androgen insensitivity syndrome

info · Endocrine · ICD-10: E34.5

A disorder of sexual development that is characterized by the inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup.

Signs and symptoms

Labial hypoplasia
Neoplasm
Inguinal hernia
Gynecomastia
Absent facial hair
Elevated circulating luteinizing hormone level
Blind vagina
Growth abnormality
Elevated circulating follicle stimulating hormone level
Female external genitalia in individual with 46,XY karyotype

Also known as: Androgen resistance syndrome; Androgen-Insensitivity Syndrome; Feminisation - testicular; Goldberg - Maxwell syndrome; Goldberg-Maxwell syndrome