Kallmann’s syndrome

被引:0
|
作者
M. L. Kulkarni
M. D. Balaji
Akhil M. Kulkarni
S. Sushanth
Bhagyavathi M. Kulkarni
机构
[1] J.J.M. Medical College,Department of Pediatrics
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关键词
Kallmann syndrome; KAL-1 gene; Olfactory bulb hypoplasia;
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摘要
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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页码:1113 / 1115
页数:2
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