Ovary - nontumor
Gonadal dysgenesis
Pure (complete) gonadal dysgenesis - 46,XY

Author: Mohiedean Ghofrani, M.D. (see Authors page)

Revised: 13 September 2017, last major update December 2011

Copyright: (c) 2002-2017, PathologyOutlines.com, Inc.

PubMed Search: Gonadal dysgenesis [title] 46,XY [title]

Cite this page: Ghofrani, M. Pure (complete) gonadal dysgenesis - 46,XY. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/ovarynontumorpuregonadaldysgenesis46XY.html. Accessed October 20th, 2017.
Definition / general
  • Form of gonadal dysgenesis (underdeveloped and dysfunctioning testes) associated with male 46,XY genotype and female internal and external phenotype
  • Phenotypic female, hypoplastic (streak) gonads without germ cells
Terminology
  • Term gonadal dysgenesis originally referred to Turner syndrome but it is now applied to other conditions as well
  • Under the new nomenclature, this form of gonadal dysgenesis is considered a type of 46,XY DSD (disorder of sex development)
  • Also called Swyer syndrome
Etiology
  • Mutation in SRY, the sex determining region of the Y chromosome, is reported in 10 - 15%
  • Defects in the genetic pathways that lead to development of testes from indifferent gonads result in hypoplastic (streak) testes and lack of testosterone or anti-Müllerian hormone (AMH) production
Clinical features
  • In the absence of testosterone, external genitalia fail to virilize and the Wolffian ducts fail to develop, leading to normal female genitalia and absent internal male organs
  • Presents with primary amenorrhea (delayed puberty) since no functional gonads are present to induce puberty
  • May develop pubic hair through androgens produced from adrenal gland
Laboratory
  • Low serum estrogen and progesterone, high serum FSH and LH
Prognostic factors
Case reports
Treatment
Microscopic (histologic) description
  • Hypoplastic (streak) gonads without primordial germ cells
  • In the absence of AMH, Müllerian ducts develop into normal internal female organs (uterus, fallopian tubes, cervix, vagina)