Testis and epididymis
Intersex syndromes
Androgen insensitivity syndrome

Author: Turki Al-Hussain, M.D. (see Authors page)

Revised: 5 April 2017, last major update September 2012

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PubMed Search: Androgen insensitivity syndrome [title]

Cite this page: Androgen insensitivity syndrome. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/testisandrogeninsens.html. Accessed November 17th, 2018.
Definition / general
  • Either XY or XXY
  • Called testicular feminization if complete
  • Most frequent cause of male pseudohermaphroditism
  • Lack of androgen receptor due to mutations in gene on X chromosome
Clinical features
  • Phenotypic female, tall with well formed breasts, absent / scanty pubic and axillary hair, shallow vagina and lack of upper vagina because anti-Müllerian hormone (AMH) causes Müllerian duct regression
  • Patients also have bilateral cryptorchidism with intraabdominal, inguinal or labial testes; usually no Wolffian or Müllerian derivatives
  • Recommend gonadectomy by puberty since associated with germ cell tumors (30% by age 50)
Case reports
Gross description
  • Tanish brown testes with multiple white nodules of Sertoli cells and Wolffian / Müllerian duct cysts at lateral pole of testis
Microscopic (histologic) description
  • Small seminiferous tubules without lumina composed of Sertoli cells only, usually immature, with sparse spermatogonia, marked Leydig cell hyperplasia (often without Reinke crystals), ovarian type stroma; nodules are probably hamartomas of Sertoli cells
Microscopic (histologic) images

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Seminiferous tubules

Absence of lumens