Table of ContentsDefinition / general | Terminology | Etiology | Clinical features | Laboratory | Additional references
Cite this page: Ghofrani M Female pseudohermaphroditism. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/ovarynontumorfemalepseudo.html. Accessed June 5th, 2023.
Definition / general
- Disorder of sex development (DSD) with female genotype (46,XX), female internal phenotype (two ovaries) but variable degrees of virilization
- 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"
- Most virilized 46,XX infants have congenital adrenal hyperplasia (CAH)
- Non-CAH etiologies include gestational hyperandrogenism
- 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
- Serum steroid measurements can confirm or rule out congenital adrenal hyperplasia in most 46,XX DSD cases