Ovary
Gonadal dysgenesis
Female pseudohermaphroditism associated with congenital adrenal hyperplasia
Author: Mohiedean Ghofrani, M.D.
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
Table of Contents
Definition / general | Terminology | Epidemiology | Etiology | Diagrams / tables | Clinical features | LaboratoryCite 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
Terminology
- 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)
Epidemiology
- CAH is the most common cause of 46,XX DSD
Etiology
- 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)
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
Laboratory
- 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
