Kallmann's syndrome.

Kulkarni, M L; Balaji, M D; Kulkarni, Akhil M; Sushanth, S; Kulkarni, Bhagyavathi M

Kallmann's syndrome.

Date

2007-12-05

Authors

Kulkarni, Bhagyavathi M

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.

Citation

Kulkarni ML, Balaji MD, Kulkarni AM, Sushanth S, Kulkarni BM. Kallmann's syndrome. Indian Journal of Pediatrics. 2007 Dec; 74(12): 1113-5

URI

https://imsear.searo.who.int/handle/123456789/79694

Collections

Indian Journal of Pediatrics

Full item page