• Of the circulating androgens, only testosterone and DHT are able to activate androgen receptors. (medscape.com)
  • Their absence or the absence of androgen receptors results in a female phenotype, despite the presence of a 46 XY karyotype (eg, androgen insensitivity syndrome). (medscape.com)
  • These experiments suggest that effects of androgens on developing B cells are mediated through androgen receptors in bone marrow stromal cells. (jci.org)
  • Androgen receptor (AR) is one of the predominant nuclear hormone receptors in invasive breast cancer and can be explored as a biomarker of response for targeted anti-androgen therapy, especially in the setting of triple negative breast cancer (TNBC). (ecancer.org)
  • Partial androgen insensitivity syndrome (PAIS) is a heterogeneous group of intersex disorders characterized by a typical perineoscrotal hypospadias/micropenis phenotype, and a normal androgen-producing testis. (nih.gov)
  • 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)
  • It detects upwards of 95% of the mutations for complete androgen insensitivity syndrome and partial androgen insensitivity syndrome. (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)
  • Complete androgen insensitivity syndrome (CAIS) is an AIS condition that results in the complete inability of the cell to respond to androgens. (wikipedia.org)
  • As such, the insensitivity to androgens is only clinically significant when it occurs in individuals who are exposed to significant amounts of testosterone at some point in their lives. (wikipedia.org)
  • CAIS is one of the three categories of androgen insensitivity syndrome (AIS) since AIS is differentiated according to the degree of genital masculinization: complete androgen insensitivity syndrome (CAIS) when the external genitalia is that of a typical female, mild androgen insensitivity syndrome (MAIS) when the external genitalia is that of a typical male, and partial androgen insensitivity syndrome (PAIS) when the external genitalia is partially, but not fully masculinized. (wikipedia.org)
  • Androgen insensitivity syndrome is the largest single entity that leads to 46, XY undermasculinization. (wikipedia.org)
  • Individuals with complete androgen insensitivity syndrome (grades 6 and 7 on the Quigley scale) are born phenotypically female, without any signs of genital masculinization, despite having a 46,XY karyotype. (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)
  • Individuals with complete androgen insensitivity syndrome have female external genitalia with normal labia, clitoris, and vaginal introitus. (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)
  • 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)
  • The slow progression, partial androgen insensitivity, electrophysiological evidence of sensory neuronopathy, and relatively spared central nervous system pathways help differentiate it from amyotrophic lateral sclerosis. (kennedysdisease.org)
  • Androgen excess can affect different tissues and organs, causing variable clinical features such as acne, hirsutism, virilization, and reproductive dysfunction. (medscape.com)
  • Androgens induce virilization and are responsible for forming the male external genitalia in the fetus. (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)
  • When a history of rapid severe hirsutism or other signs of virilization are obtained, an androgen-secreting tumor is a possibility. (medscape.com)
  • However, neither the global ARKO nor orchidectomy models discriminate between direct and indirect effects of androgens. (endocrine-abstracts.org)
  • Pretreatment with risedronate inhibited bone resorption and hypercalciuria but confirmed the upregulation of renal Ca2+ and PO43− transporters, suggesting bone-independent renal effects of androgens. (endocrine-abstracts.org)
  • instead, it is aromatized into estrogen, which effectively feminizes the body and accounts for the normal female phenotype observed in CAIS. (wikipedia.org)
  • Immature B cells from normal mouse bone marrow were not responsive to the suppressive effect of androgens unless they were cocultured with marrow stromal cells or with supernatants from androgen-treated stromal cells, suggesting that the androgen effects are exerted through marrow stromal elements by production of a diffusible mediator. (jci.org)
  • We aimed to quantitatively assess the external genital phenotype in relation to AR genotype and sex of rearing and identify criteria that differentiate mutation positive (ARmt) from mutation negative (ARwt) PAIS patients. (nih.gov)
  • Mutation analysis of the androgen receptor gene is now commercially available. (medscape.com)
  • There is a highly specific genotype-phenotype correlation between the LMNA R527H mutation and MAD. (bmj.com)
  • The particular phenotype that results depends on the sex of the individual, the location of the block in synthesis, and the severity of the genetic deletion or mutation. (medscape.com)
  • Cultural issues, other modifying genes and response to androgen trials might be influencing factors. (nih.gov)
  • Thyroid dysfunction, congenital adrenal hyperplasia, hyperprolactinaemia, androgen-secreting tumours and Cushing's syndrome must to be excluded before making a diagnosis of PCOS (1). (gpnotebook.com)
  • Absent or irregular menstrual periods in the setting of normal or high estradiol levels indicate possible polycystic ovarian syndrome, androgen-producing tumors, or estrogen-producing tumors. (medscape.com)
  • Androgen receptor gene sequencing was performed in 111 patients. (nih.gov)
  • during the embryonic stage of development, testes form in an androgen-independent process that occurs due to the influence of the SRY gene on the Y chromosome. (wikipedia.org)
  • Small Indels in the Androgen Receptor Gene: Phenotype Implications and Mechanisms of Mutagenesis. (medscape.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)
  • Androgen-dependent nuclear accumulation of the polyglutamine-expanded AR is an essential step in the pathogenesis, providing therapeutic opportunities via hormonal manipulation and gene silencing with antisense oligonucleotides. (kennedysdisease.org)
  • Androgens are produced primarily by the adrenal glands and the ovaries. (medscape.com)
  • Androgen secretion pathway in adrenal glands and ovaries. (medscape.com)
  • DHEAS and 11-androstenedione are not secreted by the ovaries and, therefore, are used as markers of adrenal androgen secretion. (medscape.com)
  • Adrenal androgen secretion is dependent on adrenocorticotropic hormone (ACTH) secreted by the anterior pituitary. (medscape.com)
  • Both prolactin and estrogen can affect adrenal androgen production. (medscape.com)
  • Adrenal androgens increase in response to ACTH stimulation, while androgens do not influence the ACTH secretion. (medscape.com)
  • 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)
  • 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)
  • Adrenal androgens undergo peripheral conversion to testosterone and dihydrotestosterone, and steroid precursors produce specific findings depending upon the exact enzyme deficiency. (health.am)
  • Because the development of pubic hair depends on adrenal androgens, early development points toward CAH. (medscape.com)
  • Endogenous androgens originate from either the adrenal cortex or the ovary. (medscape.com)
  • Immature sperm cells in the testes do not mature past an early stage, as sensitivity to androgens is required in order for spermatogenesis to complete. (wikipedia.org)
  • The androgen receptor (AR) is a ligand-inducible steroid hormone receptor that mediates androgen action, determining male sexual phenotypes and promoting spermatogenesis. (iucr.org)
  • Testosterone is used as a marker of ovarian androgen secretion. (medscape.com)
  • Li AJ, Scoles DR, Armstrong KU, Karlan BY: Androgen receptor cytosine-adenine-guanine repeat polymorphisms modulate EGFR signaling in epithelial ovarian carcinomas. (cedars-sinai.org)
  • Li AJ, Lerner DL, Gapuzan ME, Karlan BY: AIB1 polymorphisms predict aggressive ovarian cancer phenotype. (cedars-sinai.org)
  • Li AJ, Karlan BY: Androgen mediation of thrombocytosis in epithelial ovarian cancer biology. (cedars-sinai.org)
  • Various mutations in the androgen receptor (AR) are known to cause PAIS. (nih.gov)
  • The predomination of an androgen-independent phenotype canoccur approximately 1 to 2 years afterthe initiation of androgen deprivation.Multiple strategies have been usedto induce serum levels of testosteronesimilar to those following castration.Traditional treatment options for androgenblockade include orchiectomy,luteinizing hormone-releasing hormone(LHRH) agonists and antagonists,nonsteroidal antiandrogens, andestrogens. (cancernetwork.com)
  • In addition, the study aims at describing how these characteristics are distributed across PCOS phenotypes and at detecting associations with regional demographic and lifestyle aspects, genetic variants, and epigenetic markers. (bmj.com)
  • And if hyperandrogenism drives the microbial composition of the gut, "it would be interesting to determine if treatment of PCOS with androgen antagonists or oral contraceptives results in recovery of the gut microbiome and improvement of the PCOS metabolic phenotype," they note. (medscape.com)
  • Overall, "our findings suggest that androgens may be an important factor in shaping the gut microbiome, and that changes in the gut microbiome may influence the development and pathology of PCOS. (medscape.com)
  • We employed in vitro cultures and two in vivo models to investigate whether androgens exert these effects directly on marrow lymphoid precursors or whether actions on marrow stromal elements are required. (jci.org)
  • To test this hypothesis, we investigated the effect of the androgen 5α-dihydrotestosterone (DHT) on proliferation, migration, and invasiveness of SDC cells. (elsevierpure.com)
  • 2]The premise of androgen ablationrelies on growth of most prostate carcinomacells being androgen-dependent.The androgen receptor expressedby these cells binds dihydrotestosterone,which is then transported intothe nucleus, leading to a cascade ofevents that induces cellular growth. (cancernetwork.com)
  • This warrants further exploration of the predictive and prognostic significance of its expression amongst TNBC and the potential for targeted therapy, specifically androgen antagonists to improve the outcome of this disease with limited therapeutic options. (ecancer.org)
  • Options forandrogen blockade primarily include orchiectomy, luteinizing hormone-releasing agonists and antagonists, and nonsteroidal antiandrogens.There is some controversy regarding combined androgen blockade,intermittent androgen blockade, and the question of whether earlyandrogen blockade is superior to delayed therapy. (cancernetwork.com)
  • The stromal cell requirement for androgen-mediated effects was confirmed in vivo by experiments using chimeric animals created by bone marrow transplantation in which androgen receptor expression was restricted to either the stromal or lymphoid cells of the bone marrow. (jci.org)
  • Bone cell-specific ARKOs however, have a much less pronounced bone phenotype, suggesting that androgens have an influence on processes in other systems or organs which in turn have an impact on bone metabolism. (endocrine-abstracts.org)
  • GPR75 receptor mediates 20-HETE-signaling and metastatic features of androgen-insensitive prostate cancer cells. (nih.gov)
  • This results in the phenotype of prenatal undervirilization of external genitalia, absence of pubic and axillary hair, lack of acne, and absence of voice changes at puberty. (medscape.com)
  • Utility of polygenic scores for differentiating diabetes diagnosis among patients with atypical phenotypes of diabetes. (medscape.com)
  • They may result in a male or undervirilized male phenotype, ambiguous genitals at birth, and some degree of testicular and spermatogenic failure. (msdmanuals.com)
  • Androgen excess is the most common endocrine disorder in women of reproductive age. (medscape.com)
  • 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)
  • Excess androgens can be from either an exogenous or an endogenous source. (medscape.com)
  • Therefore, the evaluation of androgen excess can focus on disorders of these 2 glands. (medscape.com)
  • albumin has a low affinity for sex hormones, so the albumin-bound androgens are readily available to tissues. (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)
  • To complement the structural information obtained by nuclear magnetic resonance and, especially, measure the rate of information transfer across the androgen receptor we will carry out in a collaborative fashion high precision single molecule Förster resonance energy transfer and fluorescence correlation spectroscopy experiments on AR constructs labelled with fluorescent dyes. (europa.eu)
  • Our findings demonstrate how the local environment directly affects disease risk phenotypes and that genetic variation, including less common variants, can modulate individual's response to environmental challenges. (nature.com)
  • While these findings support the idea that morphological and behavioural traits are linked via phenotypic correlations, they do not support the hypothesis that behavioural differences arise from variation in circulating androgens or the capacity to produce them. (atu.edu)
  • The degree to which these clinical factors are present suggests the level of androgen overproduction and, thus, helps to determine the degree of concern for the presence of an underlying disease. (medscape.com)
  • The clinical phenotype of CAH depends on the nature and severity of the enzyme deficiency. (medscape.com)
  • Background/Aim: Androgens are known to play a critical role in prostate cancer progression, but their effect on malignant phenotypes in salivary gland cancer is unclear. (elsevierpure.com)
  • The androgenicity depends mainly on the unbound fraction due to the high affinity of SHBG to the bound androgens. (medscape.com)
  • Here we demonstrate that an expanded p63+ and CK5+ basal/progenitor cell population, induced by the concomitant activation of oncogenic Kras(G12D) and androgen receptor (AR) signaling, underwent cell differentiation in vivo. (conicet.gov.ar)
  • In this study we investigated the hypothesis that androgens simultaneously relate to morphological and behavioural variation, thereby producing the integrated reproductive phenotypes of male red-backed fairy-wrens, Malurus melanocephalus. (atu.edu)
  • A Prospective Two Year Follow Up of 100 Male Androgen Abusers. (medscape.com)
  • Castration of normal male mice induces expansion of the bone marrow B cell population, an effect that can be reversed by androgen replacement. (jci.org)
  • Global knockout models of the androgen receptor (ARKO) illustrates the many roles androgens and their receptor have in the development of male reproductive organs and the gender differences in many features like the musculoskeletal system. (endocrine-abstracts.org)
  • The androgen-androgen receptor (AR) axis may be involved in malignant phenotypes of salivary duct carcinoma (SDC) cells and therefore may be a new target for SDC treatment. (elsevierpure.com)
  • Androgens only affected B cell development in chimeric mice with androgen-sensitive stromal cells. (jci.org)
  • This approach is dependent on most prostatecancer cells being androgen-dependent, but androgen-independentcells may arise after several years of hormonal therapy. (cancernetwork.com)
  • Conclusion: These results suggest that the androgen-AR axis is involved in SDC malignancy and may be an effective therapeutic target for treatment of human SDC. (elsevierpure.com)
  • However, peripheral tissues such as fat and skin play roles in converting weak androgens into more potent ones. (medscape.com)
  • [ 4 ] This task requires that terminal hair, which depends on androgen, be differentiated from vellus hair, which is androgen-independent. (medscape.com)
  • There are 3 types of hypogonadism: primary, secondary, and a type caused by defective androgen action, primarily due to defective androgen receptor activity. (msdmanuals.com)
  • Although the expression of morphological traits in this species is regulated by androgens and phenotypes differ in baseline androgen levels (red/black breeder. (atu.edu)
  • Observations of territoriality, nestling feeding and extraterritorial forays revealed phenotype-specific patterns of mating and parental effort, yet these were largely related to age and were not correlated with baseline or GnRH-induced androgen levels, or the androgen change between these points. (atu.edu)
  • Areas such as the axilla and pubis are not included because terminal hair grows in these places at normal androgen levels in women. (medscape.com)
  • The total score correlates roughly with the elevation of androgen levels. (medscape.com)
  • This process is triggered by androgens produced by the gonads, which in individuals with the XX karyotype had earlier become ovaries, but in XY individuals typically had become testicles due to the presence of the Y chromosome. (wikipedia.org)