ESPE Abstracts (2018) 89 P-P2-338

Physical Assessment in Chinese Children with 5a-reductase Type 2 Deficiency

Xiu Zhaoa,b, Yanning Songb, Shaoke Chenc, Xiumin Wangd, Feihong Luoe, Yu Yangf, Linqi Cheng, Ruimin Chenh, Hui Cheni, Zhe Sua, Di Wub & Chunxiu Gongb

aShenzhen Children’s Hospital, Shenzhen, China; bBeijing Children’s Hospital, Capital Medical University, Beijing, China; cMaternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China; dShanghai Children’s Medical Center, Shanghai, China; eChildren’s Hospital of Fudan University, Shanghai, China; fJiangxi Provincial Children’s Hospital, Nanchang, China; gChildren’s Hospital of Soochow University, Soochow, China; hFuzhou Children’s Hospital, Fuzhou, China; iCapital Medicine University, Beijing, China

Background: 5α - reductase type 2 deficiency (5αRD) is an autosomal recessive hereditary disease which has an incidence of 11.2%–15.5% among population with 46, XY DSD (disorders of sex development).

Objective: To study the growth pattern in Chinese pediatric patients with 5αRD.

Subjects: Data were from 187 patients with 5αRD (age from 0–16 years old,with homozygous or compound heterozygous mutations in the SRD5A2 gene) who visited 8 pediatric endocrine centers from Jan, 2010 to Dec, 2017. Children with 46, XY DSD without hormone treatment and those with testicular dysfunction were also selected as a positive control group.

Methods: Height, weight and other relevant data were collected from the multicenter hospital registration database. Hormone was tested by enzyme enhanced chemiluminescence assay; BA was assessed by G-P. Growth curve was constructed based on λ-median-coefficient of variation method (LMS).

Results: Compared to normal boys, higher height standard deviation scores (HtSDS) were observed in 5αRD children who were <1-year-old (P=0.002, 0.048, respectively), and higher weight standard deviation scores (WtSDS) in those < 6-month-old (P=0.012). Then HtSDS and WtSDS showed lower than those of normal boys of the same age when > 2-year-old. Furthermore, compared to testicular dysfunction 46, XY DSD, the HtSDS in 5αRDs was significantly higher (P=0.003),while WtSDS was lower in 5αRD patients without significant difference. Additionally, the ratio of bone age over chronological age (BA/CA) was lower than 1 in children with 5αRD and with testicular dysfunction 46, XY DSD.

Conclusion: The children with 5αRD had a special growth pattern. Their body length was longer in 0~5 months group, and then its growing slowed down leaving children shorter than normal boys after the age of 2 years old. The bone age was delayed in 5αRD children. This may provide a chance for androgens treatment in young age 5αRD boys for their micropenis.