androgen insentivity syndrome

Digital case

 Case 30 : androgen insensitivity syndrome

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

 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