儿童期17α-羟化酶/17,20碳链裂解酶缺陷症的临床及遗传学特征  

Clinical and genetic characteristics of 17α-hydroxylase/17,20-lyase deficiency in childhood

作　　者：杨海花[1] 卫海燕[1] 王诗琦 黄爱 李杨世玉 李园[1] 张强 YANG Haihua;WEI Haiyan;WANG Shiqi;HUANG Ai;LI Yangshiyu;LI Yuan;ZHANG Qiang(Dapartment of Endocrinology,Genetics and Metabolism,Children’s Hospital Affiliated to Zhengzhou University,Zhengzhou 450018,Henan,China;Henan Provincial Key Laboratory of Children’s Genetics and Metabolic Diseases,Zhengzhou 450018,Henan,China)

机构地区：[1]郑州大学附属儿童医院内分泌遗传代谢科,郑州450018 [2]河南省儿童遗传代谢性疾病重点实验室,郑州450018

出　　处：《中国临床医学》2024年第2期233-240,共8页Chinese Journal of Clinical Medicine

基　　金：河南省医学科技攻关计划联合共建项目(LHGJ20210625、LHGJ20210628).

摘　　要：目的探讨17α-羟化酶/17,20碳链裂解酶缺陷症(17α-hydroxylase/17,20-lyase deficiency,17OHD)在儿童期的临床及遗传学特征。方法回顾性分析2016年1月至2022年12月在郑州大学附属儿童医院确诊的4例17OHD患儿的临床表现、实验室及影像学检查结果、基因突变特点,并结合文献进行汇总分析。结果4例患儿确诊时,年龄为11月21天至10岁6月;染色体核型均为46,XY;社会性别为男性1例,女性3例;主诉为阴茎短小1例、腹股沟肿块1例、高血压2级2例;彩超检查分别在阴囊、腹股沟、腹股沟内环口发现睾丸3例。4例患儿8点皮质醇、睾酮、雄烯二酮水平均降低,促肾上腺皮质激素、孕酮、促黄体生成素、卵泡刺激素水平均升高,17羟孕酮均正常。3例患儿血钾轻度减低(3.44~3.48 mmol/L)。CYP17A1纯合突变1例,复合杂合突变3例,其中c.563 A>G和c.436+1G>T为未报道过的新突变位点,3例均存在c.985_987delinsAA变异;4例均接受口服氢化可的松治疗。结论外生殖器异常、腹股沟/阴唇包块及高血压是46,XY的17OHD儿童期的主要表现,早期规范治疗可减少并发症,CYP17A1 c.985_987delinsAA变异可能为我国17OHD患儿的热点变异。Objective To explore the clinical and genetic characteristics of 17α-hydroxylase/17,20-lyase deficiency(17OHD)in childhood.Methods The clinical features,laboratory and imaging examination results,gene mutation characteristics of 4 children diagnosed with 17OHD in Children’s Hospital Affiliated to Zhengzhou University from January 2016 to December 2022 were retrospectively analyzed,and the literature was reviewed and summarized.Results At the time of diagnosis,the age of 4 children ranged from 11 months and 21 days to 10 years and 6 months.All patients had karyotypes of 46,XY.Social gender:1 male and 3 females.The chief complaints were 1 case of short penis,1 case of inguinal mass,and 2 cases of grade 2 hypertension,and 3 cases of testes were found in scrotum,groin and inguinal annulus,respectively.The levels of cortisol,testosterone,and androstenedione decreased at 8 o’clock in 4 children,while the levels of adrenocorticotropic hormone,progesterone,luteinizing hormone,and follicle stimulating hormone increased.17 hydroxyprogesterone was normal.Mild decrease in blood potassium levels(3.44-3.48 mmol/L)was found in 3 cases.One case of CYP17A1 homozygous mutation and three cases of compound heterozygous mutation were found,among which c.563 A>G and c.436+1G>T were new mutation sites that had not been reported in the past,and 3 cases had c.985_987delinsAA mutation.All 4 cases received oral hydrocortisone treatment.Conclusions Abnormal external genitalia,inguinal/labial mass and hypertension are the main features of 46,XY type 17OHD in childhood.Early hydrocortisone replacement therapy can effectively prevent the complications of 17OHD.The CYP17A1 c.985_987delinsAA mutation may be a hot topic mutation in children with 17OHD in China.

关 键 词：CYP17A1 17α-羟化酶/17 20碳链裂解酶缺陷症 性发育异常 高血压 

分 类 号：R596[医药卫生—内科学]