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.

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

Urogenital Diseases: 126
- Urogenital Abnormalities: 76
  - Disorders of Sex Development: 730
    - 46,XY Disorder of Sex Development: 472
      - Androgen-Insensitivity Syndrome: 1117
- Female Urogenital Diseases and Pregnancy Complications
  - Female Urogenital Diseases
    - Urogenital Abnormalities: 76
      - Disorders of Sex Development: 730
        46,XY Disorder of Sex Development: 472
        Androgen-Insensitivity Syndrome: 1117
- Male Urogenital Diseases
  - Urogenital Abnormalities: 76
    - Disorders of Sex Development: 730
      - 46,XY Disorder of Sex Development: 472
        Androgen-Insensitivity Syndrome: 1117
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Urogenital Abnormalities: 76
    - Disorders of Sex Development: 730
      - 46,XY Disorder of Sex Development: 472
        Androgen-Insensitivity Syndrome: 1117
- Inborn Genetic Diseases: 11939
  - X-Linked Genetic Diseases: 42
    - Androgen-Insensitivity Syndrome: 1117
Endocrine System Diseases: 968
- Gonadal Disorders: 30
  - Disorders of Sex Development: 730
    - 46,XY Disorder of Sex Development: 472
      - Androgen-Insensitivity Syndrome: 1117

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