Thursday, July 8, 2010


A 15 year old boy is brought in by his mother because he hasn't had his growth spurt yet. She's worried he's not eating enough. Otherwise, past medical history is significant for deafness and a cleft palate. He is doing well at school, but was told by the school nurse that he has red-green color blindness. On review of systems, you find out that he can't smell anything. On physical exam, you note Tanner stage 2, no body hair, and no increased bulk of muscles. His voice has not deepened. Labs show a low testosterone, LH, and FSH.

Challenge: What's your diagnosis?


tree said...

Kallmann syndrome

Craig Chen said...


This is Kallmann syndrome, a form of congenital hypogonadotropic hypogonadism with a defect in hypothalamic secretion of GnRH.

Source: UpToDate.