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KMID : 0648420060110020199
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Journal of Korean Society of Pediatric Endocrinology
2006 Volume.11 No. 2 p.199 ~ p.204
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A Familial Case of Idiopathic Hypogonadotropic Hypogonadism Occurred in a Boy and His Sister
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Yoo Eun-Jung
Kim Kyoung-Sim
Kim Yong-Wook
Yoo Han-Wook
Kim Eun-Young
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Abstract
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Isolated gonadotropin deficiency can be idiopathic or a part of X-linked Kallmann syndrome associated with anosmia. There have been several trials to reveal the genetic mutations that affect gonadotropin secretion, and approximately 10% of sporadic patients have mutations in either gonadotropin releasing hormone receptor (GnRHR) or KAL1 gene. Here we report one familial cases of idiopathic hypogonadotropic hypogonadism occurred in a boy and his elder sister. They presented with delayed puberty and hypoplastic gonads, but normal sense of smell. We performed GnRHR and KAL1 mutation analysis, but could not find any mutation.
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KEYWORD
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Familia, Idiopathic hypogonadotropic hypogonadism, GnRHR, KAL1 mutation analysis
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