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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Genetic Diseases, X-Linked > Androgen-Insensitivity Syndrome
Endocrine System Diseases > Gonadal Disorders > Disorders of Sex Development > Disorder of Sex Development, 46,XY > Androgen-Insensitivity Syndrome
... > Urogenital Diseases > Female Urogenital Diseases and Pregnancy Complications > Female Urogenital Diseases > Urogenital Abnormalities > Disorders of Sex Development > Disorder of Sex Development, 46,XY > Androgen-Insensitivity Syndrome
... > Urogenital Diseases > Male Urogenital Diseases > Urogenital Abnormalities > Disorders of Sex Development > Disorder of Sex Development, 46,XY > Androgen-Insensitivity Syndrome
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Urogenital Abnormalities > Disorders of Sex Development > Disorder of Sex Development, 46,XY > Androgen-Insensitivity Syndrome

Preferred term

Androgen-Insensitivity Syndrome  

Type

  • mesh:Descriptor

Definition

  • 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. A disorder also known as partial androgen insensitivity syndrome (PAIS). These patients exhibit partial resistance to androgenic and metabolic effects of TESTOSTERONE. A disorder also known as complete androgen insensitivity syndrome (CAIS). The 46,XY genetic male totally lacks androgen responsiveness in the target organs thus exhibits a female phenotype.

Broader concept

Entry terms

  • Androgen Insensitivity Syndrome
  • Androgen Resistance Syndrome
  • Male Pseudohermaphroditism Due to Androgen Insensitivity

Allowable Qualifier(s)

In other languages

URI

http://data.loterre.fr/ark:/67375/JVR-VT4SSKPN-R

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