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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
General
gonadal dysgenesis XY
Database Correlations
OMIM 306100
References
UniProt :accession Q05066