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性早熟女童维生素D受体基因多态性的研究进展

Research progress of vitamin D receptor gene polymorphism in precocious girls

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DOI 10.12208/j.ijcr.20230062
刊名
International Journal of Clinical Research
年,卷(期) 2023, 7(2)
作者
作者单位

昆明市第一人民医院儿童生长发育管理中心 云南昆明 ;

摘要
性早熟是儿童常见的性发育异常疾病,可分为中枢性性早熟、外周性性早熟及不完全性性早熟。其中中枢性性早熟是最常见的,是由于下丘脑-垂体-性腺轴过早启动,下丘脑提前分泌和释放促性腺激素的释放激素,激活腺垂体分泌促性腺激素,使性腺增大和活动增强,从而青春期提前启动的疾病。目前性早熟的发病机制,特别是中枢性性早熟仍不明确,可能与基因及环境因素相关。维生素D受体在人体细胞中广泛表达,其基因的多态性也被证实与多种疾病相关,其中性早熟与VDR基因多态性的关系也逐渐受到越来越多的关注。现就性早熟女童维生素D受体基因多态性研究进展进行综述。
Precocious puberty is a common sexual development disorder in children, which can be divided into central precocious puberty, peripheral precocious puberty and incomplete precocious puberty. Among them, central precocious puberty is the most common, which is due to the premature initiation of the hypothalamic-pituitary-gonadal axis, the hypothalamus secretes and releases the releasing hormone of gonadotropin in advance, activates the adenohypophysis to secrete gonadotropin, and makes the gonadotropin enlarged and the activity enhanced, thus the early initiation of puberty. At present, the pathogenesis of precocious puberty, especially central precocious puberty, is still unclear, which may be related to genetic and environmental factors. Vitamin D receptor is widely expressed in human cells, and its gene polymorphism has been proved to be associated with a variety of diseases, among which the relationship between precocious puberty and VDR gene polymorphism has gradually attracted more and more attention. This article summarizes the research progress of vitamin D receptor gene polymorphism in girls with precocious puberty, among which central precocious puberty is the most common disease. Due to the premature initiation of hypothalamic- pituitary-gonadal axis, the hypothalamus secretes and releases gonadotropin releasing hormone in advance, activates the adenohypophysis to secrete gonadotropin, which increases the gonadotropin and enhances the activity of the gonadotropin, and thus the early initiation of puberty. At present, the pathogenesis of precocious puberty, especially central precocious puberty, is still unclear, which may be related to genetic and environmental factors. Vitamin D receptor is widely expressed in human cells, and its gene polymorphism has been proved to be associated with a variety of diseases, among which the relationship between precocious puberty and VDR gene polymorphism has gradually attracted more and more attention. This article reviews the research progress of vitamin D receptor gene polymorphism in girls with precocious puberty.
关键词
性早熟;维生素D受体;基因多态性
Precocious puberty; vitamin D receptor; Gene polymorphism
基金项目
页码 39-43
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