中国临床医学2024，Vol.31Issue(2)：233-240,8.DOI:10.12025/j.issn.1008-6358.2024.20231247
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
摘要
Abstract
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Key words
CYP17A1/17α-hydroxylase/17,20-lyase deficiency/disorders of sex development/hypertention分类
医药卫生引用本文复制引用
杨海花,卫海燕,王诗琦,黄爱,李杨世玉,李园,张强..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[J].中国临床医学,2024,31(2):233-240,8.基金项目
河南省医学科技攻关计划联合共建项目(LHGJ20210625、LHGJ20210628).Supported by Joint Construction Project of Henan Province Medical Science and Technology Research Program(LHGJ20210625,LHGJ20210628). （LHGJ20210625、LHGJ20210628）
