继承了促性腺激素荷尔蒙失调。

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詹姆森杰

继承了促性腺激素荷尔蒙失调。

摩尔细胞性。1996年12月20日,125 (2):143 - 9。

PubMed ID

9027352 (在PubMed

]

文摘

继承了垂体促性腺激素的紊乱,LH和FSH,是罕见的。没有共同的alpha-subunit基因的突变。一例FSH的β基因突变已被报道。这种突变包括两个核苷酸缺失造成移码的密码子61 - 86过早终止紧随其后。与这种突变纯合子患者原发性闭经和不孕。血清FSH水平较低和LH水平升高。相对低于正常的FSH和LH和绝经后的杂合的假定是突变FSHβ亚基可能gonadotrope功能受损。只有一个的例子LHβ基因突变被描述。这种情况下在一个男性未能经历青春期,免疫反应性的LH升高,但低生物活性LH和低睾酮。LHβ基因属于CGβ/ LHβ基因簇,位于染色体19问。 No rearrangements or deletions were observed and there was a homozygous substitutions of Gln 54 with Arg. The substituted Gln residue is conserved in each of the glycoprotein hormone beta-subunits. Recombinant mutant LH was expressed in CHO cells and was shown to be immunologically active, but it did not bind to the LH receptor, explaining the absence of bioactivity. This finding suggests that Gln 54 is either a contact site for the receptor or that the mutation alters the conformation of LH to prevent binding to the receptor. The serum LH bio/immuno (B/I) ratio in heterozygotes was 50% of control samples, consistent with normal production and stability of the mutant hormone in vivo. Male heterozygotes exhibited slightly reduced testosterone and only one of four was fertile. Female heterozygotes had regular menses and were fertile. A polymorphic variant of LH has been reported. The variant is prevalent in Finland (24% heterozygotes) and several cases have been reported in Japan. The LH variant consists of two amino acid substitutions (W8R; I15T) that correspond to residues normally found in CG beta. The I15T substitution may introduce a glycosylation site. The variant LH has increased bioactivity, but a reduced serum half-life. It is unclear whether the LH variant is of clinical significance aside from altering immunoactivity in some assays. In addition to gonadotropin mutations, defects in gonadotrope viability (SF-1; DAX-1 mutations) and in GnRH secretion (Kallmann syndrome; SF-1; DAX-1) can also lead to hypogonadotropic hypogonadism (Fig. 1). As noted in other talks, the LH-R and FSH-R are also targets for mutations. Thus, genetic defects have now been identified at each level of the H-P-G axis.

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药物靶点

药物	目标	类	生物	药理作用	行动
Choriogonadotropin阿尔法	促卵泡激素受体	蛋白质	人类	是的	粘结剂	细节