Genotype-phenotype correlations,surgical selections,and postoperative complications of 5α-reductase 2 deficiency in 69 children with hypospadias
作者机构：Department of UrologyBeijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijing 100045China Department of EndocrinologyGeneticsMetabolismBeijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijing 100045China Beijing Key Laboratory for Genetics of Birth DefectsMetabolismBeijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijing 100045China Department of Otolaryngology Head and Neck SurgeryBeijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijing 100045China
出 版 物：《Asian Journal of Andrology》 (亚洲男性学杂志（英文版）)
年 卷 期：2023年第25卷第6期
页 面：731-736页
核心收录：
学科分类：1002[医学-临床医学] 100210[医学-外科学(含：普外、骨外、泌尿外、胸心外、神外、整形、烧伤、野战外)] 10[医学]
基 金：The study was supported by the Foundation of the Paediatric Medical Coordinated Development Center of Beijing Hospitals Authority(XTYB201808) Jin Lei Paediatric Endocrinology Growth Research Fund for Young Physicians(PEGRF No.PEGRF202011034) Beijing Municipal Science and Technology Commission(No.Z201100005520061)
主 题：5α-reductase 2 deficiency disorders of sex development hypospadias
摘 要：5α-reductase 2 deficiency prevents testosterone from being converted to dihydrotestosterone,which causes abnormal urogenital sinus *** aim of this study was to analyze the relationship between genotype–phenotype,surgical selections,and postoperative complications of 5α-reductase 2-deficient patients with *** retrospectively evaluated the medical records of patients who were diagnosed with 5α-reductase 2 deficiency after genetic testing in the Department of Endocrinology and underwent initial hypospadias surgery in the Department of Urology in Beijing Children’s Hospital,Capital Medical University(Beijing,China),from April 2007 to December 2021.A total of 69 patients were included in this study;the mean age at surgery was 34.1 months,and the average follow-up time was 54.1 *** children were treated with preoperative hormone stimulation(PHS)to promote penile *** average penis length and glans width were increased by 1.46 cm and 0.62 cm,*** most frequent mutations were p.R227Q(39.1%,54/138),p.Q6^(*)(15.2%,21/138),p.G203S(12.3%,17/138),and p.R246Q(11.6%,16/138).In 64 patients who were followed up,43 had a one-stage operation and 21 had a staged operation,and there were significant differences in external masculinization score(EMS)(P=0.008)and the average number of operation required to cure(P0.001)between one-stage and staged *** had a positive effect(P0.001)on penile *** p.R227Q mutation was associated with higher EMS and less severe ***-stage surgery can be selected if conditions *** growth and development of children are acceptable in the long term,but penis growth remains *** complications of hypospadias should be considered during puberty.
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