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 016 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.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology