Ovary

Gonadal dysgenesis

Testicular feminization



Topic Completed: 1 December 2011

Minor changes: 14 October 2020

Copyright: 2002-2021, PathologyOutlines.com, Inc.

PubMed Search: "Testicular feminization" ovary

Mohiedean Ghofrani, M.D.
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Cite this page: Ghofrani M. Testicular feminization. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/ovarynontumortesticularfeminization.html. Accessed October 16th, 2021.
Definition / general
  • Male genotype (46,XY) but impaired or absent masculinization of male genitalia or development of male secondary sexual characteristics at puberty due to partial or complete inability of cells to respond to androgens (androgen insensitivity)
  • Most common type of male pseudohermaphroditism
  • Patients present with amenorrhea or sterility
  • Vagina but no uterus
  • Also, bilateral cryptorchid testes with nodular masses of immature tubules resembling Sertoli-Leydig tumor
Terminology
  • Also called androgen insensitivity syndrome (AIS)
  • Divided into three categories:
    • Complete androgen insensitivity syndrome (CAIS): normal female external genitalia
    • Mild androgen insensitivity syndrome (MAIS): normal male external genitalia
    • Partial androgen insensitivity syndrome (PAIS): partially but not fully masculinized external genitalia
Etiology
  • Most commonly, a mutation in the androgen receptor (AR) gene
  • Other etiologies include: chromosomal abnormalities, dysfunctional androgen biosynthesis, developmental syndromes, teratogens
Clinical features
  • Depending on the severity of androgen insensitivity, patients may present with male, female or ambiguous phenotype
  • Given the presence of a Y chromosome (more specifically, SRY gene), gonads are testes regardless of phenotype
  • Physical exam may reveal a vagina but no ovaries or uterus
Prognostic factors
  • 9% develop tumors in cryptorchid testis, which should be removed after puberty
Case reports
Treatment
  • Currently limited to symptomatic management, including sex assignment, genitoplasty, gonadectomy, hormone replacement, counseling
Gross images

AFIP images

Multiple hamartomas

Microscopic (histologic) description
  • Bilateral cryptorchid testes with nodular masses of immature tubules resembling Sertoli-Leydig tumor
Microscopic (histologic) images

AFIP images

Ovarian type
stroma with a
storiform pattern

Tubules containing
immature
Sertoli cells

Testis is composed
almost entirely of
stroma resembling
ovarian stroma

Hamartomas are
composed of Sertoli
and Leydig cells

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