Endocrine Abstracts

Introduction: Camurati-Engelmann disease (CED) is a rare progressive bone dysplasia with ~200 cases documented worldwide. The hallmark is gross thickening of the diaphysis of long bones, usually presenting in childhood, with bilateral, symmetrical pain in the extremities. Endocrine complications include vitamin D deficiency, osteoporosis, delayed puberty, tall stature, hypogonadotrophic hypogonadism and gonadal dysfunction. The disease has been ascribed to activating mutations...