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androgen insentivity syndrome

MIM.300068 Xq11-q12

Friday 13 June 2003

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.


- 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


- 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