Ovary - nontumor
Gonadal dysgenesis
Pure (complete) gonadal dysgenesis

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

Revised: 13 September 2017, last major update December 2011

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PubMed Search: Pure (complete) gonadal dysgenesis

Cite this page: Ghofrani, M. Pure (complete) gonadal dysgenesis. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/ovarynontumorpuregonadaldysgenesis.html. Accessed November 21st, 2017.
Definition / general
  • Presence of undeveloped (streak) gonads in a phenotypic female who may have an either 46,XX female or 46,XY male genotype
Terminology
  • Term gonadal dysgenesis originally referred to Turner syndrome but it is now applied to other conditions as well
  • Under the new nomenclature, pure (complete) gonadal dysgenesis is considered a type of either 46,XY DSD (disorder of sex development) or 46,XX DSD
Etiology
  • For a variety of reasons, known and unknown, primordial germ cells do not form or interact with the gonadal ridge or undergo accelerated atresia, leading to extremely hypoplastic (underdeveloped) and dysfunctioning gonads that are mainly composed of fibrous tissue, hence the name streak gonads
  • Gonadal dysfunction leads to deficiency of both Müllerian inhibiting factor and testosterone
Clinical features
  • During embryonal development, the human reproductive system has an inherent tendency to give rise to female reproductive organs; therefore, in the absence of hormonal influences from the undeveloped and dysfunctional gonads, patients with complete gonadal dysgenesis are phenotypically female, regardless of genotype
  • First clinical manifestation is usually absence of expected female secondary sex characteristic development at puberty
Microscopic (histologic) description
  • Streak gonads are mainly composed of fibrous tissue
  • Absence of testosterone results in regression of Wolffian ducts; i.e. normal male internal reproductive tracts do not develop
  • Absence of Müllerian inhibiting factor allows Müllerian ducts to differentiate into oviducts and the uterus