A 14 year girl presented with absent thelarche.On examination uterus was present. Investigations showed high FSH. karyotype is XY.What is the probable diagnosis?
High-Yield Explanation
Ans. A. Gonadal dysgenesisRef: Clinical Gynecologic Endocrinoktgt Infeility, 8" ed.Gonadal dysgenesis (Swyer Syndrome):Uncommon form of gonadal dysgenesis, characterized by a 46,XY karyotype.