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


Topic Completed: 1 December 2011

Revised: 5 February 2019

Copyright: (c) 2002-2019, PathologyOutlines.com, Inc.

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

Mohiedean Ghofrani, M.D.
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Cite this page: Ghofrani M Pure (complete) gonadal dysgenesis - 46,XX. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/ovarynontumorpuregonadaldysgenesis46XX.html. Accessed September 23rd, 2019.
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
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