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?
(A) Gonadal dysgenesis (B) Kallman syndrome (C) Androgen insensitivity syndrome (D) Adrenal hyperplasia
(A) 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.