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).
Three years of growth hormone treatment in young adults with Prader-Willi syndrome: sustained positive effects on body composition
In children with Prader-Willi syndrome (PWS), the benefits of growth hormone treatment are well established. Several one-year studies have shown that growth hormone is also beneficial for adults with PWS, impr...
Citation: Orphanet Journal of Rare Diseases 2020 15:163