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Kallmann’s syndrome

Research paper by M. L. Kulkarni, M. D. Balaji, Akhil M. Kulkarni, S. Sushanth, Bhagyavathi M. Kulkarni

Indexed on: 19 Jan '08Published on: 19 Jan '08Published in: The Indian Journal of Pediatrics



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.