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Ovary - nontumor

Gonadal dysgenesis

Female pseudohermaphroditism associated with congenital adrenal hyperplasia

Reviewer: Mohiedean Ghofrani, M.D., (see Reviewers page)
Revised: 28 December 2011, last major update December 2011
Copyright: (c) 2002-2012, PathologyOutlines.com, Inc.


● The 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)


● 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


● CAH is the most common cause of 46,XX DSD


● CAH is usually due to 21-alpha-hydroxylase or 11-beta-hydroxylase deficiency
● There are also other rare mutations (Arg Bras Endocrinol Metabol 2005;49:126)
● Partial 17-alpha-hydroxylase/17,20-lyase deficiency (Gynecol Endocrinol 2008;24:362)

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


Steroid pathways

End of Ovary - nontumor > Gonadal dysgenesis > Female pseudohermaphroditism associated with congenital adrenal hyperplasia

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