95例儿童先天性低促性腺激素性性腺功能减退症的临床及遗传学特征  

Clinical and genetic features of pediatric congenital hypogonadotropic hypogonadism:A case series of 95 children

作　　者：付东霞 陈永兴 吴雪[1] 王会贞[1] 高静[1] 卫海燕[1] Fu Dongxia;Chen Yongxing;Wu Xue;Wang Huizhen;Gao Jing;Wei Haiyan(Department of Endocrinology,Genetics,and Metabolism,Children's Hospital Afiliated to Zhengzhou University,Henan Children's Hospital,Zhengzhou Children's Hospital,Zhengzhou 450000,China)

机构地区：[1]郑州大学附属儿童医院、河南省儿童医院、郑州儿童医院内分泌遗传代谢科,郑州450000

出　　处：《中华内分泌代谢杂志》2024年第11期948-955,共8页Chinese Journal of Endocrinology and Metabolism

摘　　要：目的分析儿童先天性低促性腺激素性性腺功能减退症(congenital hypogonadotropic hypogonadism, CHH)的临床及遗传学特征。方法回顾性分析2016年1月1日至2023年12月31日年郑州大学附属儿童医院内分泌遗传代谢科确诊的0~18岁CHH患者的临床数据, 包括他们的激素水平和基因检测结果等。结果共纳入95例CHH患者, 初诊年龄≤3岁以内25例, 3~14岁37例, 14岁以上33例;主要表现为小阴茎(95例, 100%)、隐睾(46例, 48.5%), >14岁年龄组隐睾发生率最低, 抑制素B、GnRH激发后LH峰值、GnRH激发后FSH峰值、hCG激发后睾酮婴幼儿组最高, 79.2%(61/77)的病例发现了20个CHH相关基因, 双基因突变占7.8%(6/77), 三基因突变占3.9%(3/77)。最常见的突变为FGFR1(18/77, 23.4%)、CHD7(12/77, 15.6%)、PROKR2(11/77, 14.3%)、ANOS1(6/77, 7.8%), 这4种基因型比较隐睾发生率分别是50%、75%、45.5%、83.3%, 睾丸功能不全的发生率分别是22.2%、16.7%、27.3%、16.7%, 差异无统计学意义。结论 CHH主要表现为小阴茎和隐睾。CHH患儿随着年龄增长, 睾丸Leydig细胞和Sertoli细胞功能不全发生率越高。FGFR1、CHD7、PROKR2、ANOS1为CHH常见变异。Objective To analyze clinical and genetic characteristics of congenital hypogonadotropic hypogonadism(CHH)in children.MethodssClinical data of O-18 year old CHH patients diagnosed in the Department of Endocrinology,Genetics and Metabolism of Children's Hospital Affiliated to Zhengzhou University from January 1,2016 to December 31,2023 were retrospectively analyzed,including their hormone levels and genetic test results.Results A total of 95 patients with CHH were included.Among them,25 were diagnosed before the age of 3,37 between the ages of 3-14,and 33 were over 14 years old at the time of first diagnosis.The primary manifestations were micropenis(95 cases,100%)and cryptorchidism(46 cases,48.5%).The incidence of cryptorchidism was the lowest in the group over 14 years of age.Hormonal analysis revealed that the peak levels of LH following statin B and GnRH stimulation,the peak levels of FSH after GnRH stimulation,and testosterone levels following hCG stimulation were the highest in the infant group.Genetic analysis identified 20 CHH-related genes in 61 out of 77 cases.Doublegene mutation accounted for 7.8%(6/77)and triple-gene mutation accounted for 3.9%(3/77).The most common mutations were FGFR1(18/77,23.4%),CHD7(12/77,15.6%),PROKR2(11/77,14.3%)and ANOS1(6/77,7.8%).The incidence of cryptorchidism in these four genotypes was 50%,75%,45.5%and 83.3%,respectively.The incidence of testicular dysfunction was 22.2%,16.7%,27.3%,and 16.7%,respectively,with no statistical significance.Conclusion The primary manifestation of CHH is micropenis and cryptorchidism.In children with CHH,the incidence of testicular Leydig cell and Sertoli cell dysfunction increased with age in CHH children.FGFR1,CHD7,PROKR2 and ANOS1 were common variants of CHH.

关 键 词：先天性低促性腺激素性性腺功能减退症 临床表现 睾丸功能 遗传特征 

分 类 号：R725.8[医药卫生—儿科]