partial androgen insensitivity (Reifenstein syndrome)

Genetics

• X-linked recessive inheritance
• associated with defects in androgen receptor

Clinical manifestations

• male pseudohermaphroditism
• hypospadias
• hypogonadism
• gynecomastia

More general terms

• androgen insensitivity
• syndrome
• pseudohermaphroditism; indeterminate sex; gynandrism
• X-linked disease

Database

• OMIM: https://mirror.omim.org/entry/312300