Search
pseudovaginal perineoscrotal hypospadias; male pseudohermaphroditism due to 5-alpha-reductase deficiency; familial incomplete male pseudohermaphroditism type 2
Epidemiology: rare
Genetics:
- associated with defects in SRD5A2
Clinical manifestations:
- male pseudohermaphroditism
- affected males develop normal internal urogenital tracts but fail to develop external male structures
- affected males have testicles & tend to have a vagina & labia, but with a small penis capable of ejaculation instead of a clitoris (this penis, however, appears to be a clitoris at birth)
- these individuals are normally raised as girls
- however; at puberty, their testes will descend, their voice will deepen & they often will develop a male sexual identity
- they develop only limited facial hair & will not experience male-pattern baldness
Notes:
- Jeffrey Eugenides won a Pulitzer prize for his 2003 novel 'Middlesex' which describes the life an individual with such a deficiency
General
genetic disease of the urogenital system
pseudohermaphroditism; indeterminate sex; gynandrism
Database Correlations
OMIM 264600
References
OMIM :accession 264600