Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE), CONICET - FEI - División de, Endocrinología, Hospital de Niños Ricardo Gutiérrez, C1425EFD, Buenos Aires, Argentina.
Best Pract Res Clin Endocrinol Metab. 2022 Jan;36(1):101599. doi: 10.1016/j.beem.2021.101599. Epub 2021 Nov 10.
The diagnostic suspicion of congenital central hypogonadism is based on clinical signs. Biochemical confirmation is challenging, especially after the postnatal activation stage of the hypothalamic-pituitary-testicular axis. Sertoli cell markers, like AMH and inhibin B, have become useful tools for the diagnosis of male central hypogonadism during childhood. Different mechanisms can participate in the aetiopathogenesis of central hypogonadism, leading to a deficiency in the production of gonadotrophins. Advances in genetic studies, mainly next generation sequencing techniques, have allowed the discovery of a large number of genes related to central hypogonadism. However, a causal variant is found in approximately half of the patients. Central hypogonadism has been classically described as a pathology with variable expressivity and incomplete penetrance. Currently, these characteristics are known to be partially explained by the presence of oligogenicity, that is the participation of variants in more than one gene in the aetiology of central hypogonadism in the same patient.
先天性中枢性性腺功能减退症的诊断依据是临床症状。在经历了下丘脑-垂体-睾丸轴的产后激活阶段后，其生化确诊颇具挑战。在儿童时期，Sertoli 细胞标志物，如 AMH 和抑制素 B，已成为诊断男性中枢性性腺功能减退症的有用工具。不同的机制可能参与中枢性性腺功能减退症的发病机制，导致促性腺激素的产生不足。遗传研究的进展，主要是下一代测序技术，已经允许发现大量与中枢性性腺功能减退症相关的基因。然而，大约一半的患者中发现了一个因果变异。中枢性性腺功能减退症通常被描述为一种表现度和外显率可变、不完全穿透性的疾病。目前，这些特征部分归因于寡基因性，即同一位患者的中枢性性腺功能减退症病因中，一个基因以外的其他基因变异的参与。
