Age-related stature and linear body segments in children with X-linked hypophosphatemic rickets

Children with X-linked hypophosphatemic rickets (XLH) are prone to severe stunting. A multicenter mixed-longitudinal study was conducted to assess age-related stature, sitting height, arm and leg length in XLH patients on continuous treatment with phosphate and calcitriol. Mean standard deviation scores (SDS) for all body dimensions were markedly reduced and differed significantly among each other at the initial and subsequent evaluations (baseline: stature −2.48 SDS; sitting height −0.99 SDS; arm length −1.81 SDS; leg length −2.90 SDS; each p < 0.001). A strong association between stature and leg length ( r 2 = 0.87, p < 0.001) was noted. Leg length SDS decreased progressively during childhood (2–9 years) and adolescence (12–15 years; each p < 0.001). Sitting height SDS increased significantly during late childhood, indicating uncoupled growth of the legs and trunk and resulting in an ever increasing sitting height index (i.e. ratio of sitting height to stature; age 2 years 2.0 SDS; age 10 years 3.3 SDS; p < 0.001) that was associated with the degree of stunting ( r 2 = 0.314, p < 0.001). Mean serum phosphate levels were positively associated with stature and leg length, but negatively with sitting height index. Based on these results, we can conclude that growth of the legs and trunk is uncoupled in XLH and related to serum phosphate levels.