Genotypes and Phenotypes of Children with SHOX Deficiency in France

Context: The prevalence of SHOX deficiency in children with short stature (SS) is variable in the literature and various genotypes have been identified. Objectives: The aim of our study was to determine the frequency and distribution of SHOX genotypes in a large sample of children with SS in France. Design, Setting, and Patients: Children were enrolled in 38 French pediatric endocrinology centers and were either diagnosed with Leri-Weill syndrome (LWS), idiopathic short stature (ISS), or disproportionate short stature (DSS). Intervention and Main Outcome Measure: SHOX analysis was performed centrally as part of the Genetics and Neuroendocrinology of Short Stature International Study observational study. We compared patients with (SHOX-D) and without SHOX deficiency (non-SHOX-D). Results: Among the 537 patients tested [58.3% females, mean age 11.0 (4.2) yr], 27.7% had SHOX deficiency (LWS, 48.9%; ISS, 16.9%; DSS, 18.8%). Mean height [−2.3 (0.9) sd score] was similar in SHOX-D and non-SHOX-D patients. The m...