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

More general terms

• genetic disease of the urogenital system
• pseudohermaphroditism; indeterminate sex; gynandrism

Database

• OMIM: https://mirror.omim.org/entry/264600