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Definition

A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. Patients manifest rapid and early degeneration of their gonads, which are present in the adult as 'streak gonads', consisting mainly of fibrous tissue and variable amounts of ovarian stroma. As a result these patients do not develop secondary sexual characteristics at puberty. The external genitalia in these subjects are completely female, and Muellerian structures are normal.

Acronym

SRXY1

Synonyms

46,XY gonadal dysgenesis complete SRY-related
46,XY sex reversal SRY-related
46,XY true hermaphroditism SRY-related
Gonadal dysgenesis XY female type
Swyer syndrome
XY females