Introduction
- Mismatch in sex between the external genitalia and gonads (testes/ovaries)
- named based on the genotype present
- Female pseudohermaphrodite (XX)
- most commonly seen in
- congenital adrenal hyperplasia
- exogenous administration of androgens during pregnancy
- most commonly seen in
- Male pseudohermaphrodite (XY)
- due to decreased effective testosterone concentration
- most commonly due to androgen insensitivity syndrome
- aka testicular feminization
Presentation
- Physical exam
- female pseudohermaphrodite (XX)
- ovaries present
- external genitalia is virilized or ambiguous
- male pseudohermaphrodite (XY)
- testes present
- external genitalia is female or ambiguous
- female pseudohermaphrodite (XX)