Clinical features
At birth, the external genitalia are female while the internal genitalia have a Wolffian (male) configuration. There is an association with congenital inguinal hernias.
During puberty, testosterone-sensitive tissues respond normally, while dihydrotestosterone-sensitive tissues remain relatively atrophic:
- the clitoris enlarges
- pubic, axillary and body hair appears
- the voice deepens
Male pattern baldness does not occur.
Reference
- Cheon CK. Practical approach to steroid 5alpha-reductase type 2 deficiency. Eur J Pediatr. 2011 Jan;170(1):1-8
Related pages
Create an account to add page annotations
Add information to this page that would be handy to have on hand during a consultation, such as a web address or phone number. This information will always be displayed when you visit this page