Ovary
Gonadal dysgenesis
Female pseudohermaphroditism-nonadrenal
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: Non adrenal "female pseudohermaphroditism"
Table of Contents
Definition / general | Terminology | Epidemiology | Etiology | Clinical features | Laboratory | Case reports | Additional referencesCite this page: Ghofrani M Female pseudohermaphroditism-nonadrenal. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/ovarynontumorfemalepseudononadrenal.html. Accessed June 5th, 2023.
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
- With luteoma of pregnancy (Hum Reprod 2002;17:821)
Additional references
