the cell's surface, effectively inhibiting the androgens' pathway. (susans.org)
  • These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor ( RECEPTORS, ANDROGEN ) gene. (nih.gov)
  • The mechanism of the disorder is androgen resistance, rather than androgen deficiency, hence the name change. (cancertherapyadvisor.com)
  • Acquired immune deficiency syndrome ( AIDS ) is a very serious and often deadly disease of the immune system caused by HIV . (scarleteen.com)
  • Androgen insensitivity syndrome (AIS) is typically characterized by evidence of feminization (i.e., undermasculinization) of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46,XY karyotype . (nih.gov)
  • We describe the case of a mother through surrogacy with XY karyotype and complete androgen insensitivity syndrome who wished to breastfeed her child. (nih.gov)
  • AIS patients have a male karyotype, 46,XY, normal testicular development and produce age-appropriate concentrations of androgen but some physical characteristics of a woman or a full female phenotype [ 1 ]. (e-apem.org)
  • The partial and mild forms of androgen insensitivity syndrome result when the body's tissues are partially sensitive to the effects of androgens. (medlineplus.gov)
  • People with mild androgen insensitivity are born with male sex characteristics, but they are often infertile and tend to experience breast enlargement at puberty. (medlineplus.gov)
  • Mild androgen insensitivity is much less common. (medlineplus.gov)
  • Mutations in the AR gene cause androgen insensitivity syndrome. (medlineplus.gov)
  • Loss-of-function mutations in the AR gene cause different degrees of impairment of androgen function, resulting in variable phenotypes of AIS. (cancertherapyadvisor.com)
  • It is a rare recessive genetic disorder linked to the X chromosome that results in different mutations in the androgen receptor. (bvsalud.org)
  • Partial androgen insensitivity syndrome describes a variety of disorders that result in androgen action less severe than those associated with complete androgen sensitivity. (ejournal-tnmgrmu.ac.in)
  • They believe that some of these disorders may be associated with elevated androgen levels, which may help explain why they tend to occur with androgen-related hair loss. (nih.gov)
  • Anti-androgens are often indicated to treat severe male sexual disorders, such as hypersexuality, (excessive sexual desire) "sexual deviation", and in hormonal therapy in prostate cancer, where there is a direct link between testosterone and the spread of cancer. (susans.org)
  • Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. (nih.gov)
  • Androgens are important for normal male sexual development before birth and during puberty. (nih.gov)
  • In the instance that puberty has either just started or is in progress, a strong anti-androgen will either reduce, or in some cases, stop the further development of secondary sex characteristics. (susans.org)
  • MEDICAL/ENDOCRINE CONDITIONS: evaluation and management of reproductive endocrine conditions such as precocious and delayed puberty, polycystic ovary syndrome, premature ovarian insufficiency, hirsutism and medical management of transgender adolescents. (nih.gov)
  • Androgen insensitivity syndrome (AIS) is defined as a disorder of sexual differentiation caused by complete or partial resistance to the biological action of androgens. (e-apem.org)
  • In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in Reifenstein Syndrome, to that of a normal male with INFERTILITY . (nih.gov)
  • Furthermore, severe familial hypospadias may be a previously unrecognised part of the phenotypic spectrum of the partial androgen insensitivity syndrome. (bmj.com)
  • Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have some physical traits of a woman. (nih.gov)
  • Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have mostly female external sex characteristics or signs of both male and female sexual development. (medlineplus.gov)
  • Androgen insensitivity syndrome (AIS) is a condition in which the body cannot sense the male hormones in the blood or tissue. (nih.gov)
  • Androgens are hormones required in male development. (cancertherapyadvisor.com)
  • It occurs gradually in response to androgen hormones produced in the Leydig cells of the testis (sexual differentiation). (e-apem.org)
  • One in 20,000 genetically XY births are resistant to androgens, the male hormones, and so babies are born with internal testes but typically female external traits. (newsbusters.org)
  • Researchers have determined that this form of hair loss, particularly in men, is related to hormones called androgens, specifically an androgen called dihydrotestosterone (DHT). (nih.gov)
  • An anti-androgen , (or androgen antagonist ) is any of a group of hormone antagonist compounds that are capable of preventing or inhibiting the biological effects of androgens , ( male sex hormones ) on normally responsive tissues in the body, which maintain male secondary sex characteristics . (susans.org)
  • Androgen insensitivity syndrome (AIS), previously named testicular feminization syndrome, is an X-linked recessive disorder causing failure of external male genitalia development in a patient with a 46,XY genotype. (cancertherapyadvisor.com)
  • She was diagnosed as 46,XY Disorder of Sexual Development with partial androgen insensitivity . (bvsalud.org)
  • Androgen Insensitivity Syndrome, previously called as Testicular feminisation syndrome, is an X-linked recessive rare disorder. (ejournal-tnmgrmu.ac.in)
  • Androgen Insensitivity Syndrome (AIS) is a human disorder in which an individual's genetic sex (genotype) differs from that individual's observable secondary sex characteristics (phenotypes). (asu.edu)
  • The aim of this natural history study is to define and describe a comprehensive phenotype of patients with androgen insensitivity (based on confirmed androgen receptor (AR) gene difference), including hormonal, metabolic, immunologic, and cardiovascular aspects of this condition, as well as effects on quality of life and tumor formation risk and evaluation. (nih.gov)
  • This will be done to understand how AIS affects individuals since the androgen receptor is found in many tissues in the body including skin, bone, muscle, and the neurologic, immune and metabolic systems. (nih.gov)
  • A trial of androgen pharmacotherapy may help improve virilization in infancy. (nih.gov)
  • Complete androgen insensitivity syndrome affects 2 to 5 per 100,000 people who are genetically male. (medlineplus.gov)
  • The syndrome is passed down genetically ( X-linked recessive inheritance ). (medlineplus.gov)
  • Complete androgen insensitivity syndrome occurs when the body cannot use androgens at all. (medlineplus.gov)
  • People with complete androgen insensitivity syndrome also have sparse or absent hair in the pubic area and under the arms. (medlineplus.gov)
  • Partial androgen insensitivity is thought to be at least as common as complete androgen insensitivity. (medlineplus.gov)
  • This is a case report of complete androgen insensitivity syndrome and literature review of preoperative diagnostic methods. (bvsalud.org)
  • We present a 3 years and 6 months old child with female phenotype, born in São Paulo, Brazil which was diagnosed intraoperatively with complete androgen insensitivity syndrome, during inguinal hernia repair and present potential diagnostic alternatives that we consider viable options in order to avoid this kind of surprise during surgery. (bvsalud.org)
  • Complete VB agenesis by the selective budding inhibitor 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) required high androgen signaling. (nih.gov)
  • The concept Fetal Alcohol Syndrome (FAS) refers to a set of birth defects that occur in children born to mothers who abused alcohol during pregnancy. (asu.edu)
  • These findings suggest that the genital abnormalities in the affected brothers result from defects in the androgen receptor. (bmj.com)
  • Needless to say, rare syndromes and deficiencies are not the same as someone deciding they're transgender and should in no way diminish the norm of biological manhood. (newsbusters.org)
  • Depending on the level of androgen insensitivity, an affected person's sex characteristics can vary from mostly female to mostly male. (medlineplus.gov)
  • If testosterone is absent in the second step or if the function of the androgen receptor (AR) is abnormal, female sexual characteristics develop [ 2 ]. (e-apem.org)
  • External characteristics of intersex may include underdeveloped genitals, which is a symptom of partial androgen insensitivity syndrome . (kcbx.org)
  • The hormonal management of patients with androgen insensitivity can be challenging. (bvsalud.org)
  • Tfm male mice are widely considered completely androgen insensitive yet their UGSs were 5alpha-dihydrotestosterone (DHT)- responsive. (nih.gov)
  • Perineal hypospadias often occurs in association with other genital abnormalities, such as bilateral cryptorchidism and micropenis, and may be the result of partial androgen insensitivity. (bmj.com)
  • The ventral urogenital sinus (UGS) of control male mice has two rows of 3-4 prostatic buds at birth, but how androgens regulate ventral bud (VB) number and patterning is unclear. (nih.gov)
  • UGSs from Tfm male and antiandrogen (flutamide)-exposed mice had small VBs, suggesting that initiation of some VBs is androgen independent. (nih.gov)
  • VBs (6-8) were generally distributed bimodally on the left-right axis at both minimal and normal male androgen signaling. (nih.gov)
  • An anti-androgen will also result in reduced activity or function of the accessory male sex organs , and hyposexuality (diminished sexual desire or libido). (susans.org)
  • The 46,XY genetic male totally lacks androgen responsiveness in the target organs thus exhibits a female phenotype. (nih.gov)
  • Androgen insensitivity syndrome (AIS) is a rare genetic disease caused by various abnormalities in the androgen receptor (AR). (e-apem.org)
  • The first pair of brothers had partial androgen insensitivity with perineal hypospadias, bilateral cryptorchidism, and micropenis, while the other boys had isolated perineal hypospadias. (bmj.com)
  • Here we present a case of a 25year old female with partial androgen sensitivity syndrome with primary amenorrhoea with normal secondary sexual characters with clitoromegaly and testis in labia majora. (ejournal-tnmgrmu.ac.in)
  • Androgens play a role in female pattern hair loss, but other factors that are not yet known are also involved. (nih.gov)
  • They can be found in several female contraceptive pills, specifically to reduce hirstuitism, which may result from medical conditions such as hormone imbalance or Polycystic Ovary syndrome. (susans.org)
  • Berg JS, French SL, McCullough LB, Kleppe S, Sutton VR, Gunn SK, Karaviti LP " Ethical and legal implications of genetic testing in androgen insensitivity syndrome. . (bcm.edu)
  • The objective of this natural history study is to describe and define a comprehensive phenotype (characteristic) of patients with AIS based on confirmed androgen receptor (AR) gene difference. (nih.gov)
  • With a natural history study in individuals with AIS, data and tests may provide information regarding health risks and optimal management of individuals with AIS as well as elucidate the role of the androgen receptor in human health. (nih.gov)
  • With a natural history study in individuals with AIS, data and tests may provide information regarding health risks (including the risks and benefits of gonadectomy and best ways to monitor for tumor) and optimal management of individuals with AIS as well as elucidate the role of the androgen receptor in human health. (nih.gov)
  • Dr. Mann also brings up another unique condition called androgen insensitivity syndrome. (newsbusters.org)
  • Invasive Ductal Carcinoma in a 46,XY Partial Androgen Insensitivity Syndrome Patient on Hormone Therapy. (bvsalud.org)
  • 27. Acute Lymphoblastic Leukemia Developing in a Patient with 46, XY Pure Gonadal Dysgenesis (Swyer Syndrome) with Malignant Gonadal Germ Cell Tumor: A Case Report and Literature Review. (nih.gov)
  • The principle androgens in humans are testosterone and its more potent metabolite, dihydrotestosterone (DHT). (cancertherapyadvisor.com)
  • Androgen insensitivity syndrome is caused by genetic changes in the AR gene and is inherited in an X-linked recessive pattern. (nih.gov)
  • In women, this form of hair loss is associated with an increased risk of polycystic ovary syndrome (PCOS). (nih.gov)
  • Researchers continue to investigate the connection between androgenetic alopecia and other medical conditions, such as coronary heart disease and prostate cancer in men and polycystic ovary syndrome in women. (nih.gov)
  • These results suggest that VB number and distribution respond biphasically as androgen signaling increases from minimal, and that androgens regulate bud specification. (nih.gov)
  • When the tissues do not respond normally to androgens, this is known as Androgen Insensitivity Syndrome . (susans.org)
  • 38. Video-assisted gonadectomy in children with Ullrich Turner syndrome or 46,XY gonadal dysgenesis. (nih.gov)
  • Girgis R, Abrams SA, Castracane VD, Gunn SK, Ellis KJ, Copeland KC " Ethnic differences in androgens, IGF-I and body fat in healthy prepubertal girls. . (bcm.edu)