Related MeSH Hierarchy (6)
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Urogenital Abnormalities » Disorders of Sex Development » Disorder of Sex Development, 46,XY » Androgen-Insensitivity Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Genetic Diseases, X-Linked » Androgen-Insensitivity Syndrome
Diseases [C] » Endocrine System Diseases [C19] » Gonadal Disorders » Disorders of Sex Development » Disorder of Sex Development, 46,XY » Androgen-Insensitivity Syndrome
Diseases [C] » Urogenital Diseases [C12] » Female Urogenital Diseases and Pregnancy Complications » Female Urogenital Diseases » Urogenital Abnormalities » Disorders of Sex Development » Disorder of Sex Development, 46,XY » Androgen-Insensitivity Syndrome
Diseases [C] » Urogenital Diseases [C12] » Male Urogenital Diseases » Urogenital Abnormalities » Disorders of Sex Development » Disorder of Sex Development, 46,XY » Androgen-Insensitivity Syndrome
Diseases [C] » Urogenital Diseases [C12] » Urogenital Abnormalities » Disorders of Sex Development » Disorder of Sex Development, 46,XY » Androgen-Insensitivity Syndrome
Description
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. MeSH
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