A 20 yr old female presents with primary amenorrhea. She has low LH, FSH, estrodial levels. She has anosmia and no secondary sex characteristics on examination. What is the likely diagnosis?
High-Yield Explanation
Kallmann syndrome Kallmann syndrome is caused from defective gonadotropin releasing hormone (GnRH) synthesis. Clinical features- Anaemia & hyposmia due to olfactory bulb agenesis & hypophasia. Color blindness, optic atrophy, nerve deafness. Cleft palate, cryptoorchidism & mirror movements (neurological defects) In males- delayed pubey, micropenis. In females- primary amenorrhea, failure of secondary sexual development. Low LH & FSH levels & sex steroids.