Ovary

Disorders of sex development

46XX DSD



Last author update: 1 November 2011
Last staff update: 15 January 2024

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PubMed Search: 46XX DSD

Mohiedean Ghofrani, M.D.
Cite this page: Ghofrani M 46XX DSD. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/ovarynontumor46XXDSD.html. Accessed December 25th, 2024.
Female pseudohermaphroditism
Definition / general
  • 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
  • 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

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
Female pseudohermaphroditism-nonadrenal
Definition / general
  • 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

Additional references
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