ESPE Yearbook of Paediatric Endocrinology

Brief summary: This study investigates metabotyping using steroid profiles, obtained with GC–MS, as a method to monitor the treatment in children with classical congenital adrenal hyperplasia.The aim of treatment in classic congenital adrenal hyperplasia (CAH) is to provide adequate glucocorticoid substitution to prevent adrenal crises and to suppress the excess adrenal androgen production. However, in clinical practice this is often difficult, and ...

Brief summary: The authors designed a polygenic risk score (PRS) to aid in estimating disease susceptibility in patients with autoimmune Addison’s disease (AAD).Autoimmune Addison’s disease (AAD) is the most common cause of primary adrenal insufficiency (PAI) in adults. Despite its exceptionally high heritability, tools to estimate disease susceptibility in individual patients are lacking (1–3). The aim of this study was t...

Brief summary: This paper describes consensus expert recommendations for the diagnosis and management of patients with Adrenoleukodystrophy.Adrenoleukodystrophy (ALD), a progressive metabolic disorder with variable and unpredictable clinical course, is caused by pathogenic variants in ABCD1 gene leading to deficient β-oxidation of saturated very-long-chain fatty acids (VLCFAs) (1, 2). Patients are asymptomatic at birth but ...