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Androgen-Insensitivity Syndrome (Testicular Feminization)

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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.

Also Known As:

Testicular Feminization; Reifenstein Syndrome; Reifenstein's Syndrome; Androgen Receptor Deficiency; Androgen-Insensitivity Syndrome, Complete; Androgen-Insensitivity Syndrome, Partial; Testicular Feminization Syndrome; Androgen Insensitivity Syndrome; Androgen Insensitivity Syndrome, Complete; Androgen Insensitivity Syndrome, Partial; Androgen Receptor Deficiencies; Androgen-Insensitivity Syndromes; Androgen-Insensitivity Syndromes, Complete; Androgen-Insensitivity Syndromes, Partial; Complete Androgen-Insensitivity Syndrome; Complete Androgen-Insensitivity Syndromes; Deficiencies, Androgen Receptor; Deficiency, Androgen Receptor; Feminization Syndrome, Testicular; Feminization Syndromes, Testicular; Feminization, Testicular; Feminizations, Testicular; Partial Androgen-Insensitivity Syndrome; Partial Androgen-Insensitivity Syndromes; Receptor Deficiencies, Androgen; Receptor Deficiency, Androgen; Reifensteins Syndrome; Syndrome, Androgen-Insensitivity; Syndrome, Complete Androgen-Insensitivity; Syndrome, Partial Androgen-Insensitivity; Syndrome, Reifenstein; Syndrome, Reifenstein's; Syndrome, Testicular Feminization; Syndromes, Androgen-Insensitivity; Syndromes, Complete Androgen-Insensitivity; Syndromes, Partial Androgen-Insensitivity; Syndromes, Testicular Feminization; Testicular Feminization Syndromes; Testicular Feminizations

Networked: 725 relevant articles (5 outcomes, 62 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Gonadal Dysgenesis (Gonadal Agenesis)
2.	Virilism (Virilization)
3.	Hyperthyroidism
4.	Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal)
5.	XY Disorders of Sex Development 46 (Male Pseudohermaphroditism)

Experts

1.	Hiort, Olaf: 15 articles (01/2015 - 01/2003)
2.	Jordan, Cynthia L: 13 articles (03/2014 - 02/2005)
3.	Hughes, Ieuan A: 11 articles (08/2015 - 02/2003)
4.	Breedlove, S Marc: 11 articles (03/2014 - 06/2005)
5.	Sultan, Charles: 11 articles (01/2013 - 01/2002)
6.	Werner, Ralf: 8 articles (01/2015 - 09/2006)
7.	Hiort, O: 8 articles (01/2011 - 01/2000)
8.	Holterhus, Paul-Martin: 7 articles (09/2014 - 01/2003)
9.	Brinkmann, A O: 7 articles (01/2013 - 03/2001)
10.	Bunch, Trevor: 6 articles (08/2015 - 08/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Androgen-Insensitivity Syndrome:

1.	Testosterone (Sustanon)FDA Link 01/01/1970 - "Studies on testosterone metabolism in subjects with testicular feminization syndrome." 03/01/1969 - "In vivo studies on testosterone metabolism by skin of normal males and patients with the syndrome of testicular feminization." 05/01/2009 - "The ability of testosterone to repress AMH secretion was evaluated in male newborns, neonates, and two adults with androgen insensitivity syndrome and also in vitro using SMAT1 SC. " 04/01/2007 - "Blood testosterone concentration was low (0.75 ng/ml), thus the androgen insensitivity syndrome could be excluded. " 09/17/2006 - "In the androgen insensitivity syndrome (AIS) the androgen effect is decreased in the fetus and the youth despite the adequate testosterone production. "
2.	Dihydrotestosterone (Androstanolone)IBA 01/01/1986 - "Autoradiographic studies with 3H dihydrotestosterone in the brain of sex reversed mice, heterozygous for androgen insensitive testicular feminization (Tfm). " 08/18/1977 - "Dihydrotestosterone binding studies in skin fibroblasts demonstrated two genetic variants similar to those reported in complete androgen insensitivity syndrome. " 01/01/2002 - "Androgen insensitivity syndromes (AIS) result from the incapacity for T and dihydrotestosterone to virilize male embryos and is mainly attributable to molecular defects of the AR gene. " 03/01/2001 - "Phenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5alpha dihydrotestosterone availability." 01/01/1986 - "Specific binding sites for 3H dihydrotestosterone are demonstrated by autoradiography in brain nuclei of sex reversed mice heterozygous for testicular feminization (Tfm) which are phenotypically intersexes with testes and accessory sex glands that consist of a mosaic of androgen insensitive Tfm cells which lack specific dihydrotestosterone binding and androgen sensitive normal cells. "
3.	HormonesIBA 11/04/1994 - "The actions of the two primary hormones of male sexual differentiation were genetically eliminated using the testicular feminization (Tfm) mutation in combination with the MIS mutant allele. " 01/01/1995 - "Studies of men and women who experienced defect in hormone metabolism (i.e., CAH and testicular feminization) have not found a concurrent increase in homosexual behavior. " 07/01/2015 - "The phenotype, ultrasonographic examination, hormone status, cytogenetic evaluation and molecular diagnostics lead to the diagnosis of an XY testicular disorder of sexual development (DSD) due to a complete androgen insensitivity syndrome. " 01/01/2015 - "Characteristic features of reproductive hormone profiles in late adolescent and adult females with complete androgen insensitivity syndrome." 07/01/2014 - "Complete Androgen insensitivity syndrome is a disorder of hormone resistance characterized by a female phenotype in an individual with an XY karyotype. "
4.	SteroidsIBA 09/15/1989 - "Understanding how steroids work has led to improved comprehension of such derangements of hormonal regulation as testicular feminization. " 12/01/1985 - "A patient with clinical manifestations of the incomplete androgen insensitivity syndrome was studied with respect to peripheral blood levels of steroids and steroid sulphates before, during and after gonadectomy. " 10/01/1981 - "Pituitary sensitivity ot nonandrogenic steroids appears to be normal in cases of testicular feminization. " 11/01/1980 - "Steroids in spermatic and peripheral vein blood in testicular feminization." 08/01/1974 - "Formation and metabolism of 5 alpha-reduced steroids by gonadal tissue in testicular feminization."
5.	Cholestenone 5 alpha-Reductase (5 alpha-Reductase)IBA 01/01/1995 - "Prenatal deprivation of androgen action, due to mutations in either the AR or the 5 alpha-reductase gene, results in developmental abnormalities of male reproductive tissues and also cause partial or complete androgen-insensitivity syndromes. " 03/01/1988 - "The low 5 alpha-reductase activity of androgen insensitive subjects reported here, and by others, may imply that this enzyme in genital skin is in some way androgen dependent, or responsive to other factors associated with androgen insensitivity syndrome." 03/01/1988 - "The activity of 5 alpha-reductase in genital and supra-pubic skin (homogenate or fibroblasts) from subjects with complete or incomplete androgen insensitivity syndrome was low compared with mean activity in samples from normally differentiated male controls. " 03/01/1988 - "Evidence for secondary 5 alpha-reductase deficiency in genital and supra-pubic skin of subjects with androgen insensitivity syndrome." 12/01/1979 - "Male pseudohermaphroditism: a comparative study of one patient with 5 alpha-reductase deficiency and three patients with the complete form of testicular feminization."
6.	NitrogenIBA 11/01/1977 - "Different from the complete form of testicular feminization in which androgens are normal or elevated and end-organ insensitivity to androgens is supposed, this case had a negligible amount of androgens and responded to the injection of testosterone propionate with a positive nitrogen and phosphate balance." 04/01/1997 - "To investigate the responses of two patients previously diagnosed as Reifenstein's syndrome to graded high-dose testosterone in terms of hormone levels, nitrogen balance and sebum secretion and to attempt to correlate these parameters with the properties of their androgen receptors and mutations in the androgen receptor gene. " 10/01/1984 - "In all of the subjects with 5 alpha-reductase deficiency and one man with the Reifenstein syndrome significant response occurred, as evidence by nitrogen retention, lowered plasma LH levels, and improved virilization, with doses of parenteral testosterone esters that raised plasma testosterone levels above the normal male range and brought plasma dihydrotestosterone levels into the normal male range. "
7.	Androstenedione (4 Androstene 3,17 dione)IBA 05/01/1972 - "In three patients with testicular feminization syndrome (an adult with hyperthyroidism and two children) these two MCRs were greatly reduced compared to the normal females, but the conversion of testosterone into dihydrotestosterone was in the limits of normal male rangeIn the normal subjects the renal clearance of androstenedione was greater than that of testosterone and dihydrotestosterone. " 03/01/1976 - "The metabolism of C19- and C18-steroids, in particular, the aromatization of androstenedione and testosterone, the interconversion of androgens to estrogens and the 5alpha-reductase activity of a right abdominal (r) and a left inguinal (l) testis of a patient with testicular feminization, are reported. "
8.	EstersIBA 10/01/1984 - "In all of the subjects with 5 alpha-reductase deficiency and one man with the Reifenstein syndrome significant response occurred, as evidence by nitrogen retention, lowered plasma LH levels, and improved virilization, with doses of parenteral testosterone esters that raised plasma testosterone levels above the normal male range and brought plasma dihydrotestosterone levels into the normal male range. "
9.	Androgen Receptors (Androgen Receptor)IBA 04/01/2011 - "A novel mutation Glu441stop (GAA to TAA) of the androgen receptor gene leading to complete androgen insensitivity syndrome was identified in this study in a Chinese patient. " 12/01/2009 - "To study the mutation of the androgen receptor gene in a family with complete androgen insensitivity syndrome and to explore the pathogenicity of the mutation. " 02/09/2005 - "To study the potential role of androgen receptors in spatial learning and memory, we tested adult 6-8-month-old mutant mice with a naturally occurring defect in the androgen receptor gene (testicular feminization mutant or tfm) and C57Bl/6J wild-type mice. " 03/01/2004 - "Using clinical, molecular, and genetic studies, the patient was found to have partial androgen insensitivity syndrome (PAIS) caused by a novel mutation (Ser(740)Cys) in the ligand-binding domain of the androgen receptor. " 12/01/2003 - "Recent structural studies of the ligand-binding domain (LBD) of the androgen receptor (AR) have raised more questions than answers, as most of the known pathogenic mutations of the AR gene causing androgen insensitivity syndrome (AIS) are not in the ligand-binding pocket. "
10.	AndrogensIBA 01/01/2012 - "The study was performed on a girl with 46XY karyotype and lack of sensitivity to androgens, known in gynecology as "testicular feminization syndrome" or Morris syndrome. " 02/22/1989 - "To study further the role of androgens in the development of sex differences in SNB motoneuron number, we examined SNB development in males with the testicular feminization mutation (Tfm) which renders them insensitive to androgens. " 01/01/1982 - "Parallel studies demonstrated a marked reduction in the ability of fibroblasts from patients with complete testicular feminization to bind androgens in vitro compared with those of normal individuals. " 01/27/1968 - "Secretion of androgens and oestrogens in testicular feminization: studies in vivo and in vitro in two cases." 01/01/2016 - "The androgen insensitivity syndrome is an X-linked recessive genetic disorder characterized by resistance to the actions of androgens in an individual with a male karyotype. "

Therapies and Procedures

1.	Laparotomy 02/01/1975 - "A case of a 31-year-old patient showing the typical features of testicular feminization is presented.--Laparotomy was performed, and a large cystic tumour at the place of the right gonad was removed. " 04/01/1996 - "The laparoscopic approach is a safe and effective alternative to laparotomy in the management of patients with Y-chromosome-bearing gonadal dysgenesis and with androgen insensitivity syndrome." 08/01/1993 - "Androgen insensitivity syndrome (testicular feminization) is classically diagnosed by history, physical examination, karyotype and ultimately exploratory laparotomy. "
2.	Castration 01/01/2013 - "Recent studies of AR knockout (ARKO) mouse models, particularly the cell type- or tissue-specific ARKO models, have uncovered many AR cell type- or tissue-specific pathophysiological roles in mice, which otherwise would not be delineated from conventional castration and androgen insensitivity syndrome studies. " 08/01/2009 - "We saw no effect of castration or the testicular feminization allele on expression of the receptor for GRP in the spinal cord, but castration did reduce expression of AR transcripts within the spinal cord as revealed by real-time quantitative PCR and Western blots. " 02/01/1979 - "Spontaneous breast development in an adolescent girl with testicular feminization after castration in early childhood." 04/01/2004 - "Nowadays, cases of undiagnosed seminoma developing into a huge abdominal mass in patients with testicular feminization are rarely encountered, since surgical castration is generally recommended as early as possible after puberty. " 10/26/1978 - "After a short review of the chemistry, biosynthesis and physiology (regulation of production and secretion, effects) of the male sex hormones, the possible disturbances of the male sex hormones, the possible disturbances of the male sex function are pathophysiologically listed and some instructive diseases, as castration, testicular feminization, Kallmann syndrome, prolactinoma and flour-bag-drawfs, are discussed. "
3.	Contraception (Birth Control) 01/01/1976 - " It is conceivable that studies of receptivity will generate therapeutic approaches for the treatment of the testicular feminization syndrome where no testosterone receptors are active, for lymphoma resistant to corticoids, and for fertility control."
4.	Orchiectomy (Orchidectomy) 02/01/2014 - "Patients diagnosed with androgen insensitivity syndrome (AIS) need bilateral gonadectomy (orchiectomy) for malignancy risk reduction. " 09/01/2012 - "Umbilical KeyPort bilateral laparoscopic orchiectomy in patient with complete androgen insensitivity syndrome." 02/01/2008 - "For the other 2 female cases, the etiology was complete androgen insensitivity syndrome and laparoscopic bilateral orchiectomy was performed for both of them. " 06/01/2003 - "To describe an operative approach to bilateral orchiectomy for complete androgen insensitivity syndrome (AIS) and to report patient status 1 year after surgery. " 06/01/2003 - "Bilateral orchiectomy for the surgical treatment of complete androgen insensitivity syndrome: patient outcome after 1 year of follow-up."
5.	Individualized Medicine 01/01/2011 - "Androgen receptor mutations associated with androgen insensitivity syndrome: a high content analysis approach leading to personalized medicine." 01/01/2009 - "Androgen receptor mutations associated with androgen insensitivity syndrome: a high content analysis approach leading to personalized medicine."