Physical assessment and reference growth curves for children with 46, XY disorders of sex development

IMPORTANCE: Impaired growth is an important factor in patients with disorders of sex development (DSD). OBJECTIVE: To profile the growth of children with 46, XY DSD. METHODS: We compared heights between 46, XY DSD children and normal boys and obtained growth curves for DSD using the λ‐median coefficient of variation method. The study subjects were categorized into groups with good response and poor response to the human chorionic gonadotrophin (HCG) test according to testosterone levels and were compared height standard deviation scores (HtSDS) with normal boys. RESULTS: A total of 571 children with noncongenital adrenal hyperplasia (CAH) 46, XY DSD were enrolled in this study. The overall HtSDS for the DSD subjects were −0.031 ± 1.202. The HtSDS of DSD boys were lower than those for normal boys among multiple age groups since early infancy. In children aged ≥12 years, the HtSDS values were significantly lower than the normal reference values for boys of the same age in both the good and poor response groups (P = .025 and P = .003, respectively).The HtSDS in the poor response group was generally lower than the normal reference value (P = .017). The average HtSDS values in the poor response groups were lower than those in the good response groups across multiple age groups. INTERPRETATION: Growth retardation was evident in boys with non‐CAH 46,XY DSD in early childhood and puberty. The level of growth retardation was related to testosterone level. DSD‐specific growth curves can improve our understanding of growth dynamics and minimize the scope for bias in the assessment of growth in these children.