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Ovary - nontumor

Gonadal dysgenesis

Pure (complete) gonadal dysgenesis – 46XY


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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● A form of gonadal dysgenesis (underdeveloped and dysfunctioning testes) associated with male 46,XY genotype and female internal and external phenotype
● Phenotypic female, hypoplastic (streak) gonads without germ cells

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,XY DSD (disorder of sex development)
● Also called Swyer syndrome

Laboratory
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● Low serum estrogen and progesterone, high serum FSH and LH

Etiology
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● Mutation in SRY, the sex-determining region of the Y chromosome, is reported in 10-15%
● Defects in the genetic pathways that lead to development of testes from indifferent gonads result in hypoplastic (streak) testes and lack of testosterone or antimüllerian hormone (AMH) production

Clinical features
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● In the absence of testosterone, external genitalia fail to virilize and the wolffian ducts fail to develop, leading to normal female genitalia and absent internal male organs
● Presents with primary amenorrhea (delayed puberty), since no functional gonads are present to induce puberty
● May develop pubic hair through androgens produced from adrenal gland

Prognostic factors
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● High risk of gonadoblastoma or germ cell tumor from gonads (Zhonghua Fu Chan Ke Za Zhi 2008;43:442)
● Dysgerminoma may develop by age 10 (BJOG 2008;115:737)

Case reports
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● Successful pregnancy using donor oocytes and oocyte transfer (Fertil Steril 2008;90:2015.e1)

Treatment
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● Early excision of gonads (J Gynecol Obstet Biol Reprod (Paris) 2009;38:220)
● Estrogen and progesterone therapy

Micro description (Histopathology)
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● Hypoplastic (streak) gonads without primordial germ cells
● In the absence of AMH, Müllerian ducts develop into normal internal female organs (uterus, fallopian tubes, cervix, vagina)

Diagrams
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Normal embryologic development

Additional references
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OMIM 400044, Gene Reviews

End of Ovary - nontumor > Gonadal dysgenesis > Pure (complete) gonadal dysgenesis – 46XY


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