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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.

Definition
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● 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)

Terminology
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● 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

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

Etiology
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● 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
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● First clinical manifestation is usually absence of expected female secondary sex characteristic development at puberty

Treatment
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● Estrogen and progesterone therapy

Micro description (Histopathology)
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● 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
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OMIM 233300, Wikipedia

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


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