androgen insentivity syndrome
MIM.300068 Xq11-q12
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AIS, Reifenstein’s syndrome, complete androgen insensitivity
Definition: The features of this form of male pseudohermaphroditism are hypospadias, hypogonadism, gynecomastia, normal XY karyotype, and a pedigree pattern consistent with X-linked recessive inheritance. The disorder is caused by mutations in the gene for the androgen receptor (AR) (MIM.313700).
Macroscopical synopsis:
gynecomastia
bifid scrotum
microphallus
hypospadias
male pseudohermaphroditism
hypogonadism
absent vas deferens
Microscopical synopsis:
Leydig cell hyperplasia
hyaline tubular ghosts
mitotic germ cells but no spermatozoa
tumors
- Sertoli cell adenoma
- Ledydig cell adenoma
Etiology:
mutations in the androgen receptor gene (AR - MIM.313700)