ESPE Abstracts

Background: In patients with SHOX deficiency, radiographic abnormalities can vary, with some cases showing no deformities or only mild deformities, particularly in young children, while Madelung deformity is the most commonly observed radiographic feature. Growth hormone (GH) therapy for individuals with SHOX deficiency has been available in Japan since June 2023. This report summarizes a case series of SHOX deficiency diagnosed at a single institution, with a...