149030 20250124153131.0 doi 10.1016/j.anpede.2024.10.008 sideral 142178 ART-2024-142178 eng Ovejero García, María Teresa Primary adrenal insufficiency: case study IN 5 tertiary hospitals 2024 Introduction Primary adrenal insufficiency (PAI) in children is a rare condition characterized by deficient production of glucocorticoids and/or mineralocorticoids. The clinical manifestations are nonspecific and insidious. Providers need to know about this disorder to be able to make an early diagnosis, as appropriate management can be life-saving. Methods We conducted a multicentre retrospective study including every patient aged less than 18 years given a diagnosis of PAI in the last 30 years at 5 Spanish hospitals. Objectives The objective was to determine the aetiologies, signs, symptoms and laboratory findings of PAI in the paediatric age group. Results Twenty nine patients received a diagnosis of PAI at a median age of 5.6 years. An aetiological diagnosis was established in 23 patients (79.3%): X-linked adrenoleukodystrophy in 8 (27.6%), autoimmune adrenalitis in 6 (20.7%), X-linked adrenal hypoplasia congenita in 4 (13.8%), adrenocorticotropic hormone (ACTH) resistance syndrome in 2 (6.9%), Pearson syndrome in 2 (6.9%) and Allgrove syndrome in 1 (3.4%). In the remaining 6 patients, no clear aetiology was identified. Sixteen patients (55.2%) had onset with an adrenal crisis. Twenty patients (69%) needed combination therapy (hydrocortisone and fludrocortisone). Conclusions Asthenia, hyperpigmentation and hyponatraemia were the most prevalent sign, symptom and electrolyte abnormality at onset of PAI, although their absence does not rule out this disease. The elevation of ACTH persists despite adequate glucocorticoid replacement therapy. Access copy available to the general public Unrestricted info:eu-repo/semantics/openAccess by-nc-nd http://creativecommons.org/licenses/by-nc-nd/3.0/es/ info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Sáez Gallego, Blanca Barreda Bonís, Ana Coral Domínguez Riscart, Jesús Garnier Rodríguez, María Beatriz Molina Suárez, Ruth Arriba Muñoz, Antonio De Universidad de Zaragoza (orcid)0000-0002-2865-5813 1011 670 Universidad de Zaragoza Dpto. Microb.Ped.Radio.Sal.Pú. Área Pediatría 101, 5 (2024), 303-309 Anales de Pediatría (English Edition) 2341-2879 307820 http://zaguan.unizar.es/record/149030/files/texto_completo.pdf Versión publicada 1870092 http://zaguan.unizar.es/record/149030/files/texto_completo.jpg?subformat=icon icon Versión publicada oai:zaguan.unizar.es:149030 articulos driver 2025-01-24-14:49:19 ARTICLE