Kallmann's syndrome.
Kallmann's syndrome is a rare genetic disorder due to abnormal migration of olfactory axons and gonadotropin releasing hormone producing neurons, characterized by hypogonadism and anosmia. The prevalence of Kallmann's syndrome is 1:10,000 to 1:60,000 with a male to female ratio of 5:1. The inheritance of Kallmann's syndrome may be X-linked, autosomal recessive or autosomal dominant with variable penetrance, mutation involving KAL-1 and KAL-2 gene respectively. We report a case of Kallmann's syndrome in a 19-year-old boy with characteristic clinical, biochemical and MRI findings.
Kulkarni
M L
ML
Department of Pediatrics, J.J.M. Medical College, Davangere, Karnataka, India.
Balaji
M D
MD
Kulkarni
Akhil M
AM
Sushanth
S
S
Kulkarni
Bhagyavathi M
BM
D000328:Adult; D004305:Dose-Response Relationship, Drug; D004334:Drug Administration Schedule; D005500:Follow-Up Studies; D006801:Humans; D017436:Kallmann Syndrome / Q000175:diagnosis* / Q000188:drug therapy*; D008297:Male; D012720:Severity of Illness Index; D013739:Testosterone / Q000627:therapeutic use*
D013739:Testosterone