Zhao Xiu, Song Yanning, Chen Shaoke, Wang Xiumin, Luo Feihong, Yang Yu, Chen Linqi, Chen Ruimin, Chen Hui, Su Zhe, Wu Di, Gong Chunxiu
Center of Endocrinology, Genetics and Metabolism, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Department of Endocrinology, Shenzhen Children's Hospital, Shenzhen, China.
Front Pharmacol. 2019 Mar 15;10:173. doi: 10.3389/fphar.2019.00173. eCollection 2019.
5α-reductase type 2 deficiency (5αRD) is an autosomal recessive hereditary disease of the group of 46, XY disorders of sex development (DSD).
To study the growth pattern in Chinese pediatric patients with 5αRD.
Data were obtained from 141 patients with 5αRD (age: 0-16 years old) who visited eight pediatric endocrine centers from January 2010 to December 2017.
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 λ-median-coefficient of variation method (LMS).
The height standard deviation scores (HtSDS) and weight standard deviation scores (WtSDS) in 5αRD children were in the normal range as compared to normal boys. Significantly higher HtSDS was observed in patients with 5αRD who were <1 year old ( = 3.658, 2.103, = 0.002, 0.048, respectively), and higher WtSDS in those <6 months old ( = 2.756, = 0.012). Then HtSDS and WtSDS decreased gradually and fluctuated near the median of the same age until 13 years. WtSDS in 5αRD children from northern China were significantly higher than those from the south ( = -2.670, = 0.008). The variation tendency of HtSDS in Chinese 5αRDs 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 5αRD.
Children with 5αRD 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 5αRD children. Androgen treatment, which may be considered anyway for male 5αRD patients with a micropenis, may also be beneficial for growth.
2型5α-还原酶缺乏症（5αRD）是46，XY性发育障碍（DSD）组中的一种常染色体隐性遗传病。
研究中国小儿5αRD患者的生长模式。
数据来自2010年1月至2017年12月间就诊于8个小儿内分泌中心的141例5αRD患者（年龄：0至16岁）。
在这项回顾性队列研究中，从多中心医院登记数据库收集身高、体重及其他相关数据。通过酶增强化学发光法检测人绒毛膜促性腺激素（HCG）刺激试验后的基线促黄体生成素（LH）、促卵泡生成素（FSH）、睾酮（T）和双氢睾酮（DHT）。使用Greulich-Pyle（G-P）图谱评估骨龄（BA）。基于λ-中位数-变异系数法（LMS）构建生长曲线。
与正常男孩相比，5αRD患儿的身高标准差评分（HtSDS）和体重标准差评分（WtSDS）处于正常范围。在年龄<1岁的5αRD患者中观察到显著更高的HtSDS（分别为 = 3.658，2.103， = 0.002，0.048），在年龄<6个月的患者中WtSDS更高（ = 2.756， = 0.012）。然后HtSDS和WtSDS逐渐下降，并在13岁前在同一年龄中位数附近波动。来自中国北方的5αRD患儿的WtSDS显著高于南方的患儿（ = -2.670， = 0.008）。中国5αRD患者中HtSDS的变化趋势与刺激T的趋势一致。外生殖器男性化评分（EMS）<7组中的HtSDS和刺激T略高于EMS≥7组，但无显著差异。此外，5αRD患儿的骨龄与实际年龄之比（BA/CA）显著<1。
5αRD患儿具有特殊的生长模式，受高水平T的影响，而DHT在其中起的作用很小。他们在<1岁时生长加速，随后生长放缓，身高在正常中位男孩身高附近波动。5αRD患儿的骨龄延迟。对于阴茎短小的男性5αRD患者无论如何都可考虑的雄激素治疗，可能对生长也有益。
