androgen insentivity syndrome
Friday 13 June 2003
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.
complete androgen insensitivity syndrome (CAIS)
incomplete androgen insensitivity syndrome (IAIS)
absent vas deferens
Leydig cell hyperplasia
hyaline tubular ghosts
mitotic germ cells but no spermatozoa
- Sertoli cell adenoma
- Ledydig cell adenoma
mutations in the androgen receptor gene (AR - MIM.313700)
Detection of Y-chromosome in gonadal tumours using fluorescence in situ hybridization: diagnostic value in intersex conditions including older patients with clinically unsuspected androgen insensitivity syndrome. Stewart CJ, Baker E, Beaton C, Crook M, Peverall J, Wallace S. Histopathology. 2008 Jan;52(2):175-82. PMID: 18184266
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