title: Kallmann's syndrome.
abstract: 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.
authors.affiliation: Department of Pediatrics, J.J.M. Medical College, Davangere, Karnataka, India.
authors.forename: M L
authors.initials: ML
authors.lastname: Kulkarni
authors.forename: M D
authors.initials: MD
authors.lastname: Balaji
authors.forename: Akhil M
authors.initials: AM
authors.lastname: Kulkarni
authors.forename: S
authors.initials: S
authors.lastname: Sushanth
authors.forename: Bhagyavathi M
authors.initials: BM
authors.lastname: Kulkarni
mesh_terms: 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*
chemical_list: D013739:Testosterone