ISSN 1662-4009 (online)

Previous issue | Volume 20 | ESPEYB20

Yearbook of Paediatric Endocrinology 2023

6. Adrenals

Important for Clinical Practice

ey0020.6-3 | Important for Clinical Practice | ESPEYB20

6.3. Metabotypes of congenital adrenal hyperplasia in infants determined by gas chromatography-mass spectrometry in spot urine

C Kamrath , C Friedrich , MF Hartmann , SA Wudy

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 ...

ey0020.6-4 | Important for Clinical Practice | ESPEYB20

6.4. A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologies

M Aranda-Guillen , EC Royrvik , S Fletcher-Sandersjoo , H Artaza , IR Botusan , MA Grytaas , AE Hallgren , L Breivik , M Pettersson , AP Jorgensen , A Lindstrand , E Vogt , Norwegian Addison Registry Study Group, The Swedish Addison Registry Study Group , ES Husebye , O Kampe , ASB Wolff , S Bensing , S Johansson , D Eriksson

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...

ey0020.6-5 | Important for Clinical Practice | ESPEYB20

6.5. International recommendations for the diagnosis and management of patients with adrenoleukodystrophy: A consensus-based approach

M Engelen , WJC van Ballegoij , EJ Mallack , KP Van Haren , W Kohler , E Salsano , ASP van Trotsenburg , F Mochel , C Sevin , MO Regelmann , NA Tritos , A Halper , RH Lachmann , J Davison , GV Raymond , TC Lund , PJ Orchard , JS Kuehl , CA Lindemans , P Caruso , BR Turk , AB Moser , FM Vaz , S Ferdinandusse , S Kemp , A Fatemi , FS Eichler , IC Huffnagel

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 ...