Ovary - nontumor
Gonadal dysgenesis
Female pseudohermaphroditism

Author: Mohiedean Ghofrani, M.D. (see Authors page)

Revised: 14 September 2017, last major update December 2011

Copyright: (c) 2002-2017, PathologyOutlines.com, Inc.

PubMed Search: "Female pseudohermaphroditism" ovary

Cite this page: Ghofrani, M. Female pseudohermaphroditism. PathologyOutlines.com website. http://pathologyoutlines.com/topic/ovarynontumorfemalepseudo.html. Accessed October 20th, 2017.
Definition / general
  • Disorder of sex development (DSD) with female genotype (46,XX), female internal phenotype (two ovaries) but variable degrees of virilization
Terminology
  • 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"
Etiology
  • 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
Laboratory
  • Serum steroid measurements can confirm or rule out congenital adrenal hyperplasia in most 46,XX DSD cases
Additional references