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...

BackgroundPrenatal dexamethasone treatment (Pdex) has been used since the 1980s to prevent virilization in female offspring suspected to have congenital adrenal hyperplasia (CAH). However, due to lack of strong evidence for its best practice as well as limited data regarding longterm adverse effects, use of dex is highly controversial. This study reveals the current medical practice regarding Pdex in female fetuses at risk of CAH due to 21hydroxylase def...