Ovary
Gonadal dysgenesis
Female pseudohermaphroditism
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" ovary
Table of Contents
Definition / general | Terminology | Etiology | Clinical features | Laboratory | Additional referencesCite 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
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
