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Case Reports
. 2007 Dec;74(12):1113-5.
doi: 10.1007/s12098-007-0209-5.

Kallmann's syndrome

M L Kulkarni  1 , M D Balaji, Akhil M Kulkarni, S Sushanth, Bhagyavathi M Kulkarni
Affiliations
Case Reports

Kallmann's syndrome

M L Kulkarni et al. Indian J Pediatr. 2007 Dec.

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.

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References

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