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Androgen-Insensitivity Syndrome (Testicular Feminization)

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; AR Deficiency; Androgen Insensitivity Syndrome; Androgen Insensitivity, Partial; Androgen Receptor Deficiency; Androgen Resistance Syndrome; Androgen-Insensitivity Syndrome, Complete; Androgen-Insensitivity Syndrome, Partial; DHTR Deficiency; Dihydrotestosterone Receptor Deficiency; Male Pseudohermaphroditism Due to Androgen Insensitivity; Testicular Feminization Syndrome; AR Deficiencies; Androgen Insensitivities, Partial; Androgen Insensitivity Syndrome, Complete; Androgen Insensitivity Syndrome, Partial; Androgen Insensitivity Syndromes; Androgen Receptor Deficiencies; Androgen Resistance Syndromes; Androgen-Insensitivity Syndromes; Androgen-Insensitivity Syndromes, Complete; Androgen-Insensitivity Syndromes, Partial; Complete Androgen-Insensitivity Syndrome; Complete Androgen-Insensitivity Syndromes; DHTR Deficiencies; Deficiencies, AR; Deficiencies, Androgen Receptor; Deficiencies, DHTR; Deficiencies, Dihydrotestosterone Receptor; Deficiency, AR; Deficiency, Androgen Receptor; Deficiency, DHTR; Deficiency, Dihydrotestosterone Receptor; Dihydrotestosterone Receptor Deficiencies; Feminization Syndrome, Testicular; Feminization Syndromes, Testicular; Feminization, Testicular; Feminizations, Testicular; Insensitivities, Partial Androgen; Insensitivity Syndrome, Androgen; Insensitivity Syndromes, Androgen; Insensitivity, Partial Androgen; Partial Androgen Insensitivities; Partial Androgen Insensitivity; Partial Androgen-Insensitivity Syndrome; Partial Androgen-Insensitivity Syndromes; Receptor Deficiencies, Androgen; Receptor Deficiencies, Dihydrotestosterone; Receptor Deficiency, Androgen; Receptor Deficiency, Dihydrotestosterone; Reifensteins Syndrome; Resistance Syndrome, Androgen; Resistance Syndromes, Androgen; Testicular Feminization Syndromes; Testicular Feminizations
Networked: 1117 relevant articles (9 outcomes, 84 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Gonadal Dysgenesis (Gonadal Agenesis)
2. Virilism (Virilization)
3. Pseudovaginal Perineoscrotal Hypospadias
4. Hyperthyroidism
5. Cataract (Cataracts)

Experts

1. Hiort, Olaf: 23 articles (01/2022 - 01/2003)
2. Werner, Ralf: 16 articles (01/2022 - 09/2006)
3. Jordan, Cynthia L: 15 articles (01/2019 - 02/2005)
4. Holterhus, Paul-Martin: 13 articles (01/2022 - 01/2003)
5. Breedlove, S Marc: 13 articles (01/2019 - 06/2005)
6. Sultan, Charles: 13 articles (01/2018 - 01/2002)
7. Hiort, O: 13 articles (11/2016 - 01/2000)
8. Hughes, Ieuan A: 12 articles (10/2018 - 02/2003)
9. Bertelloni, Silvano: 10 articles (01/2021 - 01/2010)
10. Hughes, I A: 9 articles (11/2016 - 02/2000)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Androgen-Insensitivity Syndrome:
1. Testosterone (Sustanon)FDA Link
2. Dihydrotestosterone (Androstanolone)IBA
3. Hormones (Hormone)IBA
4. SteroidsIBA
5. Cholestenone 5 alpha-Reductase (5 alpha-Reductase)IBA
6. GonadotropinsIBA
7. NitrogenIBA
8. 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. "
04/01/2019 - "Abbreviations: 5α-RD2: 5α-Reductase type 2; AIS: androgen insensitivity syndrome; AMH: antimullerian hormone; AMHR: antimullerian hormone receptor; AR: androgen receptor gene; CAH: congenital adrenal hyperplasia; CAIS: complete AIS; CAH: congenital adrenal hyperplasia; CHH: congenital hypogonadotropic hypogonadism; CXORF6: chromosome X open reading frame 6 gene; CYP19A1: cytochrome P450 family 19 subfamily A member 1 gene; DHT: dihydrotestosterone; DMRT1: double sex and mab-3 related transcription factor 1 gene; DSD: disorders of sexual development; GD: gonadal dysgenesis; HGMD: human gene mutation database; IH: isolated hypospadias; MAMLD1: mastermind like domain containing 1 gene; MIS: mullerian inhibiting substance; NTD: N-terminal domain; OT DSD: ovotesticular DSD; PAIS: partial AIS; SOX9: SRY-related HMG-box 9 gene; SRY: sex-determining region Y gene; STAR: steroidogenic acute regulatory protein gene; SRD5A2: steroid 5 alpha-reductase 2 gene; T DSD: testicular DSD; T: testosterone; WNT4: Wnt family member 4 gene; WT1: Wilms tumor 1 gene; Δ4: androstenedione."
9. Valproic Acid (Depakote)FDA LinkGeneric
10. EstersIBA

Therapies and Procedures

1. Laparotomy
2. Lenses
3. Castration
4. Hormone Replacement Therapy (Therapy, Hormone Replacement)
5. Bioreactors (Bioreactor)