Gonadal dysgenesis

Female pseudohermaphroditism-nonadrenal

Last author update: 1 December 2011
Last staff update: 14 October 2020

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PubMed Search: Non adrenal "female pseudohermaphroditism"

Mohiedean Ghofrani, M.D.
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Cite this page: Ghofrani M Female pseudohermaphroditism-nonadrenal. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/ovarynontumorfemalepseudononadrenal.html. Accessed June 5th, 2023.
Definition / general
  • Rarer form of female pseudohermaphroditism in which a female genotype (46,XX) and female internal phenotype (two ovaries) is associated with variable degrees of virilization due to etiologies other than congenital adrenal hyperplasia, including gestational hyperandrogenism (maternal exposure to progestins or androgens)
  • 46,XX Barr bodies are chromatin positive
  • Ovary with female ducts and variable virilized external genitalia
  • In 2006, the International Consensus Conference on Intersex recommended using the designation "46,XX DSD" to replace the potentially pejorative and confusing term female "pseudohermaphroditism" (Pediatrics 2006;118:e488)
  • Gestational hyperandrogenism is a rarer cause of 46,XX DSD
  • May be due to exposure to maternal androgen (maternal luteoma, theca lutein cysts, placental aromatase enzyme deficiency) or synthetic progestational agents
Clinical features
  • Diagnosis may be suggested by history of exposure to exogenous progestin or androgen or maternal virilization
  • 17 ketosteroids and estrogen levels are normal
Case reports
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