Mutations affecting gonadotropin secretion and action
Mutations affecting gonadotropin secretion and action
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DOI：
10.1159/000074496
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发表时间：
2003-01-01
期刊：
影响因子：
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通讯作者：
Huhtaniemi, I
中科院分区：
文献类型：
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作者：
Huhtaniemi, I
已知许多突变会干扰下丘脑-垂体-性腺轴的发育和功能。它们在多个水平上影响下丘脑-垂体-性腺功能，从促性腺激素释放激素神经元迁移到下丘脑，一直到卵巢和睾丸中的促性腺激素作用。大多数突变是失活的，导致各种形式的性腺功能减退。黄体生成素受体的激活突变，导致男性限制性促性腺激素非依赖性性性早熟。人类基因突变和转基因动物模型阐明了性腺功能减退症的分子发病机制，现在可以使用分子生物学技术诊断这种疾病，从而能够选择具体的治疗方法，并为患者及其家属提供适当的咨询。版权所有（C）2003 S. Karger AG，巴塞尔。
A number of mutations are known to disturb the development and function of the hypothalamic-pituitary-gonadal axis. They affect hypothalamic-pituitary-gonadal function at multiple levels, from the migration of gonadotropin releasing hormone neurons to the hypothalamus right through to gonadotropin action in the ovary and testis. Most of the mutations are inactivating, causing various forms of hypogonadism. Exceptions are the activating mutations of the luteinizing hormone receptor, causing male-limited gonadotropin-independent precocious puberty. The human mutations and genetically modified animal models have clarified the molecular pathogenesis of hypogonadism and such disorders can now be diagnosed using molecular biological techniques, enabling selection of specific treatments and appropriate counselling of patients and their families. Copyright (C) 2003 S. Karger AG, Basel.