机构：[1]Center of Endocrinology, Genetics and Metabolism, National Center for Children’s Health, Beijing Children’s Hospital, Capital Medical University, Beijing, China,临床科室职能科室临床流行病与循证医学中心内分泌科首都医科大学附属北京儿童医院[2]Department of Endocrinology, Shenzhen Children’s Hospital, Shenzhen, China,[3]Genetic and Metabolic Central Laboratory, Maternal and Children Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China,[4]Department of Endocrinology, Shanghai Children’s Medical Center, Shanghai Jiao Tong University, Shanghai, China,[5]Department of Endocrinology, Children’s Hospital of Fudan University, Fudan University, Shanghai, China,[6]Department of Endocrinology, Jiangxi Provincial Children’s Hospital, Nanchang, China,[7]Department of Endocrinology, Children’s Hospital of Soochow University, Suzhou, China,[8]Department of Endocrinology, Fuzhou Children’s Hospital, Fuzhou, China,[9]Department of BME, Capital Medical University, Beijing, China
Background: 5 alpha-reductase type 2 deficiency (5 alpha RD) is an autosomal recessive hereditary disease of the group of 46, XY disorders of sex development (DSD). Objective: To study the growth pattern in Chinese pediatric patients with 5 alpha RD. Subjects: Data were obtained from 141 patients with 5 alpha RD (age: 0-16 years old) who visited eight pediatric endocrine centers from January 2010 to December 2017. Methods: In this retrospective cohort study, height, weight, and other relevant data were collected from the multicenter hospital registration database. Baseline luteinizing hormone (LH), follicle stimulating hormone (FSH), testosterone (T), and dihydrotestosterone (DHT) after human chorionic gonadotropin (HCG) stimulation test were measured by enzyme enhanced chemiluminescence assay. Bone age (BA) was assessed using the Greulich-Pyle (G-P) atlas. Growth curve was constructed based on lambda-median-coefficient of variation method (LMS). Results: The height standard deviation scores (HtSDS) and weight standard deviation scores (WtSDS) in 5 alpha RD children were in the normal range as compared to normal boys. Significantly higher HtSDS was observed in patients with 5 alpha RD who were <1 year old (t = 3.658, 2.103, P = 0.002, 0.048, respectively), and higher WtSDS in those < 6 months old (t = 2.756, P = 0.012). Then HtSDS and WtSDS decreased gradually and fluctuated near the median of the same age until 13 years. WtSDS in 5 alpha RD children from northern China were significantly higher than those from the south (Z = -2.670, P = 0.008). The variation tendency of HtSDS in Chinese 5 alpha RDs was consistent with the trend of stimulating T. HtSDS and stimulating T in the external masculinization score (EMS) < 7 group were slightly higher than those in EMS >= 7 group without significant difference. Additionally, the ratio of BA over chronological age (BA/CA) was significantly <1 in children with 5 alpha RD. Conclusion: Children with 5 alpha RD had a special growth pattern that was affected by high levels of T, while DHT played a very small role in it. Their growth accelerated at age <1 year, followed by slowing growth and fluctuating height near normal median boys' height. The BA was delayed in 5 alpha RD children. Androgen treatment, which may be considered anyway for male 5 alpha RD patients with a micropenis, may also be beneficial for growth.
基金：
Public Health Project for Residents in Beijing [Z151100003915103]; National Key Research and Development Program of China [2016YFC0901505]
第一作者机构：[1]Center of Endocrinology, Genetics and Metabolism, National Center for Children’s Health, Beijing Children’s Hospital, Capital Medical University, Beijing, China,[2]Department of Endocrinology, Shenzhen Children’s Hospital, Shenzhen, China,
共同第一作者：
通讯作者：
通讯机构：[1]Center of Endocrinology, Genetics and Metabolism, National Center for Children’s Health, Beijing Children’s Hospital, Capital Medical University, Beijing, China,
推荐引用方式(GB/T 7714)：
Zhao Xiu,Song Yanning,Chen Shaoke,et al.Growth Pattern in Chinese Children With 5 alpha-Reductase Type 2 Deficiency: A Retrospective Multicenter Study[J].FRONTIERS IN PHARMACOLOGY.2019,10:-.doi:10.3389/fphar.2019.00173.
APA：
Zhao, Xiu,Song, Yanning,Chen, Shaoke,Wang, Xiumin,Luo, Feihong...&Gong, Chunxiu.(2019).Growth Pattern in Chinese Children With 5 alpha-Reductase Type 2 Deficiency: A Retrospective Multicenter Study.FRONTIERS IN PHARMACOLOGY,10,
MLA：
Zhao, Xiu,et al."Growth Pattern in Chinese Children With 5 alpha-Reductase Type 2 Deficiency: A Retrospective Multicenter Study".FRONTIERS IN PHARMACOLOGY 10.(2019):-
