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

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: 46,XX [title] gonadal dysgenesis [title]

Cite this page: Ghofrani, M. Pure (complete) gonadal dysgenesis - 46,XX. PathologyOutlines.com website. http://pathologyoutlines.com/topic/ovarynontumorpuregonadaldysgenesis46XX.html. Accessed November 21st, 2017.
Definition / general
  • Form of gonadal dysgenesis (underdeveloped and dysfunctioning ovaries) associated with female 46,XX genotype and female internal and external phenotype
  • Phenotypic female 46,XX but no functional ovaries are present to induce puberty (may have streak ovaries)
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,XX DSD (disorder of sex development)
  • Perrault syndrome: 46,XX gonadal dysgenesis with sensorineural hearing loss
Etiology
  • May be familial (Am J Med Sci 1980;280:157)
  • Occasionally due to mutation in FSH receptor (Cell 1995;82:959)
  • For reasons that are not clear, primordial germ cells do not form or interact with the gonadal ridge or undergo accelerated atresia
Clinical features
  • First clinical manifestation is usually absence of expected female secondary sex characteristic development at puberty
Laboratory
  • Low serum estrogen and progesterone (since no functional ovaries), high serum FSH and LH
Treatment
  • Estrogen and progesterone therapy
Microscopic (histologic) description
  • Progressive loss of primordial germ cells in the developing gonads of the embryo leads to extremely hypoplastic ovaries mainly composed of fibrous tissue, hence the name streak gonads