一例信号素3A基因突变致特发性低促性腺激素性性腺功能减退症特征分析

A case of idiopathic hypogonadotropic hypogonadism with normal olfactory function caused by a mutation in the semaphorin 3A gene

特发性低促性腺激素性性腺功能减退症(IHH)是一种罕见的遗传性内分泌疾病,由下丘脑促性腺激素释放激素(GnRH)神经元功能受损导致。根据患者是否有嗅觉缺失,IHH可分为卡尔曼综合征(KS)和嗅觉正常的IHH(nIHH)。随着基因测序技术的发展,越来越多与IHH相关的基因被发现。既往研究表明,信号素3A(SEMA3A)突变多导致嗅觉缺失,并影响GnRH神经元的迁移,从而引起IHH。本文报道了1例nIHH患者的基因检测结果存在SEMA3A突变,表明SEMA3A与nIHH存在联系。本文通过此病例,进一步揭示了SEMA3A功能缺失变异在IHH发病机制中的作用,并对IHH的相关背景进行了文献回顾。

Idiopathic hypogonadotropic hypogonadism(IHH)is a rare inherited endocrine disorder caused by impaired function of gonadotropin-releasing hormone(GnRH)neurons in the hypothalamus.Depending on whether patients have anosmia,IHH can be classified into Kallmann syndrome(KS)and normosmic IHH(nIHH).With the development of gene sequencing technology,more and more genes related to IHH have been identified.Previous studies have shown that recombinant semaphorin 3A(SEMA3A)often lead to anosmia and affect the migration of GnRH neurons,thereby causing IHH.This article reports the genetic testing results of an nIHH patient with a SEMA3A mutation,indicating a connection between SEMA3A and nIHH.Through this case,the article further reveals the role of loss-of-function variants of SEMA3A in the pathogenesis of IHH and provides a literature review of the relevant background of IHH.