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).
Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseases
For chronic congenital endocrine conditions, age at diagnosis is a key issue with implications for optimal management and psychological concerns. These conditions are associated with an increase in the risk of...
Citation: Orphanet Journal of Rare Diseases 2021 16:469