The aim of this section is to provide timely access to research on rare inherited endocrine disorders encountered in children and adults. These include congenital disorders (e.g., Congenital adrenal hyperplasia), cancer syndromes (e.g., the multiple endocrine neoplasia syndromes), and endocrine manifestations that stem from inherited metabolic diseases (which are especially likely to be associated with diabetes mellitus, hypogonadism, and adrenal, pituitary, and thyroid dysfunction). We welcome papers describing innovative clinical and basic research on all uncommon endocrine disorders, descriptions of newly defined clinical entities, studies that shed light on gene dysfunction, and reports describing therapeutic management (outcomes, novel strategies, and cost-efficiency analyses).
Effects of the COVID-19 pandemic and lockdown on the mental and physical health of adults with Prader-Willi syndrome
Prader-Willi syndrome (PWS) is a neurodevelopmental disorder with hypothalamic dysfunction leading to obesity and behavioral disabilities, including eating disorders (EDs). We evaluated the effects of the COVI...
Citation: Orphanet Journal of Rare Diseases 2021 16:202