Snap Shot A 15 year-old male does not demonstrate any signs of puberty. He is short for his age, his testicles show no evidence of enlargement, his testosterone levels are low, and he has a reduced ability to smell. Introduction Type of congenital hypogonadotropic hypogonadism with associated dysfunction of olfactory bulbs Associated with numerous genes (e.g., KAL1, KAL2, etc.) Failed migration of GnRH producing neurons from developping brain including passage to the cribiform plate Lack of GnRH results in ↓ LH, FSH, testosterone, sperm count Presentation Cases can represent a range of symptoms and severity Non-reproductive features hypogonadotropic hypogonadism anosmia/hyponosmia cleft palate/craniofacial defect urogenital tract abnormalities syndactyly Reproductive features failure to start or fully complete puberty lack of testicle development primaryamenorrhea poorly defined secondary sexual characteristics infertility Treatment Hormone replacement exogenous estrogen in females exogenous testosterone in men Goals of therapy develop secondary sex characteristics build and sustain normal bone and muscle mass fertility