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Ovary - nontumor

Gonadal dysgenesis

Pure (complete) gonadal dysgenesis - 46,XX

Reviewer: Mohiedean Ghofrani, M.D, (see Reviewers page)
Revised: 6 June 2012, last major update December 2011
Copyright: (c) 2002-2012, PathologyOutlines.com, Inc.


● A form of gonadal dysgenesis (underdeveloped and dysfunctioning ovaries) associated with female 46,XX genotype and female internal and external phenotype
● Phenotypic female, 46XX, but no functional ovaries are present to induce puberty (may have streak ovaries)


● The 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


● Low serum estrogen and progesterone (since no functional ovaries), high serum FSH and LH


● 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


● Estrogen and progesterone therapy

Micro description (Histopathology)

● 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

Additional references

OMIM 233300, Wikipedia

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

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