gonadal dysgenesis XY female type; XY female; Swyer syndrome

Pathology

• rapid & early degeneration of the gonads, present in adults as 'streak gonads', consisting mainly of fibrous tissue & variable amounts of ovarian stroma

Genetics

• associated with defects in SRY
• patients are found to have a 46,XY karyotype

Clinical manifestations

• patients do not develop secondary sexual characteristics at puberty
• external genitalia are completely female, & Muellerian structures are normal

More general terms

• gonadal dysgenesis XY

Database

• OMIM: https://mirror.omim.org/entry/306100