{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T11:21:41Z","timestamp":1784546501043,"version":"3.55.0"},"reference-count":57,"publisher":"The Endocrine Society","issue":"3","license":[{"start":{"date-parts":[[2020,11,28]],"date-time":"2020-11-28T00:00:00Z","timestamp":1606521600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,3,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Primary adrenal insufficiency (PAI) is a rare and potentially life-threatening condition that is poorly characterized in children.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>To describe causes, presentation, auxological outcome, frequency of adrenal crisis and mortality of a large cohort of children with PAI.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Patients and Methods<\/jats:title>\n                  <jats:p>Data from 803 patients from 8 centers of Pediatric Endocrinology were retrospectively collected.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>The following etiologies were reported: 85% (n = 682) congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD); 3.1% (n = 25) X-linked adrenoleukodystrophy; 3.1% (n = 25) autoimmune polyglandular syndrome type 1; 2.5% (n = 20) autoimmune adrenal insufficiency; 2% (n = 16) adrenal hypoplasia congenital; 1.2% (n = 10) non-21-OHD CAH; 1% (n = 8) rare syndromes; 0.6% (n = 5) familial glucocorticoid deficiency; 0.4% (n = 3) acquired adrenal insufficiency; 9 patients (1%) did not receive diagnosis. Since 21-OHD CAH has been extensively characterized, it was not further reviewed. In 121 patients with a diagnosis other than 21-OHD CAH, the most frequent symptoms at diagnosis were fatigue (67%), hyperpigmentation (50.4%), dehydration (33%), and hypotension (31%). Elevated adrenocorticotropic hormone (96.4%) was the most common laboratory finding followed by hyponatremia (55%), hyperkalemia (32.7%), and hypoglycemia (33.7%). The median age at presentation was 6.5 \u00b1 5.1 years (0.1-17.8 years) and the mean duration of symptoms before diagnosis was 5.6 \u00b1 11.6 months (0-56 months) depending on etiology. Rate of adrenal crisis was 2.7 per 100 patient-years. Three patients died from the underlying disease. Adult height, evaluated in 70 patients, was \u22120.70 \u00b1 1.20 standard deviation score.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>We characterized one of the largest cohorts of children with PAI aiming to improve the knowledge on diagnosis of this rare condition.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgaa881","type":"journal-article","created":{"date-parts":[[2020,11,28]],"date-time":"2020-11-28T18:26:47Z","timestamp":1606588007000},"page":"762-773","source":"Crossref","is-referenced-by-count":44,"title":["Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort"],"prefix":"10.1210","volume":"106","author":[{"given":"Donatella","family":"Capalbo","sequence":"first","affiliation":[{"name":"Pediatric Endocrinology Unit, Department of Mother and Child, University Hospital Federico II, Endo-ERN Center for Rare Endocrine Conditions, Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Moracas","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Unit, Department of Translational Medical Sciences, University of Naples Federico II, Endo-ERN Center for Rare Endocrine Conditions, Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Cappa","sequence":"additional","affiliation":[{"name":"Unit of Endocrinology, Bambino Ges\u00f9 Children\u2019s Hospital (IRCCS), Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Balsamo","sequence":"additional","affiliation":[{"name":"Pediatric Unit, Department of Medical and Surgical Sciences, S.Orsola-Malpighi University Hospital, Endo-ERN Center for Rare Endocrine Conditions, Bologna, 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