androgen insensitivity
testicular feminization
Patients have a normal XY karyotype and a pedigree pattern consistent with X-linked recessive inheritance.
Macroscopical synopsis:
hypospadias
hypogonadism
gynecomastia
Microscoîcal 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
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