Gonadal dysgenesis

Female pseudohermaphroditism

Topic Completed: 1 December 2011

Minor changes: 14 October 2020

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PubMed Search: "Female pseudohermaphroditism" ovary

Mohiedean Ghofrani, M.D.
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Cite this page: Ghofrani M Female pseudohermaphroditism. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/ovarynontumorfemalepseudo.html. Accessed October 21st, 2021.
Definition / general
  • Disorder of sex development (DSD) with female genotype (46,XX), female internal phenotype (two ovaries) but variable degrees of virilization
  • In 2006 the International Consensus Conference on Intersex recommended using the designation "46,XX DSD" instead of the potentially pejorative and confusing term "female pseudohermaphroditism"
  • Most virilized 46,XX infants have congenital adrenal hyperplasia (CAH)
  • Non-CAH etiologies include gestational hyperandrogenism
Clinical features
  • In CAH, depending on the site of the steroid biosynthesis defect, there may be under or overproduction of mineralcorticoid, resulting in imbalances in serum electrolytes and blood pressure
  • Serum steroid measurements can confirm or rule out congenital adrenal hyperplasia in most 46,XX DSD cases
Additional references
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