Ovary
Disorders of sex development
46XX DSD
Author: Mohiedean Ghofrani, M.D.
Last author update: 1 November 2011
Last staff update: 15 January 2024
Copyright: 2002-2024, PathologyOutlines.com, Inc.
PubMed Search: 46XX DSD
Table of Contents
Female pseudohermaphroditism | Female pseudohermaphroditism associated with congenital adrenal hyperplasia | Female pseudohermaphroditism-nonadrenalCite this page: Ghofrani M 46XX DSD. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/ovarynontumor46XXDSD.html. Accessed May 8th, 2024.
Female pseudohermaphroditism
Definition / general
Terminology
Etiology
Clinical features
Laboratory
Additional references
- Disorder of sex development (DSD) with female genotype (46,XX), female internal phenotype (2 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
Female pseudohermaphroditism associated with congenital adrenal hyperplasia
Definition / general
Terminology
Epidemiology
Etiology
Diagrams / tables
Images hosted on other servers:
Clinical features
Laboratory
- 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
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
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
Female pseudohermaphroditism-nonadrenal
Definition / general
Terminology
Epidemiology
Etiology
Clinical features
Laboratory
Case reports
Additional references
- Rarer 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 etiologies other than congenital adrenal hyperplasia, including gestational hyperandrogenism (maternal exposure to progestins or androgens)
- 46,XX Barr bodies are chromatin positive
- Ovary with female ducts and variable virilized external genitalia
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
- Gestational hyperandrogenism is a rarer cause of 46,XX DSD
Etiology
- May be due to exposure to maternal androgen (maternal luteoma, theca lutein cysts, placental aromatase enzyme deficiency) or synthetic progestational agents
Clinical features
- Diagnosis may be suggested by history of exposure to exogenous progestin or androgen or maternal virilization
Laboratory
- 17 ketosteroids and estrogen levels are normal
Case reports
- With luteoma of pregnancy (Hum Reprod 2002;17:821)
Additional references
