Pediatric Primary Adrenal Insufficiency: A 21-year Single Center Experience

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dc.authoridÇamtosun, Emine/0000-0002-8144-4409
dc.authoridDundar, Ismail/0000-0003-1468-6405
dc.authoridDundar, Ismail/0000-0003-1468-6405
dc.authoridCiftci, Nurdan/0000-0002-8203-3572
dc.authorwosidÇamtosun, Emine/AAE-3945-2020
dc.authorwosidDundar, Ismail/AAA-2528-2021
dc.authorwosidÇiftci, Nurdan/GNM-8116-2022
dc.authorwosidDundar, Ismail/ABG-2027-2021
dc.contributor.authorCamtosun, Emine
dc.contributor.authorDundar, Ismail
dc.contributor.authorAkinci, Aysehan
dc.contributor.authorKayas, Leman
dc.contributor.authorCiftci, Nurdan
dc.date.accessioned2024-08-04T20:10:04Z
dc.date.available2024-08-04T20:10:04Z
dc.date.issued2021
dc.departmentİnönü Üniversitesien_US
dc.description.abstractObjective: Primary adrenal insufficiency (PAI) is a rare but potentially life-threatening condition. In childhood, PAI is usually caused by monogenic diseases. Although congenital adrenal hyperplasia (CAH) is the most common cause of childhood PAI, numerous non-CAH genetic causes have also been identified. Methods: Patients aged 0-18 years and diagnosed with PAI between 1998 and 2019 in a tertiary care hospital were retrospectively evaluated. After the etiologic distribution was determined, non-CAH PAI patients were evaluated in detail. Results: Seventy-three PAI patients were identified. The most common etiology was CAH (69.9%, n=51). Non-CAH etiologies accounted for 30.1% (n=22) and included adrenoleukodystrophy (ALD; n=8), familial glucocorticoid deficiency (n=3), Triple A syndrome (n=5), autoimmune adrenalitis (n=1), adrenal hypoplasia congenital (n=1), IMAGe syndrome (n=1), and other unknown etiologies (n=3). The median age at the time of AI diagnosis for non-CAH etiologies was 3.52 (0.03-15.17) years. The most frequent symptoms/clinical findings at onset were hyperpigmentation of skin (81.8%), symptoms of hypoglycemia (40.9%), and weakness/fatigue (31.8%). Hypoglycemia (50.0%), hyponatremia (36.4%) and hyperkalemia (22.7%) were prominent biochemical findings. Diagnosis of specific etiologies were proven genetically in 13 of 22 patients. A novel p.Q301* hemizygous frameshift mutation of the DAX1 gene was identified in one patient. Conclusion: Etiology was determined in 86.3% of children with non-CAH PAI through specific clinical and laboratory findings with/without molecular analysis of candidate genes. ALD was the most common etiology. Currently, advanced molecular analysis can be utilized to establish a specific genetic diagnosis for PAI in patients who have no specific diagnostic features.en_US
dc.identifier.doi10.4274/jcrpe.galenos.2020.2020.0132
dc.identifier.endpage99en_US
dc.identifier.issn1308-5727
dc.identifier.issn1308-5735
dc.identifier.issue1en_US
dc.identifier.pmid32938577en_US
dc.identifier.scopus2-s2.0-85102476681en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage88en_US
dc.identifier.trdizinid466504en_US
dc.identifier.urihttps://doi.org/10.4274/jcrpe.galenos.2020.2020.0132
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/466504
dc.identifier.urihttps://hdl.handle.net/11616/92587
dc.identifier.volume13en_US
dc.identifier.wosWOS:000624138000010en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherGalenos Yayinciliken_US
dc.relation.ispartofJournal of Clinical Research in Pediatric Endocrinologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectPrimary adrenal insufficiencyen_US
dc.subjectpediatricen_US
dc.subjectetiologyen_US
dc.titlePediatric Primary Adrenal Insufficiency: A 21-year Single Center Experienceen_US
dc.typeArticleen_US

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