LHCGR基因复合杂合突变导致小阴茎1例  

A case of micropenis caused by compound heterozygote mutations in luteinizing hormone/choriogonadotropin receptor(LHCGR)

作　　者：杨宇帆 赵亚玲 王曦[1] 聂敏[1] 伍学焱[1] 茅江峰[1] YANG Yu-fan;ZHAO Ya-ling;WANG Xi;NIE Min;WU Xue-yan;MAO Jiang-feng(Department of Endocrine,Peking Union Medical College Hospital,Peking Union Medical College&Chinese Academy of Medical Sciences,Beijing 100730,China)

机构地区：[1]中国医学科学院北京协和医学院北京协和医院内分泌科,北京100730

出　　处：《基础医学与临床》2022年第10期1492-1496,共5页Basic and Clinical Medicine

基　　金：国家自然科学基金(81771576,81971375);北京市自然科学基金(7212080)。

摘　　要：目的通过分析1例促黄体生成素/绒毛膜促性腺激素受体(LHCGR)基因失活突变导致小阴茎的致病基因和临床特点,增加对此疾病的认识。方法收集1例12岁小阴茎患儿的临床表现、生化检验、影像学资料进行分析。抽取患者及其父母外周静脉血,提取基因组DNA,对可疑基因进行性发育障碍Panel检测。使用Mutation Taster、PANTHER等分析软件预测突变位点的致病性。同时对LHCGR失活突变的文献进行复习。结果1)患儿以小阴茎为主要临床表现。2)患儿促性腺激素水平升高,睾酮水平降低。3)患儿及其父母外周血基因检测结果显示,患儿LHCGR存在复合杂合突变(c.233+1G>A和c.547G>A),突变分别来自表型正常的母亲和父亲。突变均为首次报道。4)睾酮治疗效果好,用药后阴茎增大。结论LHCGR基因复合杂合突变导致小阴茎表现,文献罕有报道。本病例扩大了对LHCGR突变致病临床表型和突变谱的认识。Objective To investigate the pathogenic gene mutations and clinical characteristics in a patient with com⁃pound heterozygote gene mutations in luteinizing hormone/choriogonadotropin receptor(LHCGR)gene.Methods Clinical features,laboratory data and radiologic manifestations were collected.The whole exon was sequenced.Patho⁃genicity of the mutations was evaluated by using the Mutation Taster,PANTHER software.The relationship of the splice site mutation and the phenotype of the LHCGR gene was investigated by literature review.Results 1)The pa⁃tient presented with a micropenis.2)The level of gonadotropins was high but level of testosterone was low.3)Com⁃pound heterozygotic mutations including a splicing mutation(c.233+1G>A)and a missense mutation(c.547G>A)were identified in LHCGR gene.Both variations were derived from his parents with normal epitope so it was the first case reported in this familiy.4)The patient had a good response to testosterone therapy.Conclusions LHCGR muta⁃tion may cause micropenis.Our report expands the spectrum of clinical manifestations and mutation of LHCGR gene.

关 键 词：小阴茎 黄体生成素/绒毛膜促性腺激素受体(LHCGR) 剪切位点突变 

分 类 号：R585[医药卫生—内分泌]