Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, NOCSAE, Via Pietro Giardini 1355, 41126 Modena, Italy ; Center for Genomic Research, University of Modena and Reggio Emilia, Via Giuseppe Campi 187, 41125 Modena, Italy.
Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, NOCSAE, Via Pietro Giardini 1355, 41126 Modena, Italy ; Center for Genomic Research, University of Modena and Reggio Emilia, Via Giuseppe Campi 187, 41125 Modena, Italy ; Azienda USL of Modena, Via San Giovanni del Cantone 23, 41121 Modena, Italy.
Int J Endocrinol. 2014;2014:649154. doi: 10.1155/2014/649154. Epub 2014 Sep 1.
Central hypogonadotropic hypogonadism (CHH) is an emerging pathological condition frequently associated with overweight, metabolic syndrome, diabetes, and midline defects. The genetic mechanisms involve mutations in at least twenty-four genes regulating GnRH neuronal migration, secretion, and activity. So far, the mechanisms underlying CHH, both in prepubertal and in adulthood onset forms, remain unknown in most of the cases. Indeed, all detected gene variants may explain a small proportion of the affected patients (43%), indicating that other genes or epigenetic mechanisms are involved in the onset of CHH. The aim of this review is to summarize the current knowledge on genetic background of CHH, organizing the large amount of data present in the literature in a clear and concise manner, to produce a useful guide available for researchers and clinicians.
中枢性性腺功能减退症（CHH）是一种新兴的病理状况，常与超重、代谢综合征、糖尿病和中线缺陷有关。遗传机制涉及至少 24 个基因的突变，这些基因调节 GnRH 神经元的迁移、分泌和活性。到目前为止，大多数情况下，青春期前和成年发病形式的 CHH 的发病机制尚不清楚。事实上，所有检测到的基因突变只能解释一小部分受影响的患者（43%），这表明其他基因或表观遗传机制也参与了 CHH 的发病。本综述的目的是总结 CHH 的遗传背景的现有知识，以清晰简洁的方式组织文献中的大量数据，为研究人员和临床医生提供有用的指南。
