双基因突变导致的卡尔曼综合征一例病例报道及文献回顾

Digenic inheritance of PROKR2 and WDR11 mutations in Kallmann syndrome—A case report and literature review

卡尔曼综合征(Kallmann syndrome,KS)是特发性低促性腺性性腺功能减退症(idiopathic hypogonadotropic hypogonadism,IHH)的一种亚型,表现为青春期发育延迟,第二性征不发育,伴随嗅觉减退或消失。目前已发现超过40个基因与IHH的发病有关,而且还不断有新的基因位点被发现,同时,双基因突变或寡基因突变被认为是IHH的重要致病机制。不同基因突变导致的KS/IHH的临床表型复杂多样,对治疗的反应也各异。本文报道1例由WDR11和PROKR2基因的复合双基因杂合突变导致的KS的临床资料和治疗经过,其中PROKR2基因是经典的KS致病基因,而WDR11基因是KS致病基因中较新的类型,本文回顾总结了文献中携带WDR11基因突变的病例特点。

Kallmann syndrome(KS)is a subtype of idiopathic hypogonadotropic hypogonadism(IHH),characterized by delayed puberty,undeveloped secondary sexual characters,accompanied by anosmia,or hyposmia.At present,more than 40 genes are related to the pathogenesis of IHH,and new gene loci have been found continuously.At the same time,digenic gene mutation or oligogenic mutation is considered to be an important pathogenic mechanism of IHH.The clinical phenotype of KS/IHH caused by different gene mutations is complex and diverse,and the response to treatment is also variable.This paper presents the clinical data and treatment of a case of KS caused by a compound double heterozygous mutation of WDR11 and PROKR2 genes.PROKR2 gene is a classic KS pathogenic gene,while the WDR11 gene is a relatively new type of KS pathogenic gene.Included with this case report is a literature review of characteristics of cases with WDR11 gene mutation.