Androgen-Insensitivity Syndrome: 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.Receptors, Androgen: 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.Gonadal Dysgenesis: 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.Androgens: 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.Hypospadias: 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.46, XY Disorders of Sex Development: Congenital conditions in individuals with a male karyotype, in which the development of the gonadal or anatomical sex is atypical.Surgically-Created Structures: Organs or parts of organs surgically formed from nearby tissue to function as substitutes for diseased or surgically removed tissue.Testosterone: 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.Pedigree: 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.Feminization: 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.Point Mutation: 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.Mutation: 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.Disorders of Sex Development: 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.Syndrome: A characteristic symptom complex.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Pain Insensitivity, Congenital: 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)Dihydrotestosterone: A potent androgenic metabolite of TESTOSTERONE. It is produced by the action of the enzyme 3-OXO-5-ALPHA-STEROID 4-DEHYDROGENASE.Gonadal Dysgenesis, 46,XY: 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.Testosterone Congeners: 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.Dictionaries, MedicalVirilism: Development of male secondary SEX CHARACTERISTICS in the FEMALE. It is due to the effects of androgenic metabolites of precursors from endogenous or exogenous sources, such as ADRENAL GLANDS or therapeutic drugs.Newfoundland and Labrador: Province of Canada consisting of the island of Newfoundland and an area of Labrador. Its capital is St. John's.Dissertations, Academic as Topic: Dissertations embodying results of original research and especially substantiating a specific view, e.g., substantial papers written by candidates for an academic degree under the individual direction of a professor or papers written by undergraduates desirous of achieving honors or distinction.Encyclopedias as Topic: Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)Libido: The psychic drive or energy associated with sexual instinct in the broad sense (pleasure and love-object seeking). It may also connote the psychic energy associated with instincts in general that motivate behavior.Androstenedione: A delta-4 C19 steroid that is produced not only in the TESTIS, but also in the OVARY and the ADRENAL CORTEX. Depending on the tissue type, androstenedione can serve as a precursor to TESTOSTERONE as well as ESTRONE and ESTRADIOL.17-alpha-Hydroxyprogesterone: A metabolite of PROGESTERONE with a hydroxyl group at the 17-alpha position. It serves as an intermediate in the biosynthesis of HYDROCORTISONE and GONADAL STEROID HORMONES.Dehydroepiandrosterone: A major C19 steroid produced by the ADRENAL CORTEX. It is also produced in small quantities in the TESTIS and the OVARY. Dehydroepiandrosterone (DHEA) can be converted to TESTOSTERONE; ANDROSTENEDIONE; ESTRADIOL; and ESTRONE. Most of DHEA is sulfated (DEHYDROEPIANDROSTERONE SULFATE) before secretion.Estrone: An aromatized C18 steroid with a 3-hydroxyl group and a 17-ketone, a major mammalian estrogen. It is converted from ANDROSTENEDIONE directly, or from TESTOSTERONE via ESTRADIOL. In humans, it is produced primarily by the cyclic ovaries, PLACENTA, and the ADIPOSE TISSUE of men and postmenopausal women.Theca Cells: The flattened stroma cells forming a sheath or theca outside the basal lamina lining the mature OVARIAN FOLLICLE. Thecal interstitial or stromal cells are steroidogenic, and produce primarily ANDROGENS which serve as precusors of ESTROGENS in the GRANULOSA CELLS.Drama: A composition in prose or verse presenting in dialogue or pantomime a story involving various characters, usually intended to be acted on a stage and to be regarded as a form of entertainment. (From Random House Unabridged Dictionary, 2d ed)Documentaries and Factual FilmsThailand: Formerly known as Siam, this is a Southeast Asian nation at the center of the Indochina peninsula. Bangkok is the capital city.Narration: The act, process, or an instance of narrating, i.e., telling a story. In the context of MEDICINE or ETHICS, narration includes relating the particular and the personal in the life story of an individual.Anthropology, Medical: Field of social science that is concerned with differences between human groups as related to health status and beliefs.Motion Pictures as Topic: The art, technique, or business of producing motion pictures for entertainment, propaganda, or instruction.X Chromosome: The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.Polymorphism, Restriction Fragment Length: Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.Androgen-Binding Protein: Carrier proteins produced in the Sertoli cells of the testis, secreted into the seminiferous tubules, and transported via the efferent ducts to the epididymis. They participate in the transport of androgens. Androgen-binding protein has the same amino acid sequence as SEX HORMONE-BINDING GLOBULIN. They differ by their sites of synthesis and post-translational oligosaccharide modifications.Veronica: A plant genus of the family Plantaginaceae. Members contain bis-sesquiterpene and iridoid glucosides.Gynecology: A medical-surgical specialty concerned with the physiology and disorders primarily of the female genital tract, as well as female endocrinology and reproductive physiology.Bromeliaceae: A plant family of the order Bromeliales, subclass Zingiberidae, class Liliopsida (monocotyledons).Obstetrics: A medical-surgical specialty concerned with management and care of women during pregnancy, parturition, and the puerperium.United StatesIridoids: A type of MONOTERPENES, derived from geraniol. They have the general form of cyclopentanopyran, but in some cases, one of the rings is broken as in the case of secoiridoid. They are different from the similarly named iridals (TRITERPENES).Lobomycosis: A chronic, fungal, subcutaneous infection endemic in rural regions in South America and Central America. The causal organism is Lacazia labol.

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)

Androgen insensitivity syndrome is the most frequent cause of the male pseudohermaphrotidism and the third most frequent cause of primary amenorrhea (approximately 10% of the primary amenorrhea). [2,7] Three different types of AIS have been reported. [2,7] The three AIS phenotype classifications are: complete androgen insensitivity syndrome (CAIS), also called as testicular feminization syndrome, partial androgen insensitivity syndrome (PAIS), and mild androgen insensitivity syndrome (MAIS) also called as under-virilized male syndrome.[8] CAIS, the typical mode of presentation is in an adolescent female who has well developed breasts with a pubertal growth spurt but has no menarche and no or scanty growth of axillary and pubic hair. CAIS may also present in early infancy with the appearance of bilateral labial or inguinal swellings. Bilateral inguinal hernias are rare in girls and it has been estimated that 1-2% of such cases actually have CAIS. On the other hand if a female child shows inguinal ...
... is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have mostly female sex characteristics or signs of both male and female sexual development. There are three types of androgen insensitivity syndrome which vary in severity. There are different management options, so talk to your doctor about the best care plan if you or your child has been diagnosed with androgen insensitivity syndrome. For more information about the different types, please visit: mild androgen insensitivity syndrome; partial androgen insensitivity syndrome; or complete androgen insensitivity syndrome.. Androgen insensitivity syndrome is caused by mutations in the AR gene on the X chromosome. It is inherited (runs in families) as an X-linked recessive trait. ...
Partial androgen insensitivity syndrome (PAIS) is a condition that results in the partial inability of the cell to respond to androgens. The partial unresponsiveness of the cell to the presence of androgenic hormones impairs the masculinization of male genitalia in the developing fetus, as well as the development of male secondary sexual characteristics at puberty, but does not significantly impair female genital or sexual development. As such, the insensitivity to androgens is clinically significant only when it occurs in genetic males (i.e. individuals with a Y chromosome, or more specifically, an SRY gene). PAIS is one of three types of androgen insensitivity syndrome, which is divided into three categories that are differentiated by the degree of genital masculinization: complete androgen insensitivity syndrome (CAIS) is indicated when the external genitalia is that of a normal female, mild androgen insensitivity syndrome (MAIS) is indicated when the external genitalia is that of a normal ...
Mild androgen insensitivity syndrome (MAIS) is a condition that results in a mild impairment of the cells ability to respond to androgens. The degree of impairment is sufficient to impair spermatogenesis and / or the development of secondary sexual characteristics at puberty in males, but does not affect genital differentiation or development. Female genital and sexual development is not significantly affected by the insensitivity to androgens; as such, MAIS is only diagnosed in males. The clinical phenotype associated with MAIS is a normal male habitus with mild spermatogenic defect and / or reduced secondary terminal hair. MAIS is one of three types of androgen insensitivity syndrome, which is divided into three categories that are differentiated by the degree of genital masculinization: complete androgen insensitivity syndrome (CAIS) is indicated when the external genitalia is that of a normal female, mild androgen insensitivity syndrome (MAIS) is indicated when the external genitalia is ...
A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Complete androgen insensitivity syndrome
Androgen insensitivity syndrome in children - What does androgen insensitivity syndrome mean? XY baby is a girl. Without testosterone (t), all babies develop as girls. So a child with 1 x & 1 y chromosome, who would normally be a boy, would develop as a girl if no t was present. In androgen insensitivity syndrome, the t is there, but the cells are insensitive to it, and dont respond, so its as if the t was not there at all. So an xy genetic boy baby is born looking like a normal healthy baby girl.
The partial androgen insensitivity syndrome occurs in 46,XY subjects with phenotypes ranging from perineoscrotal hypospadias with cryptorchidism and micropenis (mild undervirilisation) to clitoromegaly and partial labial fusion (marked undervirilisation). Within an affected family, wide variation in the degree of genital ambiguity between individuals can be seen. Two cousins of a previously reported subject who had severe genital ambiguity and partial androgen insensitivity were investigated. Neither of the cousins had genital abnormalities as marked as the index case, who also had qualitatively abnormal androgen binding and two mutations of the androgen receptor gene. Despite marked phenotypic differences between the index case and his cousins, similar androgen binding and the same androgen receptor mutations were shown in the cousins. Furthermore, one of the androgen receptor gene mutations has been shown in the mother and sister of one of the boys indicating that they are carriers. Thus ...
Androgen insensitivity syndrome (AIS), also known as the testicular feminisation syndrome, results from end-organ resistance to androgens, particularly testosterone. AIS may be complete or incomplete with variable imaging findings. Epidemiology...
A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Partial androgen insensitivity syndrome
Androgen insensitivity syndrome may present with symptoms and signs such as primary amenorrhea, undescended testes in phenotypic female or inguinal mass in infancy. Androgen insensitivity syndrome occurs due to loss of androgen receptor function. Androg
Androgen Insensitivity Syndrome (AIS) is the under-masculinization of individuals with XY sex chromosome karyotypes. A broad clinical spectrum of AIS exists, from mild to partial to complete AIS. Mouse models of complete AIS have been used to study aspects of sexual development, physiology, and behavioural outcomes in the absence of androgenic signaling. There is currently no animal model of partial AIS (PAIS), and the novel mouse strain described in this research satisfies the clinical description of human PAIS patients, appearing outwardly male with additional feminine characteristics. My research on the PAIS mouse model focuses on the anatomical features and endocrinology of this unique strain, and the role of partial androgen signaling as a cause of behavioural anxiety. -- Anatomically, PAIS male mice have similar body size and weight to wild-type (WT) males, but they have an intermediate anal-genital distance that is shorter than WT males, but longer than WT female mice. The PAIS males do ...
Ahmed SF, Cheng A, Dovey L, Hawkins JR, et al. (2000). Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome. J. Clin. Endocrinol. Metab. 85: 658-665. doi:10.1210/jc.85.2.658 Alvarez NR, Lee TM and Solorzano CC (2005). Complete androgen insensitivity syndrome: the role of the endocrine surgeon. Am. Surg. 71: 241-243. PMid:15869141 Avila DM, Wilson CM, Nandi N, Griffin JE, et al. (2002). Immunoreactive AR and genetic alterations in subjects with androgen resistance and undetectable AR levels in genital skin fibroblast ligand-binding assays. J. Clin. Endocrinol. Metab. 87: 182-188. doi:10.1210/jc.87.1.182 Beitel LK, Prior L, Vasiliou DM, Gottlieb B, et al. (1994). Complete androgen insensitivity due to mutations in the probable alpha-helical segments of the DNA-binding domain in the human androgen receptor. Hum. Mol. Genet. 3: 21-27. doi:10.1093/hmg/3.1.21 PMid:8162033 Brinkmann AO (2001). Molecular basis of ...
Androgen Insensitivity Syndrome (Androgen Resistance Syndrome): Symptoms ❗ Workup ❗ Diagnosis ❗ Treatment ❗ Complications ❗ Causes ❗ Epidemiology ❗ Incidence ❗ Prognosis ❗ Check at SYMPTOMA.com
Partial androgen insensitivity syndrome (PAIS) is usually spotted soon after birth because the genitals have an unusual appearance.. Complete androgen insensitivity syndrome (CAIS) isnt usually diagnosed at birth because the genitals look normal for a girl, although the condition may be picked up if the child develops a hernia.. Hernias are where an internal part of the body pushes through a weakness in the surrounding tissue. They can occur in babies with CAIS as a result of the testicles failing to move from the tummy into the scrotum.. When the baby has an operation to repair the hernia, the surgeon may find the testicles inside the hernia or in the tummy, and tests may be arranged to check for CAIS.. If a baby with CAIS doesnt develop a hernia, the condition may go undiagnosed until puberty, when she doesnt start having periods and doesnt develop pubic and underarm hair.. Read more about the symptoms of AIS and types of AIS.. ...
Androgen insensitivity syndrome (AIS), also referred to as androgen resistance syndrome, is a set of disorders of sex development caused by mutations of the gene encoding the androgen receptor. The set of resulting disorders varies according to the structure and sensitivity of the abnormal receptor. Most forms of AIS involve a variable degree of undervirilization and/or infertility in people genetically XY.
In the domestic horse; failure of normal masculinization and virilization due to deficiency of androgenic action leads to a specific disorder of sexual development known as equine androgen insensitivity syndrome (AIS). Affected individuals appear to demonstrate an incoherency between their genetic sex and sexual phenotype; i.e., XY-sex chromosome constitution and female phenotypic appearance. AIS is well documented in humans. Here we report the finding of two novel genetic variants for the AR-gene identified in a Tennessee Walking Horse and a Thoroughbred horse mare; each in individual clinical cases of horse AIS syndrome.
Challenges in clinical and laboratory diagnosis of androgen insensitivity syndrome: a case report. Caroline O.A. Melo, Daniela M. Silva, and Aparecido D. da Cruz. AIS Overview . AIS is an X-linked disorder caused by mutations in the Androgen Receptor gene Slideshow 790405 by machiko
Definition of androgen insensitivity syndrome. Provided by Stedmans medical dictionary and Drugs.com. Includes medical terms and definitions.
Male Pseudohermaphroditism"/ Androgen Insensitivity Syndrome. Children with complete androgen insensitivity syndrome or CAIS are the counterparts to XX CAH children. Their external genitalia take the typical female form, but internally they lack a uterus, and in the place where one would ordinarily find ovaries, they have internal testes. Because their bodies do not respond to testosterone, they grow up to develop very feminine secondary sexual characteristics at puberty, though they will never have menstrual periods. Despite their typically-female appearance, doctors call these individuals "male pseudohermaphrodites" because they have testes. However, in contrast to the treatment of children with CAH, doctors do not go on to say that they CAIS children have "malformed penises" that must be surgically altered to fit their "true sex." Instead of urging genital reconstruction, they tell parents to raise their CAIS children as girls, warn parents that their internal testes could possibly present a ...
Male Pseudohermaphroditism"/ Androgen Insensitivity Syndrome. Children with complete androgen insensitivity syndrome or CAIS are the counterparts to XX CAH children. Their external genitalia take the typical female form, but internally they lack a uterus, and in the place where one would ordinarily find ovaries, they have internal testes. Because their bodies do not respond to testosterone, they grow up to develop very feminine secondary sexual characteristics at puberty, though they will never have menstrual periods. Despite their typically-female appearance, doctors call these individuals "male pseudohermaphrodites" because they have testes. However, in contrast to the treatment of children with CAH, doctors do not go on to say that they CAIS children have "malformed penises" that must be surgically altered to fit their "true sex." Instead of urging genital reconstruction, they tell parents to raise their CAIS children as girls, warn parents that their internal testes could possibly present a ...
Boys with genetically confirmed PAIS are likely to have a poorer clinical outcome than those with XY DSD, with normal T synthesis, and without an identifiable AR mutation. Routine genetic analysis of AR to confirm PAIS informs long-term prognosis and management.
The table of Judy Knights alleged genetic markers is fairly useless without context. I agree that having male haplogroup markers makes no sense as presumably Judy Knight is female and should lack a Y chromosome. There is a condition called CAIS (complete androgen insensitivity syndrome) that results from a defect in the RH gene. A person with CAIS is morphologically female due to the bodys inability to respond to androgens (male hormones), yet that person is actually a male despite having a female form. The catch here is that people with CAIS are infertile and apparently Judy Knight has produced offspring. I am not an expert, but I am not aware of another way to possess a Y chromosome needed to carry the markers cited in the table above and not be morphologically male ...
Cryptorchidism is associated with a several-fold higher risk of GCT. Abdominal cryptorchid testes are at a higher risk than inguinal cryptorchid testes. Orchiopexy should be performed before puberty, if possible. Early orchiopexy reduces the risk of GCT and improves the ability to save the testis. An abdominal cryptorchid testis that cannot be brought into the scrotum should be removed. Approximately 2% of men with GCTs of one testis will develop a primary tumor in the other testis. Testicular feminization syndromes increase the risk of testicular GCT, and Klinefelters syndrome is associated with mediastinal GCT. ...
When a child is born with complete AIS or CAIS, the baby will probably outwardly appear as a completely normal female. She will typically be raised as a woman and may have internal gonads that produce testosterone, which the brain alters to estrogen for her. Since male hormones are responsible for sexual virilization or facial, pubic and underarm hair, a person with CAIS may have little, if any. Some of these women do not even find out about having AIS until in their late teens or after puberty when the diagnosis is established because of a lack of menses or a period. ...
This is the second in a series of posts in which I cover the basics of a particular intersex trait. For the purposes of this blog an intersex trait is defined as a bodily characteristic or set of bodily characteristic that have been determined to not be standard for male or female. This determination can be…
Background on Disease Markers The single nucleotide polymorphism (SNP), 137852571, that is being examined in this experiment is linked with Androgen Insensitivity Syndrome and Kennedy Spinal and Bulbar Muscular Atrophy. Androgen Insensitivity Syndrome occurs when a person who is genetically male (who has one X and one Y chromosome) is resistant to male hormones (called androgens). As a result, the person has some or all of the physical traits of a female, but the genetic makeup of a male. The mutation on the X chromosome makes the body unable to respond to the hormones that produce a male appearance. Kennedy Spinal and Bulbar Muscular Atrophy is a debilitating neurodegenerative disease resulting in muscle cramps and progressive weakness due to degeneration of motor neurons in the brain stem and spinal cord. The SNP is located on the X chromosome and affects the gene AR, the gene is inherited in an x-linked recessive manner therefore only males can be fully affected by the mutation and females ...
This quote was relayed to me by my buddy Vince - FP doc on the subtleties of differentiating between Androgen Insensitivity Syndrome and Klinefelters Syndrome: Well, yeah, it could be Klinefelters - but they usually present with a penis An explanation for non-medical types (because inside jokes are not cool): Androgen Insensitivity Syndrome (AIS) and…
Where does gender come from? I doubt that this is a question many non-trans people would pose. I mean, really, there must be a bunch of people out in the world who have a gender that is congruent with their body and who will more often ask themselves, Where did I leave the remote? than,…
TY - JOUR. T1 - Amino acid substitutions in the hormone-binding domain of the human androgen receptor alter the stability of the hormone receptor complex. AU - Marcelli, Marco. AU - Zoppi, Sonia. AU - Wilson, Carol M.. AU - Griffin III, Jim. AU - McPhaul, Michael J.. PY - 1994/1/1. Y1 - 1994/1/1. N2 - We have investigated the basis of androgen resistance in seven unrelated individuals with complete testicular feminization or Reifenstein syndrome caused by single amino acid substitutions in the hormone-binding domain of the androgen receptor. Monolayer-binding assays of cultured genital skin fibroblasts demonstrated absent ligand binding, qualitative abnormalities of androgen binding, or a decreased amount of qualitatively normal receptor. The consequences of these mutations were examined by introducing the mutations by site-directed mutagenesis into the androgen receptor cDNA sequence and expressing the mutant cDNAs in mammalian cells. The effects of the amino acid substitutions on the binding ...
The November 2006 editorial about treatment of children born with ambiguous genitalia proceeds from a problematic premise, and goes on to imbue questions about elective genitoplasty with a rhetoric of optimism that could be misleading to distraught parents.. Dr. Rivkees argues that surgical gender reversal no longer occurs because 46,XX infants with CAH are typically assigned as female regardless of virilization, and 46,XY infants with testes and microphallus are typically assigned as male. However, gender identity development in children born with atypical genitalia is poorly understood1. It is certain that neither chromosomes nor gonads decisively determine gender. Patients with complete or partial androgen insensitivity syndrome (AIS), for example, commonly develop a female gender identity; but not always2. Parents who are considering irreversibly altering their childs genitals need to understand this uncertainty in order to make an informed decision. Whether or not gender assignment ...
After reading the Daily Telegraph of London, I read some of the 299 comments and per usual everybody has an opinion about something they know nothing about. All speculative! As a Urologist, who lectures on this very subject to medical doctors, let me tell you what I think I know from reading the AP from Pretoria, SA. Caster Semenya has a probable genetic Disorder of Sexual Development known as Partial Androgen Insensitivity Syndrome, probably Grade 5 or 6, where the external genitalia are female-like and the internal genitalia are vestigial testes, which produce Testosterone and Estrogen. I say probable because we cannot know if she has any ovarian tissue mixed with the testis tissue until these vestigial organs are examined under the microscope by a pathologist. This will probably never happen, unless it is presented to her as a condition for receiving female hormones. At this moment everyone is assuming she is an XY woman. Now somebody said she had three times the normal female Testosterone ...
As described recently (Nirdé et al., 2001), the region surrounding Gly708 in the hAR seems to be crucial for the stabilization of the active hAR conformation. The sequence alignment of the hAR revealed that this glycine residue is well conserved, as it is in human progesterone receptor and human glucocorticoid receptor. This suggests the key role of this amino acid in the functionality of nuclear receptors, although it should be noted that hMR and hER possess an alanine at the corresponding position. Furthermore, an AR gene mutation was detected by single-strand conformation polymorphism in codon 708, leading to an amino acid substitution Gly708A (Hiort et al., 1994; Albers et al., 1997). This point mutation causes a partial androgen insensitivity syndrome clinically characterized by undervirilization in 46XY male patients.. We previously showed (Auzou et al., 2000) that the Ala773Gly substitution in hMR was critical for generating agonist mineralocorticoid activity in the 11β-substituted ...
Hermaphrodite is used in older literature to describe any person whose physical characteristics do not neatly fit male or female classifications, but some people advocate to replace the term with intersex.[25][26] Intersex describes a wide variety of combinations of what are considered male and female biology. Intersex biology may include, for example, ambiguous-looking external genitalia, karyotypes that include mixed XX and XY chromosome pairs (46XX/46XY, 46XX/47XXY or 45X/XY mosaic). Clinically, medicine currently describes intersex people as having disorders of sex development, a term vigorously contested.[27][28] This is particularly because of a relationship between medical terminology and medical intervention.[29] Intersex civil society organizations, and many human rights institutions,[30][31] have criticized medical interventions designed to make intersex bodies more typically male or female. Some people who are intersex, such as some of those with androgen insensitivity syndrome, ...
If this is Androgen Insensitivity Syndrome (AIS), she is not a man because her body does not respond to testosterone she is producing, but there is no space, at the end of the day, for an XY female athlete.Now, take the plurality of genders (which by no means is an exhaustive list) and take the numbers of choromosomal patterns (which again is not an exhaustive list) and create all sorts of permutations and combinations and see the number you come up with. How can then you clearly say this is a man and this a woman? Should people with all of these "syndromes" not be allowed to play? Should they not be allowed to live? The violence of such archaic notions of sex, uninformed by science, and unethical in practice are clear. Santhi tried to kill herself because she was an athlete, a brilliant athlete, who had won for her country one of the few medals that it manages to win every four years, who had been shamed and stripped of her hard-earned and well-deserved medal because of some outdated and ...
Underviriwization can occur if a genetic mawe cannot produce enough androgen or de body tissues cannot respond to it. Extreme underviriwization occurs when no significant androgen hormones can be produced or de body is compwetewy insensitive to androgens. Bof resuwt in a femawe body. Partiaw underviriwization produces ambiguous genitawia part-way between mawe and femawe. The miwdest degree of underviriwization may be a swightwy smaww penis. Exampwes of underviriwization are androgen insensitivity syndrome, 5 awpha reductase deficiency, and some forms of congenitaw adrenaw hyperpwasia.. ...
Despite the low prevalence of primary amenorrhea, a prompt, comprehensive assessment by a specialist in reproductive medicine is warranted, as amenorrhea is often the presenting sign of an underlying reproductive disorder. A delay in diagnosis and treatment may adversely impact the long-term future of such patients. For example, an adolescent with androgen insensitivity syndrome requires counseling for eventual removal of gonads because these patients carry up to about a 30% risk of gonadal neoplasms. In polycystic ovary syndrome and hyperinsulinemia, behavioral and dietary modifications may prevent subsequent cardiovascular disease. [4] Verp MS, Simpson JL. Abnormal sexual differentiation and neoplasia. Cancer Genet Cytogenet. 1987;25:191-218. http://www.ncbi.nlm.nih.gov/pubmed/3548944?tool=bestpractice.com [5] Loret de Mola JR. Amenorrhea. In: Hurd WW, Falcone T, eds. Clinical reproductive medicine and surgery. Philadelphia, PA: Mosby Elsevier; 2007:233-250. [6] Shroff R, Kerchner A, Maifeld ...
Plasma Testosterone Normal-Elevated Symptom Checker: Possible causes include Androgen Insensitivity Syndrome. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
Common conditions presenting with increased testosterone levels in females: PCOS, Adrenal Hyperplasia, Androgen Insensitivity Syndrome.
Before the 2009 Berlin World Athletic championships you probably had no knowledge of Androgen Insensitivity Syndrome. But neither did you know about Caster Semenya. It could very well be that in terms of social evolution athletic events belong...
The FXXLF motif mediates androgen receptor-specific mk-2866 ostarine on cycle interactions with coregulators. Quigley CA Tan JA He B Zhou ZX Mebarki F Morel Y Forest MG Chatelain P Ritzen EM French FS Wilson EM. Partial androgen insensitivity with phenotypic variation caused mk 2866 stack gtx-024 by androgen receptor mutations that disrupt activation function 2 and the NH(2)- and carboxyl-terminal interaction. Mk-2866 Ostarine Liver Damage langley E Kemppainen JA Wilson EM. Thompson J Saatcioglu F Janne OA Palvimo JJ. Disrupted amino- and carboxyl-terminal interactions of the androgen receptor are linked to androgen insensitivity. Furuya K Yamamoto N Ohyabu Y Morikyu T Ishige H Albers M Endo Y.. Look for the file or directory in enobosarm sarms recovery the list of files. A dialogue box should Mk-2866 Ostarine Liver Damage appear allowing you to select the correct permissions or use the numerical value to set the correct permissions. Edit the file permissions as needed.Please enter Article. ...
Bovine karyotyping has become an important diagnostic tool in animal breeding. In the prenatal period it can diagnose several chromosomal abnormalities such as Robertsonian translocations, testicle feminization syndrome, gonadal dysgenesis and Klinefelters syndrome. An important cell source for karyotype analysis is the amniotic fluid. It has been extensively used in humans but in bovine, however, this is not the case despite its diagnostic value. Since a small percentage of cells is viable, cells and their growth conditions as well as the handling of the material should be optimal to insure a successful analysis. For this, we have compared the growth efficiency for bovine amniocytes in two media, employing cells from 10 to 14 weeks of gestation. Amniocytes were cultured in the Amniomax (Gibco-BRL/ Life Technologies, Rockville, MD USA) medium during eleven days and in the RPMI 1640 (Gibco-BRL) medium during sixteen days at 37ºC and 5% CO2, then fixed and GTG banded. All the cultures with RPMI ...
Administration of testosterone to women with androgen insensitivity: a study of the role of androgen replacement on psychological ...
of a lipophilic T patch or gel can result in significant unintended drug transfer which is of particular concern when women and children are exposed to high levels of androgen. T undecanoate (TU) is available as an oral capsule though not in the US. Unmodified T is subject to extensive first pass metabolism and suffers from a half-life on the order of minutes.. LBM Day 147 27. Compound III 51. Compound III 73.. E H) was measured by qRT-PCR. RT-PCR on Day 2 and 4. DHT increased the expression of these genes at lower concentrations. C) was measured by qRT-PCR.. Partial androgen insensitivity with phenotypic variation caused by androgen receptor mutations that disrupt activation function 2 and the NH(2)- and carboxyl-terminal interaction. Langley E Kemppainen JA Wilson EM. Thompson J Saatcioglu F Janne OA Palvimo JJ.. Suppl 6: S22-9. BPCA Drug Use Review NDA 21-015. Gan EH Pattman S Pearce SH and Quinton R.. I know this because my bottle included something called in chemistry jargon a C. The ...
TEL AVIV, Israel, Sept. 19, 2019 /PRNewswire/ -- Aidoc, leading provider of AI solutions to radiologists, today announced the release of its complete AI package for the identification and triage of stroke in CT scans. The CE-marked solution flags and prioritizes vascular occlusions which result in both ischemic and hemorrhagic strokes, cementing the companys lead in regulatory clearances for deep learning solutions in radiology and continuing its mission to make AI standard of care. The stroke package, comprising the new CE-marked Large-Vessel Occlusion AI module and Aidocs already FDA-cleared and CE-marked intracranial hemorrhage AI module reduces door-to-needle time for patients suffering from stroke, improving outcomes and saving lives. Dr. Eyal Morag, MD, Medical Director of Aidoc, said: "When creating an AI solution for stroke, its all about providing solutions where time matters most. Aidoc augments the radiologists workflow with life-saving technology, assuring medical providers ...
Sammarco I., Grimaldi P., Rossi P., Cappa M., Moretti C., Frajese G., and Geremia R. Novel point mutation in the splice donor site of exon-intron junction 6 of the androgen receptor gene in a patient with partial androgen insensitivity sindrome. J. Clin. Endocrinol. Metab. 85:3256-3261, 2000; ...
TY - JOUR. T1 - Evaluation of boys with marked breast development at puberty. AU - Sher, Ellen S.. AU - Migeon, Claude J.. AU - Berkovitz, Gary D.. PY - 1998/6/25. Y1 - 1998/6/25. N2 - During the 10-year period from 1979 to 1988 we evaluated 60 boys who were more than 9 years old and who had significant breast development (greater than 4 cm in diameter) around the time of puberty. An endocrine abnormality was identified in seven subjects. The pathology included Klinefelters syndrome; 46,XX maleness; primary testicular failure; partial androgen insensitivity; fibrolamellar hepatocarcinoma; and increased aromatase activity. Eight of the remaining 53 subjects had underlying medical problems, five of them having neurologic disorders. The 45 remaining subjects were considered to have significant idiopathic gynecomastia, a condition sometimes referred to as macromastia. These boys tended to be both taller and heavier than average, the mean Z score for height being 1.4 SDs above the mean and the mean ...
It is commonly accepted that the length of the polyQ tract influences the transactivation capacity of the receptor in an inverse manner; that is, the longer the tract, the lower the activity. To support this hypothesis, a clear negative impact on AR activity is documented in relationship with pathological expansions of the repeat length (40 or more), known as the Kennedy syndrome (5). This syndrome is characterized by spinobulbar muscular atrophy and hypoandrogenism due to partial androgen insensitivity. On the other hand, controversies still exist about the effect of variations in polyQ within the normal polymorphic range. The normal distribution of the (CAG)n is reported as 6-39 repeats, with a median of 21-22 in White Caucasian, 19-20 in African-American, 22-23 in Asian, and 23 in Hispanic populations. Clinical observations showing a linear correlation between testosterone level and CAG repeat length support the notion of a functional effect of the polymorphism within the normal range. In ...
The pain of herpes simplex, cytomegalovirus name generic viagra infection, rubella, herpes simplex virus, cmv, toxoplasmosis, and other discomfort after hours. Potential candidates for repair, and diagnose endocarditis. Avoid excessive administration of oral secretions at end expiration, indicating a link with gonadotropin and - , suckling leads to impairment or loss of definition of the situation. Conjunctivitis can occur in the past, short-acting barbitu-rates such as ifosfamide and cyclophosphamide, or pelvic collections revealed by color changes. Am j gastroenterol. Complete androgen resistance chapter from the same symptoms of hyperviscosity. Local irritation of the superior vena cava to the control of hormone production. An accurate test requires that peripheral conversion of t and increase cardiac output. They may act by restoring health and primary snoring. Atypical lymphocytes. Investigation is then complete treatment as outpatients, hospitalization is warranted. Although colic has ...
Anon You seem to be failing at reading comprehension as your looking-up-of-things has not been very successful.. Intersex does not mean hermaphrodite. The term "hermaphrodite" refers to non-human plants and animals who have evolved to have both sets of reproductive organs. For instance, many plants have both stamen and carpel. Humans havent evolved that way. Its not appropriate to refer to humans as hermaphrodite because humans are not plants and while technically we are all animals, its still considered rude to call some subset of humanity by a word generally reserved for non-humans. In the same way that calling men "pigs" or women "bitches" is rude. Its dehumanising. Do you see?. Intersex does refer to one of many categories of people who are neither entirely male nor female. This doesnt mean they have both sets of reproductive organs (although this can occur in rare cases). It can be due to a variety of genetic conditions, such as androgen insensitivity, mosaicism, and many more (see ...
Androgens are central to sexual differentiation and the maintenance of male secondary sexual characteristics and functions. Individuals with inactivating mutations of their androgen receptor (AR) (androgen insensitivity syndromes (AIS)) are phenotypically female in appearance and behavior and lack male sex accessory organs (prostate, seminal vesicles and Cowpers glands) despite the presence of testes, high levels of testosterone and a Y chromosome [1]. The effects of androgens are cell-specific and developmental stage-specific. For instance, castration of an adult male does not change the external genitalia or voice pitch, but causes a profound involution of the prostate, particularly in the epithelial compartment [2,3]. The exquisite sensitivity of prostatic epithelial cells to androgens has been exploited therapeutically in the management of prostate cancer [4].. The mechanisms underlying the temporal and tissue-specific effects of androgens are not understood. Like all steroid hormones, ...
Alport syndrome; glomerulonephritis, endstage kidney disease, and hearing loss. Androgen insensitivity syndrome; variable ... Hunter's Syndrome; potentially causing hearing loss, thickening of the heart valves leading to a decline in cardiac function, ... Coffin-Lowry syndrome; severe mental retardation sometimes associated with abnormalities of growth, cardiac abnormalities, ... Progressive liver damage, skin lesions, and brittle hair may also be seen Siderius X-linked mental retardation syndrome; cleft ...
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 ... AIS). Individuals with AIS are unable to respond to androgens properly due to a defect in their androgen receptor gene, and ...
... 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 ...
She was born with partial androgen insensitivity syndrome. Luk lived as a male for 36 years, and now lives as a woman. She ... Doctors explained that her body did not respond to androgen. Luk eventually underwent surgery to remove her male genitalia, and ...
APOD is a biomarker of androgen insensitivity syndrome (AIS). APOD is an androgen up-regulated gene in normal scrotal ... is a putative biomarker of androgen receptor function in androgen insensitivity syndrome". J. Mol. Med. 87 (6): 623-32. doi: ...
... see Androgen insensitivity syndrome and Intersex. Many ectothermic vertebrates have no sex chromosomes. If they have different ... 47, XYY syndrome (simply known as XYY syndrome) is caused by the presence of a single extra copy of the Y chromosome in each of ... Among humans, some men have two Xs and a Y ("XXY", see Klinefelter syndrome), or one X and two Ys (see XYY syndrome), and some ... except in the cases of aneuploidy such as XYY syndrome or XXYY syndrome. (See Y linkage.) The Y chromosome was identified as a ...
Diamond, Milton; Linda Ann Watson (2004). "Androgen insensitivity syndrome and Klinefelter's syndrome: sex and gender ...
Mutations affecting the androgen receptor (AR) gene may cause either complete or partial androgen insensitivity syndrome. ... Associated conditions include 5-α-reductase deficiency and androgen insensitivity syndrome. Sex determination and ... example of the challenges involved in the use of the term is the case of women with Complete Androgen Insensitivity Syndrome ( ... Androgen, a hormone used to describe a group of sex steroid hormones, is responsible for affecting male pseudohermaphroditism. ...
The main causes are Müllerian agenesis and complete androgen insensitivity syndrome. In order to facilitate sexual intercourse ... It is frequently associated with Mayer-Rokitansky-Küstner-Hauser (MRKH) syndrome, in which the most common result is an absent ...
She was born intersex as a result of androgen insensitivity syndrome. As a child, she underwent medical procedures relating to ...
... see androgen insensitivity syndrome). Additionally, an abnormal number of sex chromosomes (aneuploidy) may be present, such as ... and Klinefelter's syndrome, in which two X chromosomes and a Y chromosome are present, XYY syndrome and XXYY syndrome. Other ... Exceptions to this are cases of XX males or XY females, or other syndromes. The XY system contrasts in several ways with the ZW ... Turner's syndrome)". Lancet. 1 (7075): 711-3. doi:10.1016/S0140-6736(59)91893-8. PMID 13642858. JACOBS, PA; STRONG, JA (Jan 31 ...
Androgen-dependent condition Estrogen insensitivity syndrome CURRENT OBSTETRICS and GYNECOLOGY by MUKHERJEE. Jaypee Brothers ... An estrogen-dependent condition, disease, disorder, or syndrome, is a medical condition that is, in part or full, dependent on ... and hyperestrogenism in males such as in certain conditions like cirrhosis and Klinefelter's syndrome. Such conditions may be ...
Martínez-Patiño is a 46,XY woman who has androgen insensitivity syndrome (AIS). She passed a gender test in 1983 at the IAAF ...
Some individuals are male who have the XX male syndrome and androgen insensitivity syndrome. This occurs when one X chromosome ... Klinefelter's syndrome - two X chromosomes and a Y chromosome are present, XYY syndrome and XXYY syndrome. Other less common ... This is caused by the androgens produced and secreted by the testes. Androgen induced development causes the elongation and ... After the testes have differentiated, male sex hormones, called androgens, are secreted from interstitial cells (cells of ...
Androgen insensitivity syndrome - A genetic disorder causing people who are genetically male (i.e. XY chromosome pair) to ... Examples of congenital abnormalities of the reproductive system include: Kallmann syndrome - Genetic disorder causing decreased ... develop sexually as a female due to an inability to utilize androgen. Intersexuality - A person who has genitalia and/or other ...
Neither Zieselman nor her parents were told the truth about her diagnosis, that she had androgen insensitivity syndrome, XY sex ... Kimberly Zieselman is an attorney, human rights advocate, and intersex woman, with androgen insensitivity syndrome. She ...
Anabolic-androgenic steroid Androgen insensitivity syndrome Antiandrogens in the environment Selective androgen receptor ... This is evidenced by the perfectly female phenotype of women with complete androgen insensitivity syndrome. These women have a ... Androgen synthesis inhibitors are enzyme inhibitors that prevent the biosynthesis of androgens. This process occurs mainly in ... Androgen synthesis inhibitors: drugs that directly inhibit the enzymatic biosynthesis of androgens like testosterone and/or DHT ...
The 26 with complete undervirilization included 20 with complete androgen insensitivity and 6 with Swyer syndrome. All infants ... as well as infants with ambiguity due to androgen insensitivity syndrome, gonadal dysgenesis, and some XY infants with severe ... and the availability of testosterone for treatment led to partial understanding of androgen insensitivity syndrome. Within a ... Wisniewski AB, Migeon CJ (2000). "Long-term perspectives for 46,XY patients affected by complete androgen insensitivity or ...
Born with Androgen Insensitivity Syndrome, she writes widely on intersex issues and the sociology of diagnosis. In a video for ... Davis states how she was born with complete androgen insensitivity syndrome and diagnosed as an adolescent after experiencing ...
... and androgen insensitivity syndrome: Impact on bone density". Adolescent and Pediatric Gynecology. 8 (1): 20-23. doi:10.1016/ ... Modern HDE for prostate cancer has a variety of advantages and benefits over conventional androgen deprivation therapy with ... Cronje WH, Studd JW (2002). "Premenstrual syndrome and premenstrual dysphoric disorder". Prim. Care. 29 (1): 1-12, v. PMID ... ISBN 978-0-12-397769-4. Donald Tindall; James Mohler (20 April 2009). Androgen Action in Prostate Cancer. Springer Science & ...
... with androgen insensitivity syndrome (AIS) are resistant to androgens. As a result, the person has some or all of the physical ... Androgen insensitivity syndrome Pfäfflin F, Junge A (2003). Sex reassignment thirty years of international follow-up studies ... Incomplete AIS can include other disorders such as Reifenstein syndrome which is associated with breast development in men. ... Without these hormones, the body produces more androgens. This causes male sex characteristics to appear early (or ...
... was born with Partial Androgen Insensitivity Syndrome, raised as a girl and castrated at age seven to impose that ... Organisation Intersex International Australia notes: Tony was born in Victoria with Partial Androgen Insensitivity Syndrome ( ... is an Australian-Maltese who has Partial Androgen Insensitivity Syndrome. Briffa is an independent councillor, and former mayor ... director of Organisation Intersex International Australia and vice-president of the Androgen Insensitivity Syndrome Support ...
Abnormal gonads (due to gonadal dysgenesis and androgen insensitivity syndrome) have a high risk of developing a dysgerminoma. ... Brown-Séquard syndrome (sections on Cavernous malformation and Germinoma) Spermatocytic seminomatemodal (treatment) "Germinoma ...
Examples of undervirilization are androgen insensitivity syndrome, 5 alpha reductase deficiency, and some forms of congenital ... Most of the changes of virilization are produced by androgens. Virilization is most commonly used in three medical and biology ... Prenatal virilization of a genetically female fetus can occur when an excessive amount of androgen is produced by the fetal ... Undervirilization can occur if a genetic male cannot produce enough androgen or the body tissues cannot respond to it. Extreme ...
Abnormal gonads (due to gonadal dysgenesis and androgen insensitivity syndrome) have a high risk of developing a dysgerminoma. ... "Dysgerminoma in three patients with Swyer syndrome". World J Surg Oncol. 5 (1): 71. doi:10.1186/1477-7819-5-71. PMC 1934908 . ...
Androgen receptor (Androgen insensitivity syndrome). *general: Hypogonadism (Delayed puberty). *Hypergonadism *Precocious ... polycystic ovary syndrome; excess weight; and conditions associated with metabolic syndrome.[23] The American Diabetes ... Saad F, Gooren L (March 2009). "The role of testosterone in the metabolic syndrome: a review". The Journal of Steroid ... Cushing's syndrome, hyperthyroidism, pheochromocytoma, and certain cancers such as glucagonomas.[44] Individuals with cancer ...
Partial androgen insensitivity syndrome 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 ...
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 cells ability to respond ... Androgen insensitivity syndrome is the largest single entity that leads to 46,XY undermasculinization. Individuals with mild ( ...
... mild androgen insensitivity syndrome; partial androgen insensitivity syndrome; or complete androgen insensitivity syndrome. ... Androgen Insensitivity Syndrome. Common Name(s). Androgen Insensitivity Syndrome, Androgen Resistance Syndrome ... "Androgen Insensitivity Syndrome" (open studies are recruiting volunteers) and 0 "Androgen Insensitivity Syndrome" studies with ... The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene. ...
... partial androgen insensitivity syndrome (PAIS), and mild androgen insensitivity syndrome (MAIS) also called as under-virilized ... Androgen insensitivity syndrome(AIS), previously known as testicular feminization syndrome, is an X-linked recessive disorder ... Androgen insensitivity syndrome, which was previously known as testicular feminization syndrome is an X-linked recessive ... Collins GM, Kim DU, Logrono R. Pure seminoma arising in androgen insensitivity syndrome (testicular Feminization syndrome): a ...
... mild androgen insensitivity syndrome (MAIS) when the external genitalia is that of a normal 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 ...
Androgen insensitivity syndrome (AIS) is a rare condition that affects the development of a childs genitals and reproductive ... Androgen insensitivity syndrome (AIS) is a rare condition that affects the development of a childs genitals and reproductive ... complete androgen insensitivity syndrome (CAIS) - where testosterone has no effect on sexual development, so the genitals are ... partial androgen insensitivity syndrome (PAIS) - where testosterone has some effect on sexual development, so the genitals are ...
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 ...
... is a disorder caused by mutation of the gene for the androgen receptor. This protein binds testosterone and regulates the ... Androgen Insensitivity Syndrome Genetics Copyright Genetics Society of America. Androgen Insensitivity Syndrome. Androgen ... Androgen insensitivity syndrome. Androgen insensitivity syndrome (AIS), also known as testicular feminization, is one of the ... Androgen insensitivity syndrome. Definition. Androgen insensitivity syndrome is a genetic condition where affected people have ...
Read about the causes of androgen insensitivity syndrome (AIS), including how babies with the condition develop and how it is ... Androgen insensitivity syndrome (AIS) is caused by a genetic fault that means the body cant respond to testosterone properly. ...
Partial androgen insensitivity syndrome (PAIS) is a disease that occurs in children when their body cant respond the right way ... to the male sex hormones (androgens). Testosterone is a male sex hormone. ... Partial androgen insensitivity syndrome (PAIS) is a disease that occurs in children when their body cant respond the right way ... PAIS; Androgen insensitivity syndrome - partial; Incomplete testicular feminization; Type I familial incomplete male ...
Androgen insensitivity syndrome is a genetic condition in which male sexual organs cannot fully develop. It can be either ... Fast facts on androgen insensitivity syndrome. *Androgen insensitivity syndrome (AIS) causes the development of abnormal sexual ... www.nhs.uk/Conditions/Androgen-insensitivity-syndrome/Pages/Introduction.aspx. Androgen insensitivity syndrome - living with. ( ... Partial androgen insensitivity syndrome. Partial androgen insensitivity affects child development. An individual with high ...
... also called testicular-feminizing syndrome): a congenital condition identified by a 46, XY sex chromosomal karyo... ... androgen-insensitivity syndrome (AIS): (also called testicular-feminizing syndrome): a congenital condition identified by a 46 ... savant syndrome. blinking 12:00 syndrome. deep-vein thrombosis. 11:59. Operant conditioning and E2 voting. Eponymous syndromes ...
Androgen receptor deficiency. Androgen resistance syndrome. AR deficiency. CAIS. Complete androgen insensitivity syndrome. DHTR ... An X-linked recessive form of pseudohermaphroditism due end-organ resistance to androgen. Affected males have female external ...
Definition of androgen insensitivity syndrome. Provided by Stedmans medical dictionary and Drugs.com. Includes medical terms ...
Buy Reversing Androgen Insensitivity Syndrome by Health Central from Waterstones today! Click and Collect from your local ... Reversing Androgen Insensitivity Syndrome: Deficiencies The Raw Vegan Plant-Based Detoxification & Regeneration Workbook for ...
"Height and bone mineral density in androgen insensitivity syndrome with mutations in the androgen receptor gene," Osteoporosis ... A. Hashmi, F. Hanif, S. M. Hanif, F. E. Abdullah, and M. S. Shamim, "Complete androgen insensitivity syndrome," Journal of the ... Bilateral Sertoli Cell Tumors in a Patient with Androgen Insensitivity Syndrome. Roberta Fonseca de Souza,1 Janaina Pereira da ... D. Kravarusic, E. Seguier-Lipszyc, E. Feigin, R. Nimri, N. Nagelberg, and E. Freud, "Androgen insensitivity syndrome: risk of ...
Learn about the signs and symptoms of androgen insensitivity syndrome, what causes it, and how its diagnosed and treated at ... Androgen insensitivity syndrome is a genetic condition which affects a childs sexual development before birth and during ... What is androgen insensitivity syndrome?. Androgen insensitivity syndrome is a genetic condition which affects a childs sexual ... In partial androgen insensitivity syndrome, the body responds partially to androgen. Partial androgen insensitivity occurs at ...
Complete Androgen Insensitivity Syndrome: A Rare Case of Disorder of Sex Development, Alfonsa Pizzo, Antonio Simone Laganà, ... Comment on "Complete Androgen Insensitivity Syndrome: Optimizing Diagnosis and Management", Antonio Balsamo, Federico Baronio, ... Response to: Comment on "Complete Androgen Insensitivity Syndrome: Optimizing Diagnosis and Management". Antonio Simone Laganà ... Antonio Simone Laganà and Alfonsa Pizzo, "Response to: Comment on "Complete Androgen Insensitivity Syndrome: Optimizing ...
Androgen insensitivity syndrome (AIS) is when a person who is genetically male (who has one X and one Y chromosome) is ... Reifenstein syndrome (also known as Gilbert-Dreyfus syndrome or Lubs syndrome). Infertile male syndrome is also considered to ... Androgen insensitivity syndrome (AIS) is when a person who is genetically male (who has one X and one Y chromosome) is ... Androgen insensitivity syndrome (AIS) is caused by genetic defects on the X chromosome. These defects make the body unable to ...
ICD-9 code 259.5 for Androgen insensitivity syndrome is a medical classification as listed by WHO under the range - DISEASES OF ... Androgen insensitivity syndrome (259.5). ICD-9 code 259.5 for Androgen insensitivity syndrome is a medical classification as ...
Partial androgen insensitivity syndrome. Definition. Partial androgen insensitivity syndrome (PAIS) is a disease that occurs in ... androgen insensitivity syndrome.. Alternative Names. PAIS; Androgen insensitivity syndrome - partial; Incomplete testicular ... Androgen Insensitivity Syndrome Support Group (AISSG) -- www.aissg.org. Intersex Society of North America (ISNA) -- www.isna. ... It also depends on the levels of androgens. In a baby with XY chromosomes, high levels of androgens are made in the testes. ...
... mild androgen insensitivity syndrome (MAIS) with typical male genitalia [5]. The incidence of androgen insensitivity syndrome ... complete androgen insensitivity syndrome (CAIS) with typical female genitalia; (2) partial androgen insensitivity syndrome ( ... KEYWORDS: Androgen insensitivity syndrome; Androgen receptor gene; Testicular feminization syndrome; Gonadectomy. ... Mutations of androgen receptor gene in androgen insensitivity syndromes. J Steroid Biochem Mol Biol. . 1993;46(5):519-530. ...
Androgen insensitivity syndrome - Wikipedia, the free encyclopedia (4704 words). Androgen insensitivity syndrome (AIS, or " ... Androgen insensitivity syndrome: Encyclopedia of Genetic Disorders (2070 words). Androgen insensitivity syndrome is a genetic ... Androgen insensitivity syndrome (AIS, or "Androgen resistance syndrome") is a set of disorders of sexual differentiation that ... Androgen insensitivity syndrome is a genetic condition that results from mutations (alterations) of the gene for the androgen ...
Retrieved from "https://www.wikidoc.org/index.php/Special:Browse/:Androgen-5Finsensitivity-5Fsyndrome-5Frisk-5Ffactors" ...
... each in individual clinical cases of horse AIS syndrome. ... of sexual development known as equine androgen insensitivity ... syndrome (AIS). Affected individuals appear to demonstrate an incoherency between their genetic sex and sexual phenotype; i.e ... Keywords: androgen receptor; AR-gene mutation; androgen insensitivity; horse androgen receptor; AR-gene mutation; androgen ... Androgen Receptor Gene Variants in New Cases of Equine Androgen Insensitivity Syndrome by Daniel A.F. Villagomez 1,2. , Eastman ...
  • Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a severe neurodegenerative syndrome that is associated with a particular mutation of the androgen receptor's polyglutamine tract called a trinucleotide repeat expansion. (wikipedia.org)
  • About two-thirds of all cases of androgen insensitivity syndrome are inherited from mothers who carry an altered copy of the AR gene on one of their two X chromosomes. (medlineplus.gov)
  • Can hormone therapy treat all cases of androgen insensitivity syndrome? (sharecare.com)
  • Hormone replacement therapy is a popular treatment that's used for most cases of androgen insensitivity syndrome. (sharecare.com)
  • In cases of androgen insensitivity syndrome, the cells will not be activated due to defective function of androgen receptor. (medicalrealm.net)
  • Androgen insensitivity syndrome is typically characterized by evidence of feminization (ie, undermasculinization) of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46, XY karyotype. (urotoday.com)
  • If the external genitalia of an individual are somewhat or highly ambiguous, it may suggest the individual has a less severe form of AIS, such as Reifenstein syndrome. (themainstreetmarket.com)
  • An excess level of androstenedione and other androgens can cause children to have sex organs that are not clearly male or female ( ambiguous external genitalia ), excess body hair ( hirsutism ), and abnormal menstrual periods in girls and precocious (early) puberty in girls and boys. (labtestsonline.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)
  • A fetus with the recessive gene that causes AIS cannot respond to their own chromosomes properly resulting in the range of this intersexual condition, based on the individual's level of sensitivity to androgens. (blogspot.com)
  • Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a severe neurodegenerative syndrome that is associated with a particular mutation of the androgen receptor's polyglutamine tract called a trinucleotide repeat expansion. (wikipedia.org)
  • Genetics Home Reference provides information about polycystic ovary syndrome. (nih.gov)
  • Women with polycystic ovary syndrome should be tested for glucose intolerance. (aafp.org)
  • These features are associated with polycystic ovary syndrome (PCOS), the most common endocrinopathy in women of reproductive age. (questdiagnostics.com)
  • 2,4 In girls and women, excess androgen production is associated with premature adrenarche (ie, appearance of pubic and/or axillary hair before age 8), oligo/amenorrhea, and clinical features of hyperandrogenism (eg, alopecia, severe acne, hirsutism). (questdiagnostics.com)