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

VernacularTitle: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
Author: Xin PAN ¹ ; Conghui CAO ; Xiaoli WANG ; Yaqiu JIANG
Author Information

1. 中国医科大学附属第一医院内分泌与代谢病科，内分泌研究所，卫生健康委员会（共建）甲状腺疾病诊治重点实验室，沈阳　110001
Keywords: Kallmann syndrome; Gene mutation; PROKR2 gene; WDR11 gene
From: Chinese Journal of Endocrinology and Metabolism 2022;38(2):139-143
CountryChina
Language:Chinese
Abstract: 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.