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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Kulkarni, M.L., Balaji, M.D., Kulkarni, A.M. et al. Kallmann’s syndrome. Indian J Pediatr 74, 1113–1115 (2007). https://doi.org/10.1007/s12098-007-0209-5
- Kallmann syndrome
- KAL-1 gene
- Olfactory bulb hypoplasia