male pseudohermaphrodism with gynecomastia

Genetics

• associated with defects in HSD17B3 gene

Clinical manifestations

• unambiguous female external genitalia at birth
• fail to menstruate at the time of expected puberty
• virilization with growth of phallus
• breast development may or may not take place

More general terms

• genetic syndrome (multisystem disorder)

Additional terms

• 17 beta-hydroxysteroid dehydrogenase-3 [testicular] (estradiol 17 beta-dehydrogenase 3, HSD17B3)

Database

• OMIM: https://mirror.omim.org/entry/264300