000149030 001__ 149030 000149030 005__ 20250124153131.0 000149030 0247_ $$2doi$$a10.1016/j.anpede.2024.10.008 000149030 0248_ $$2sideral$$a142178 000149030 037__ $$aART-2024-142178 000149030 041__ $$aeng 000149030 100__ $$aOvejero García, María Teresa 000149030 245__ $$aPrimary adrenal insufficiency: case study IN 5 tertiary hospitals 000149030 260__ $$c2024 000149030 5060_ $$aAccess copy available to the general public$$fUnrestricted 000149030 5203_ $$aIntroduction 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. 000149030 540__ $$9info:eu-repo/semantics/openAccess$$aby-nc-nd$$uhttp://creativecommons.org/licenses/by-nc-nd/3.0/es/ 000149030 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion 000149030 700__ $$aSáez Gallego, Blanca 000149030 700__ $$aBarreda Bonís, Ana Coral 000149030 700__ $$aDomínguez Riscart, Jesús 000149030 700__ $$aGarnier Rodríguez, María Beatriz 000149030 700__ $$aMolina Suárez, Ruth 000149030 700__ $$0(orcid)0000-0002-2865-5813$$aArriba Muñoz, Antonio De$$uUniversidad de Zaragoza 000149030 7102_ $$11011$$2670$$aUniversidad de Zaragoza$$bDpto. Microb.Ped.Radio.Sal.Pú.$$cÁrea Pediatría 000149030 773__ $$g101, 5 (2024), 303-309$$tAnales de Pediatría (English Edition)$$x2341-2879 000149030 8564_ $$s307820$$uhttps://zaguan.unizar.es/record/149030/files/texto_completo.pdf$$yVersión publicada 000149030 8564_ $$s1870092$$uhttps://zaguan.unizar.es/record/149030/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada 000149030 909CO $$ooai:zaguan.unizar.es:149030$$particulos$$pdriver 000149030 951__ $$a2025-01-24-14:49:19 000149030 980__ $$aARTICLE