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androgen insensitivity

Friday 13 June 2003

Patients have a normal XY karyotype and a pedigree pattern consistent with X-linked recessive inheritance.

Macroscopical synopsis:
- hypospadias
- hypogonadism
- gynecomastia

MicroscoƮcal synopsis:

- immature seminiferous tubules containing Sertoli’s cells and occasional spermatogonia but no spermatogenesis
- Leydig’s cell hyperplasia
- hyaline tubular ghosts
- Sertoli’s cell adenoma (Pick’s adenoma)
- germ cell neoplasm (4-5% before 25, 25-30% after 30): gonadoblastoma, germinoma

Subtypes:

- complete androgen insensitivity (90%)
- incomplete androgen insensitivity (10%)


MIM.300068
MIM.313700