Growth Pattern in Chinese Children With 5?-Reductase Type 2 Deficiency: A Retrospective Multicenter Study.
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ABSTRACT: Background:5?-reductase type 2 deficiency (5?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?RD. Subjects:Data were obtained from 141 patients with 5?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 ?-median-coefficient of variation method (LMS). Results:The height standard deviation scores (HtSDS) and weight standard deviation scores (WtSDS) in 5?RD children were in the normal range as compared to normal boys. Significantly higher HtSDS was observed in patients with 5?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?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?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?RD. Conclusion:Children with 5?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?RD children. Androgen treatment, which may be considered anyway for male 5?RD patients with a micropenis, may also be beneficial for growth.
SUBMITTER: Zhao X
PROVIDER: S-EPMC6429988 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
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