Gonadal dysgenesis

Female pseudohermaphroditism associated with congenital adrenal hyperplasia

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

Copyright: 2002-2023, PathologyOutlines.com, Inc.

PubMed Search: Female pseudohermaphroditism associated with congenital adrenal hyperplasia

Mohiedean Ghofrani, M.D.
Page views in 2022: 147
Page views in 2023 to date: 58
Cite this page: Ghofrani M. Female pseudohermaphroditism associated with congenital adrenal hyperplasia. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/ovarynontumorfemalepseudocongenital.html. Accessed June 5th, 2023.
Definition / general
  • Most common 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 a defect in the steroid biosynthetic pathway
  • 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)
  • CAH is the most common cause of 46,XX DSD
Diagrams / tables

Images hosted on other servers:

Steroid pathways

Clinical features
  • 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
  • 21 alpha hydroxylase deficiency often leads to hyponatremia, hyperkalemia and hypotension; these patients are at risk for life threatening adrenal crises
  • Serum steroid measurements can confirm or rule out CAH in the vast majority of 46,XX DSD cases
  • 11 beta hydroxylase deficiency and 3 beta hydroxysteroid dehydrogenase deficiency have characteristic serum steroid patterns
Back to top
Image 01 Image 02