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Ovary - nontumor

Gonadal dysgenesis

Pure (complete) gonadal dysgenesis


Reviewer: Mohiedean Ghofrani, M.D, (see Reviewers page)
Revised: 28 December 2011, last major update December 2011
Copyright: (c) 2002-2012, PathologyOutlines.com, Inc.

General
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● The presence of undeveloped (streak) gonads in a phenotypic female who may have an either 46,XX female or 46,XY male genotype

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, pure (complete) gonadal dysgenesis is considered a type of either 46,XY DSD (disorder of sex development) or 46,XX DSD

Etiology
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● 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 Mullerian inhibiting factor and testosterone

Clinical features
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● 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

Micro description (Histopathology)
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● 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 Mullerian inhibiting factor allows Mullerian ducts to differentiate into oviducts and the uterus

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


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