LHCGR基因突变致家族性男性性早熟3例并文献复习  

3 children with familial male precocious puberty caused by LHCGR gene mutation and the literature review

作　　者：杜一鸣 周巧利[1] 顾威[1] DU Yiming;ZHOU Qiaoli;GU Wei(Children's Hospital Affiliated to Nanjing Medical University,Jiangsu Province,210008)

机构地区：[1]南京医科大学附属儿童医院,210008

出　　处：《中国计划生育学杂志》2023年第4期912-916,共5页Chinese Journal of Family Planning

摘　　要：目的:探讨LHCGR基因突变导致的家族性男性限性性早熟(FMPP)的临床和遗传学特征。方法:回顾性分析本院收治的3例FMPP患儿临床资料和基因突变特点,并进行文献复习。结果:3例患儿均于婴幼儿期出现阴茎增大、阴毛生长和生长加速,分别于4岁、6岁、2.8岁就诊。首诊时,病例1、病例3睾丸容积均为3ml,病例2睾丸容积5ml。3例患儿骨龄明显超前(6岁、13岁、5.5岁)、睾酮水平均升高(8.14 nmol/L、11.32 nmol/L、10.29 nmol/L),促性腺激素释放激素激发试验LH峰值均<5mIU/ml,提示为外周性性早熟。基因检测发现3例患儿均携带LHCGR基因的杂合突变,病例1为c.1730 C>T(p.T577I),来自父亲;病例2为c.1713 G>A(p.M571I),来自母亲;病例3为c.1733 A>T(p.A578V),来自母亲。病例1父亲携带c.1730 C>T杂合突变,有性早熟病史,但其成年身高达到正常遗传身高。儿童治疗药物受限,病例3治疗效果不满意,预测成年终身高偏矮。结论:LHCGR基因突变导致的FMPP主要临床特征是婴幼儿期开始出现外周性性早熟、高睾酮血症,外周性性早熟可转化为中枢性性早熟,治疗困难。FMPP存在不完全显性遗传,临床表型异质性大。Objective:To investigate the clinical and genetic characteristics of children with familial male-limited preco-cious puberty(FMPP)caused by LHCGR gene.Methods:The clinical data and the gene mutation characteristics of 3 children with FMPP were analyzed retrospectively,and the literatures about FMPP were reviewed.Results:All 3 chil-dren with FMPP had presented as the enlargement of penis and had presented as the growth and accelerated growth of the pubes in infancy,and who had visited doctors at the ageof 4,6,or 2.8 years old,respectively.During the first vis-iting the doctor,the testicular volume was 3 ml in both case 1 and case 3,and was 5 ml in case 2.The bone age of 3 children had significantly advanced,which presented 6,13 and 5.5 years old,respectively.The testosterone levels of 3.children were 8.14nmol/L,11.32nmol/L,and 10.29nmol/L,respectively,which had elevated abnormally.The gona-dotropin-releasing hormone stimulation test showed that the LH peak of 3 children were all<5mIU/ml,which sug-gested that there was peripheral precocious puberty in the 3 children.Genetic testing revealed that all 3 children carried heterozygous mutations in the LHCGR gene,including case 1 with c.1730 C>T(p.T577I)from his father,case 2 with c.1713 G>A(p.M571D) from his mother,and case 3 with c.1733 A>T(p.A578V)from his mother.The father of case 1 carried c.1730 C>T heterozygous mutation with a history of precocious puberty,but his adult height reached the normal genetic height.The treatment drugs for children with FMPP were limited,case 3 had no satisfactory thera-peutic effect and the prediction of his adult height would short.Conclusion:The main clinical characteristics of the chil-dren with FMPP caused by LHCGR gene mutation are peripheral precocious puberty beginning in infancy and high tes-totoxicosis.The peripheral precocious puberty of these children maybe transform into central precocious puberty,which is more difficult to treat.There is an incomplete dominant inheritance of FMPP of the children,so the clinical phenotype

关 键 词：家族性男性限性性早熟 LHRH基因 遗传学特征 临床特征 

分 类 号：R725.8[医药卫生—儿科]