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?
Gonadal dysgenesis
Kallman syndrome
Androgen insensitivity syndrome
Adrenal hyperplasia
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.