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).
The complete androgen insensitivity syndrome (CAIS), caused by mutations in the androgen receptor (AR) gene, is associated with abnormal testicular development and an increased risk of germ cell malignancy.
Types
complete androgen insensitivity syndrome (CAIS)
incomplete androgen insensitivity syndrome (IAIS)
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)
References
Testicular development in the complete androgen insensitivity syndrome. Hannema SE, Scott IS, Rajpert-De Meyts E, Skakkebaek NE, Coleman N, Hughes IA. J Pathol. 2006 Mar;208(4):518-27. PMID: 16400621