Gonadal dysgenesis
Female pseudohermaphroditism associated with congenital adrenal hyperplasia

Topic Completed: 1 December 2011

Minor changes: 5 May 2020

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PubMed Search: Female pseudohermaphroditism associated with congenital adrenal hyperplasia

Mohiedean Ghofrani, M.D.
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Cite this page: Ghofrani M. Female pseudohermaphroditism associated with congenital adrenal hyperplasia. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/ovarynontumorfemalepseudocongenital.html. Accessed August 3rd, 2020.
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

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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
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