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特发性低促性腺激素性性腺功能减退症的遗传学研究进展 被引量：11

Progression of genetic study in idiopathic hypogonadotropic hypogonadism
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摘要 特发性低促性腺激素性性腺功能减退症（idiopathic hypogoandotropic hypogonadism．IHH）是一种复杂的寡基因疾病。其中60％的患者伴嗅觉缺如或减退，又称Kallmann综合征。通过遗传学及分子生物学手段研究，目前已发现十余个IHH的致病基因。 Idiopathic hypogonadotropic hypogonadism（IHH） is a complex oligogenic disease. About 60% of patients are associated with anosmia or hyposmia, also known as Kallmann syndrome. Based on genetic and molecular biological research, about more than ten IHH responsible genes have been discovered.
作者 刘儒雅 李小英
机构地区 上海交通大学医学院附属瑞金医院内分泌代谢病科
出处 《中华内分泌代谢杂志》 CAS CSCD 北大核心 2012年第3期244-248,共5页 Chinese Journal of Endocrinology and Metabolism
关键词 特发性低促性腺激素型性腺功能减退症 遗传学 Idiopathic hypogonadotropic hypogonadism Genetics
分类号 R588 [医药卫生—内分泌]
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参考文献59

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  • 9Ballabio A, Parenti G, Tippett P, et al. X-linked iehthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia) : linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome. Hum Genet, 1986,72:237-240.
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中华内分泌代谢杂志
2012年 第3期

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