• Androgen insensitivity syndrome (AIS) is when a person who is genetically male (who has one X and one Y chromosome) is resistant to hormones that produce a male appearance (called androgens). (medlineplus.gov)
  • Androgen insensitivity syndrome is one of the conditions that are described as differences of sex development (DSD). (medlineplus.gov)
  • Androgen insensitivity syndrome (AIS) is a difference in sex development involving hormonal resistance due to androgen receptor dysfunction. (wikipedia.org)
  • The insensitivity to androgens is therefore clinically significant only when it occurs in genetic males, (i.e. individuals with a Y-chromosome, or more specifically, an SRY gene). (wikipedia.org)
  • mild androgen insensitivity syndrome (MAIS) is indicated when the external genitalia are those of a typical male, and partial androgen insensitivity syndrome (PAIS) is indicated when the external genitalia are partially, but not fully, masculinized. (wikipedia.org)
  • Androgen insensitivity syndrome is the largest single entity that leads to 46,XY undermasculinized genitalia. (wikipedia.org)
  • Androgen insensitivity syndrome (AIS), formerly known as testicular feminization, is an X-linked recessive condition resulting in a failure of normal masculinization of the external genitalia in chromosomally male individuals. (medscape.com)
  • This failure of virilization can be either complete androgen insensitivity syndrome (CAIS) or partial androgen insensitivity syndrome (PAIS), depending on the amount of residual receptor function. (medscape.com)
  • Both individuals with partial androgen insensitivity syndrome and individuals with complete androgen insensitivity syndrome have 46,XY karyotypes. (medscape.com)
  • Individuals with complete androgen insensitivity syndrome have female external genitalia with normal labia, clitoris, and vaginal introitus. (medscape.com)
  • It detects upwards of 95% of the mutations for complete androgen insensitivity syndrome and partial androgen insensitivity syndrome. (medscape.com)
  • Medical care for a patient with androgen insensitivity syndrome (AIS) has 2 aspects: hormone replacement therapy (HRT) and psychological support. (medscape.com)
  • The basic etiology of androgen insensitivity syndrome is a loss-of-function mutation in the androgen receptor ( AR ) gene. (medscape.com)
  • While the genotypes causing complete androgen insensitivity syndrome are fairly consistent in phenotypic presentation, the genotype/phenotype relationships for the mutations causing partial androgen insensitivity syndrome remain unclear. (medscape.com)
  • In Kennedy disease (spinal and bulbar muscular atrophy [SBMA]), a motor neuron disease caused by a CAG expansion in the AR gene, androgen insensitivity appears later in life, with postpubertal gynecomastia being the most common sign. (medscape.com)
  • 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. (bmj.com)
  • We have recently reported the results of these investigations in cases of confirmed androgen insensitivity syndrome (AIS). (bmj.com)
  • Activated, but not phosphorylated, by HIPK3 and ZIPK/DAPK3.Defects in AR are the cause of androgen insensitivity syndrome (AIS).Affected males have female external genitalia, female breast development, blind vagina, absent uterus and female adnexa, and abdominal or inguinal testes, despite a normal 46,XY karyotype.Defects in AR are the cause of spinal and bulbar muscular atrophy X-linked type 1 (SMAX1). (ptglab.com)
  • This treatment can reduce primary and metastatic lesions probably by inducing apoptosis of tumor cells when they express the wild-type receptor.Defects in AR are the cause of androgen insensitivity syndrome partial (PAIS). (ptglab.com)
  • 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)
  • To report a case of Complete Androgen Insensitivity Syndrome (CAIS). (bvsalud.org)
  • The main clinical presentation of complete androgen insensitivity syndrome (CAIS) in childhood is the presence of bilateral inguinal hernia. (bvsalud.org)
  • Androgen insensitivity syndrome (AIS) is caused by various genetic defects on the X chromosome which make the body unable to respond to the hormones responsible for the male appearance. (health32.com)
  • Complete androgen insensitivity prevents the development of the penis and other male body parts. (health32.com)
  • Androgen insensitivity syndrome is caused by a mutation in the androgen receptor, and it affects 1 in 100,000 chromosomal males. (medquizzes.net)
  • The phenotypic presentation can vary from complete androgen insensitivity (female external features) to partial insensitivity causing ambiguous or normal male features and infertility. (medquizzes.net)
  • 1 This newer classification incorporates a wide range of conditions, including congenital adrenal hyperplasia ( CAH ), ovotesticular DSD , androgen insensitivity syndrome ( AIS ). (pediatricurologybook.com)
  • 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)
  • METHODS A retrospective study of a register of cases of male undermasculinisation (20 with abnormal testes, eight with 5α-reductase deficiency, three with testosterone biosynthetic defects, seven with Drash syndrome, and 210 undiagnosed). (bmj.com)
  • Also included in the broad category of incomplete AIS is infertile male syndrome, which is sometimes due to an androgen receptor disorder. (health32.com)
  • This syndrome typically occurs in the absence of one kidney, urinary tract defects. (resultmed.com)
  • Parmi les nouveau-nés présentant un caryotype anormal ( n = 3), l'un, souffrant de trisomie 18 (47,XX), est décédé à l'âge de trois mois, tandis que les deux autres enfants étaient atteints de différents types de syndrome de Turner en mosaïque. (who.int)
  • Adrenal virilism is a syndrome in which excessive adrenal androgens cause virilization. (msdmanuals.com)
  • 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)
  • Primary cortisol resistance syndrome, due to defects in glucocorticoid receptors and characterized by increase in ACTH, cortisol and cortisol precursors including DOC, can lead to hypertension and hypokalemia. (medscape.com)
  • These mutations can cause a variety of functional defects, ranging from a complete loss of receptors on the cell surface because of incomplete protein synthesis to alterations in substrate binding affinity. (medscape.com)
  • Loss of AR function means that, despite normal levels of androgen synthesis, the typical postreceptor events that mediate the effects of hormones on tissues do not occur. (medscape.com)
  • Introduction: Congenital Adrenal Hyperplasia (CAH) results from enzymatic defects caused by autossomal recessive hereditary mutations characterized by deficient cortisol synthesis and, in most cases, increased androgen synthesis. (endocrine-abstracts.org)
  • Although many affected individuals can tolerate sun exposure while taking beta-carotene, it has no effect on the basic metabolic defect in porphyrin-heme synthesis. (medquizzes.net)
  • Defects in thyroglobulin synthesis (mutations in TG). (torontocentreforneonatalhealth.com)
  • 46,XY DSD include defects in androgen synthesis or action or complete (CGD)/partial (PGD) gonadal dysgenesis. (eurospe.org)
  • CAH is the most frequent cause of androgen excess and ambiguous genitalia in the female newborn and the various forms of CAH are due to defects in the biosynthesis of cortisol, with the subsequent excessive ACTH production leading to an accumulation of adrenal androgens and steroid precursors. (health.am)
  • no method is currently available to correct the malfunctioning androgen receptor proteins produced by AR gene mutations. (wikipedia.org)
  • It is a rare recessive genetic disorder linked to the X chromosome that results in different mutations in the androgen receptor. (bvsalud.org)
  • CAIS is caused by several mutations in the androgen receptor (AR) that result in a suppressed response of target cells to testosterone and dihydrotestosterone (DHT) 6 . (bvsalud.org)
  • Iodotyrosine deiodinase defect (mutations in IYD). (torontocentreforneonatalhealth.com)
  • Thyroid hormone resistance owing to thyroid receptor β defect (THRB mutations). (torontocentreforneonatalhealth.com)
  • Sonic Hedgehog mutations are not a common cause of congenital hypopituitarism in the absence of complex midline cerebral defects. (cdc.gov)
  • You may also have blood tests to check for increased androgen levels. (massgeneral.org)
  • Untreated maternal virilizing CAH is another potential cause, though androgen-secreting adrenal tumor in the mother is rare. (health.am)
  • Excessive androgen production can be traced back to the mother, placenta or the fetal adrenal gland. (health.am)
  • Adrenal androgens undergo peripheral conversion to testosterone and dihydrotestosterone, and steroid precursors produce specific findings depending upon the exact enzyme deficiency. (health.am)
  • Androgen-producing tumours of either adrenal or ovarian origin may also lead to masculinization of a female fetus . (britannica.com)
  • Excessive amounts of adrenal androgens must be produced to overcome the decrease in cortisol production. (britannica.com)
  • In 46,XX karyotype patients ( n = 14), congenital adrenal hyperplasia and general malformation disorder were the most common causes of genital ambiguity, while in 46,XY karyotype patients ( n = 18), testosterone pathway biosynthetic defect was the most common cause even in conjunction with a generalized malformation disorder. (who.int)
  • Malignant adrenal tumors may secrete excess androgens, estrogens , cortisol , mineralocorticoids (or combinations of the four). (msdmanuals.com)
  • Adrenal tumors that secrete androgens cause virilization. (msdmanuals.com)
  • The defect is only partial in delayed virilizing adrenal hyperplasia, so clinical disease may not develop until adulthood. (msdmanuals.com)
  • In adult males, the excess adrenal androgens may suppress gonadal function and cause infertility. (msdmanuals.com)
  • These precursors can be converted to adrenal androgen leading to virilization in females and premature adrenarche in both genders. (medscape.com)
  • Any maternal source of elevated androgens can induce virilization in the female fetus. (health.am)
  • A discrepancy between marked virilization in the mother and a minimal androgen effect in female offspring indicates placental aromatase activity, which converts androgens to estrogens, or androgen metabolism, which thus becomes less active. (health.am)
  • A defect in the placental conversion of androgens to estrogens causes virilization in female offspring. (health.am)
  • The enzymatic defects causing female virilization involve 3β-hydroxysteroid dehydrogenase Δ5-Δ4 isomerase (3β-HSD), P 450 C21 hydroxylase (21-OH), and P 450 C11 hydroxylase (11-OH). (health.am)
  • Mutation analysis of the androgen receptor gene is now commercially available. (medscape.com)
  • 4 However, most cases of male undermasculinisation do not have molecular abnormalities in the androgen receptor gene or abnormalities in androgen receptor binding, and therefore remain undiagnosed. (bmj.com)
  • Androgen receptor gene CAG repeat polymorphism independently influences recovery of male sexual function after testosterone replacement therapy in postsurgical hypogonadotropic hypogonadism. (cdc.gov)
  • Diagnostic schemata recommend karyotype, pelvic ultrasound scan, testosterone, and dihydrotestosterone (DHT) concentrations with human chorionic gonadotropin (hCG) stimulation, gonadotrophin concentrations, and androgen receptor binding in genital skin fibroblasts. (bmj.com)
  • Androgen receptor (AR) also konwn as Dihydrotestosterone receptor (DHTR), Nuclear receptor subfamily 3 group C member 4 (NR3C4).It is one of steriod hormoen receptors, which are ligand-activated transcription factors that regulate eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. (ptglab.com)
  • 22 The underlying mechanism is believed to be a higher concentration of dihydrotestosterone (DHT) to androgen-sensitive hair follicles, causing thinning of the dermal papillae and shortening of the anagen phase. (jcadonline.com)
  • Transcript levels of the androgen receptor (AR)-regulated gene Rhox5 were decreased at the end of the culture period, suggesting that testosterone production by Leydig cells and/or AR transcriptional activity was impaired in organotypic cultures ( 8 ). (elifesciences.org)
  • The frequent use of the estrogen and androgen in drugs or their penetration into bodies through food also cause the prevention of the spermatic fluid production or the decline in the activeness of gonadotropins resulting in the shrinking of the body's testosterone hormone. (yementimes.com)
  • It is unequivocally accepted in clinical practice that any male with inadequately low testosterone production for his age will require androgen therapy. (naturemedclinic.com)
  • Abdominal testis translocation is dependent on INSL3 and only partially on testosterone, although the inguinoscrotal migration is androgen reliant (Amann & Veeramachaneni 2007). (scielo.org.za)
  • Each xenobiotic agent induced the appropriate CYP: PB treatment there is no data that androgen adjuvants (testosterone, dehydroepiandrostereone) and the androgen-modulating agent (letrozole) in poor responders undergoing IVF treatment. (sideload.com)
  • Recognised causes of male undermasculinisation include gonadotrophin deficiency or resistance as well as a defect in androgen biosynthesis or action. (bmj.com)
  • In addition to fetal defects, these include anatomically polycystic ovaries, obesity, placental thrombosis, endometrial defects, and hormonal abnormalities such as excess androgen secretion or insulin resistance. (hormones.gr)
  • Female pseudohermaphroditism due to placental aromatase deficiency, which has recently been reported by several investigators, illustrates the critical role of placental aromatization in protecting the fetus from excess androgen exposure. (health.am)
  • Management of excessive androgens in the female fetus is somewhat difficult and will differ, for example, if there is a family history of female pseudohermaphroditism or if androgen excess is suspected from ultrasonography. (health.am)
  • AIS is caused by genetic defects on the X chromosome. (medlineplus.gov)
  • Genetic defects sometimes result in changes in the chromosomes. (encyclopedia.com)
  • Male pseudohermaphroditism is rare and almost always results from autosomal recessive genetic defects (defects that must be inherited from both parents in order to be expressed). (britannica.com)
  • Several specific defects lead to feminization in genetic males. (britannica.com)
  • Researchers at Baylor College say they've found the genetic reason for two common male reproductive tract birth defects in a genome-wide study. (medicaldaily.com)
  • Defect enzymes that produce estrogen and cholesterol, cortisol, may lead to the fact that estrogen and FSH levels will not be high due to the estrogen negative feedback on the pituitary. (resultmed.com)
  • they affect hormone levels and have been linked to birth defects and cancer. (courthousenews.com)
  • Since large amounts of androgen, a hormone known to stimulate male sex organs, is produced, there might be defects in sexual development. (home-remedies-for-you.com)
  • This disorder arises from an inherited defect in one of the enzymes needed for the production of cortisol , a hormone that plays a major role in the physiological response to stress . (britannica.com)
  • Androgens regulate the development of the embryo, determining whether it is a male or a female (male in the presence of androgens and female in the absence of androgens). (encyclopedia.com)
  • In a study published in the Journal of Cachexia Sarcopenia and Muscle , the research group coordinated by Dr. Daniel Metzger and Dr. Delphine Duteil characterized the effect of the absence of the androgen receptor in skeletal striated muscle fibers, leading to the development of muscle weakness and type 2 diabetes, and identified the underlying molecular mechanisms. (igbmc.fr)
  • In a previous study, scientists from Dr. Daniel Metzger's team at the Institute of Genetics and Molecular and Cellular Biology (IGBMC) established that the structure and strength of limb muscles are altered in the absence of the androgen receptor. (igbmc.fr)
  • If during the first trimester of pregnancy a woman carrying a female fetus is given an androgen , an anabolic steroid , or a progestin (a substance with effects similar to those of progesterone ), her fetus may be masculinized. (britannica.com)
  • The human androgen receptor (AR) is a protein encoded by a gene located on the proximal long arm of the X chromosome (locus Xq11-Xq12). (wikipedia.org)
  • A recessive mutation that causes a congenital craniofacial defect in Burmese cats has been identified by the Lyons Feline Genetics Research Laboratory at UC Davis.The mutation affects function of a gene significant for facial development. (laboklin.co.uk)
  • Heterozygous defects in PAX6 gene and congenital hypopituitarism. (cdc.gov)
  • Some, but not all, are due to inadequate androgen stimulation. (encyclopedia.com)
  • Androgen stimulation in the male leads to the development of secondary sex characteristics and may stimulate testicular descent when no anatomical impediment to descent is present. (drugs.com)
  • Cats with one copy of the mutation will not have craniofacial defect but may produce a shortened facial structure (brachycephaly). (laboklin.co.uk)
  • Its mutation in skeletal muscle myofibers induces metabolic disorders leading to type 2 diabetes, and structural defects leading to muscle weakness. (igbmc.fr)
  • It was reported that K630A mutation in androgen receptor has been shown to cause a loss of acetylation site and has been implicated in Kennedy's disease, an inherited neurodegenerative disorder [8]. (deepdyve.com)
  • Clinical phenotypes in these individuals range from a typical male habitus with mild spermatogenic defect or reduced secondary terminal hair, to a full female habitus, despite the presence of a Y-chromosome. (wikipedia.org)
  • Other blood tests may be done to help tell the difference between AIS and androgen deficiency. (medlineplus.gov)
  • In both cases, investigation of abnormal androgen production by the mother must be performed immediately after delivery. (health.am)
  • This led to the identification of patients with Fanconi anemia and aplastic anemia without birth defects and the diagnosis of Fanconi anemia in patients without aplastic anemia but with abnormal physical findings. (medscape.com)
  • While chromosomal abnormalities are believed to frequently be the cause of spontaneous abortion in normal women, little is known about the role of fetal chromosomal defects specifically in women with PCOS. (hormones.gr)
  • The alcohol-induced defects include pre- and post-natal growth deficiencies, minor facial abnormalities, and damage to the developing central nervous system (CNS). (asu.edu)
  • 2- Hypongonadism : This occurs as a result of weakening of one of the testicles or both in producing semen and androgen. (yementimes.com)
  • 3- The existence of anatomic defects on the external layer which produces semen inside the testicles. (yementimes.com)
  • Because the androgen receptor is X-linked, it only affects males. (medquizzes.net)
  • Longer expansions result in earlier onset and more severe clinical manifestations of the disease.Defects in AR may play a role in metastatic prostate cancer. (ptglab.com)
  • Teratogens are substances that may produce physical or functional defects in the human embryo or fetus after the pregnant woman is exposed to the substance. (asu.edu)
  • Prenatal diagnosis of these defects is possible in high-risk families and prenatal treatment can be offered to the mother of a 21-OH-deficient girl for future pregnancies. (health.am)
  • Therefore, the presence of anatomically polycystic ovaries has been postulated to contribute to miscarriage in PCOS, either through ovarian androgen hypersecretion or LH hypersecretion. (hormones.gr)
  • In experiments, this molecule was able to regulate the androgen receptor, which is important to the growth of both cancerous and normal prostate cells. (lu.se)
  • Vinclozolin (Vin CAS 50471-44-8), a dicarboximide fungicide , has been reported be an antagonist of androgen receptor binding in rats, effects that could result in decreased fertility, defects in reproductive organs or cancer. (cdc.gov)
  • The androgen receptor is a protein that has an important role in the male reproductive system. (lu.se)
  • Two copies of the mutant allele can cause severe craniofacial defect that is severe enough to be compatible with life. (laboklin.co.uk)
  • Defects in the receptor can, in their most severe form, cause those with male chromosomes to develop into girls in the womb, while milder defects can lead to disease and infertility. (lu.se)
  • The mutated receptor stimulates prostate growth and metastases development despite of androgen ablation. (ptglab.com)
  • The ability of this microRNA to inhibit the androgen receptor offers potential for further research on the possibilities of using miR-145 for treatment of patients with prostate cancer so that they do not develop aggressive tumours", says Olivia Larne. (lu.se)
  • Animal studies indicate that exposure to phthalates in utero can cause birth defects to genitalia. (courthousenews.com)
  • Approximately 25% of known patients with Fanconi anemia do not have major birth defects. (medscape.com)
  • Birth defects (present in up to 75% of Fanconi anemia patients, depending on the level of scrutiny) associated with Fanconi anemia are demonstrated in the images below. (medscape.com)
  • Despite reports by Vietnamese citizens and Vietnam War veterans of increased rates of stillbirths and birth defects in their children, studies in the 1980s showed conflicting evidence for an association between the two. (asu.edu)
  • In 1996, the US National Academy of Sciences reported that there was evidence that suggested dioxin and Agent Orange exposure caused spina bifida, a birth defect in which the spinal cord develops improperly. (asu.edu)
  • 24,25 Current well-established treatment modalities focus on reducing the androgenic effects on hair follicles (5a-reductase inhibitors), stimulating hair growth (minoxidil), or transferring androgen-independent hair to the affected scalp (hair transplantation). (jcadonline.com)
  • Some studies suggest longer polyglycine tract lengths are also associated with genital masculinization defects in men. (wikipedia.org)
  • Diseases associated with defects in adipocyte homeostasis, such as lipodystrophy and focal dermal hypoplasia, lead to alopecia. (jcadonline.com)
  • The molecular genetics of these defects have been extensively studied. (health.am)
  • In this article, scientists show that the expression of the androgen receptor increases significantly during puberty. (igbmc.fr)
  • At puberty, the expression of the androgen receptor is induced in muscles. (igbmc.fr)