Kokoreva K D, Chugunov I S, Bezlepkina O B
Endocrinology Research Centre.
Probl Endokrinol (Mosk). 2021 Aug 6;67(4):46-56. doi: 10.14341/probl12787.
Congenital isolated hypogonadotropic hypogonadism includes a group of diseases related to the defects of secretion and action of gonadotropin-releasing hormone (GNRH) and gonadotropins. In a half of cases congenital hypogonadism is associated with an impaired sense of smell. It's named Kallmann syndrome. Now 40 genes are known to be associated with function of hypothalamus pituitary gland and gonads. Phenotypic features of hypogonadism and therapy effectiveness are related to different molecular defects. However clinical signs may vary even within the same family with the same molecular genetic defect. Genotype phenotype correlation in patients with congenital malformations prioritizes the search for mutations in candidate genes. There are data of significant contribution of oligogenicity into the phenotype of the disease are presented in the review. Moreover, an issue of current isolated hypogonadotropic hypogonadism definition and classification revision is raised in the review due to hypogonadotropic hypogonadism development while there are mutations in genes not associated with GNRH neurons secretion and function.
先天性孤立性低促性腺激素性性腺功能减退症包括一组与促性腺激素释放激素（GnRH）和促性腺激素分泌及作用缺陷相关的疾病。在半数病例中，先天性性腺功能减退与嗅觉减退有关。该病被称为卡尔曼综合征。目前已知有40种基因与下丘脑 - 垂体 - 性腺轴功能相关。性腺功能减退的表型特征及治疗效果与不同的分子缺陷有关。然而，即使在具有相同分子遗传缺陷的同一家族中，临床症状也可能有所不同。先天性畸形患者的基因型 - 表型相关性有助于优先在候选基因中寻找突变。综述中呈现了关于寡基因性对疾病表型有显著影响的数据。此外，由于在与GnRH神经元分泌和功能无关的基因发生突变时出现了低促性腺激素性性腺功能减退，综述中还提出了当前孤立性低促性腺激素性性腺功能减退症定义和分类修订的问题。
