Male hypogonadism due to a mutation in the gene for the β-subunit of follicle-stimulating hormone

Male hypogonadism due to a mutation in the gene for the β-subunit of follicle-stimulating hormone
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DOI:
10.1056/nejm199806113382404
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发表时间:
1998-06-11
影响因子:
158.5
通讯作者:
Parvari, R
Parvari, R
中科院分区:
医学1区
文献类型:
--
作者:
Phillip, M;Arbelle, JE;Parvari, R

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正常的青春期发育和生育依赖于下丘脑、垂体和性腺因素复杂的相互作用。在这方面至关重要的是正常的卵泡刺激素和黄体生成素的分泌模式。这些激素刺激女性产生雌激素和排卵,刺激男性产生睾丸激素和精子生成。这些激素由常见的促性腺激素细胞分泌,是由共同的α亚基和特定的β亚基组成的异源二聚体,每个亚基由一个单独的基因编码。作用的特异性取决于性腺细胞表面的特定受体对这些激素的识别。下丘脑-垂体-性腺轴的各种遗传缺陷。
Normal pubertal development and fertility depend on the intricate interplay of hypothalamic, pituitary, and gonadal factors. Crucial in this respect are normal secretory patterns of follicle-stimulating hormone and luteinizing hormone. These hormones stimulate the production of estrogen and ovulation in women and the production of testosterone and spermatogenesis in men. Secreted from common gonadotroph cells, the hormones are heterodimers composed of a common α-subunit and a specific β-subunit, each encoded by a separate gene. Specificity of action depends on the recognition of these hormones by specific receptors on the surface of gonadal cells.Various genetic defects of the hypothalamic–pituitary–gonadal axis . . .