Steroid hormone profiles and molecular diagnostic tools in pediatric patients with non-CAH primary adrenal insufficiency

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dc.authorid0000-0002-1044-6888
dc.contributor.authorSeven Menevşe, Tuba
dc.contributor.authorKendir Demirkol, Yasemin
dc.contributor.authorGürpınar Tosun, Büşra
dc.contributor.authorBayramoğlu, Elvan
dc.contributor.authorYıldız, Melek
dc.contributor.authorAcar, Sezer
dc.contributor.authorErişen Karaca, Seda
dc.contributor.authorOrbak, Zerrin
dc.contributor.authorÖnder, Asan
dc.contributor.authorSöbü, Elif
dc.contributor.authorAnık, Ahmet
dc.contributor.authorAtay, Zeynep
dc.contributor.authorBuğrul, Fuat
dc.contributor.authorBuluş, Ayşe Derya
dc.contributor.authorDemir, Korcan
dc.contributor.authorDoğan, Durmuş
dc.contributor.authorEmeksiz, Hamdi Cihan
dc.contributor.authorKırmızıbekmez, Heves
dc.contributor.authorÖzcan Murat, Nurhan
dc.contributor.authorYaman, Akan
dc.contributor.authorTuran, Serap
dc.contributor.authorBereket, Abdullah
dc.contributor.authorGüran, Tülay
dc.date.accessioned2022-04-29T06:41:19Z
dc.date.available2022-04-29T06:41:19Z
dc.date.issued2022
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
dc.description.abstractCONTEXT: There is a significant challenge of attributing specific diagnoses to patients with primary adrenal insufficiency of unknown etiology other than congenital adrenal hyperplasia (non-CAH PAI). Specific diagnoses per se may guide personalized treatment or may illuminate pathophysiology. OBJECTIVE: This work aimed to investigate the efficacy of steroid hormone profiles and high-throughput sequencing methods in establishing the etiology in non-CAH PAI of unknown origin. METHODS: Pediatric patients with non-CAH PAI whose etiology could not be established by clinical and biochemical characteristics were enrolled. Genetic analysis was performed using targeted-gene panel sequencing (TPS) and whole-exome sequencing (WES). Plasma adrenal steroids were quantified by liquid chromatography-mass spectrometry and compared to that of controls. This study comprised 18 pediatric endocrinology clinics with 41 patients (17 girls, median age: 3 mo, range: 0-8 y) with non-CAH PAI of unknown etiology. RESULTS: A genetic diagnosis was obtained in 29 (70.7%) patients by TPS. Further molecular diagnosis could not be achieved by WES. Compared to a healthy control group, patients showed lower steroid concentrations, most statistically significantly in cortisone, cortisol, and corticosterone (P?<?.0001, area under the receiver operating characteristic curve: .96, .88, and .87, respectively). Plasma cortisol of less than 4 ng/mL, cortisone of less than 11 ng/mL, and corticosterone of less than 0.11 ng/mL had a greater than 95% specificity to ensure the diagnosis of non-CAH PAI of unknown etiology. CONCLUSION: Steroid hormone profiles are highly sensitive for the diagnosis of non-CAH PAI of unknown etiology, but they are unlikely to point to a specific molecular diagnosis. TPS is an optimal approach in the molecular diagnosis of these patients with high efficacy, whereas little additional benefit is expected from WES.
dc.identifier.citationSeven Menevşe, T., Kendir Demirkol, Y., Gürpınar Tosun, B., Bayramoğlu, E., Yıldız, M., Acar, S. ... Güran, T. (2022). Steroid hormone profiles and molecular diagnostic tools in pediatric patients with non-CAH primary adrenal insufficiency. The Journal of Clinical Endocrinology and Metabolism, 107(5), 1924-1931. https://doi.org/10.1210/clinem/dgac016
dc.identifier.doi10.1210/clinem/dgac016
dc.identifier.endpage1931
dc.identifier.issn0021-972X
dc.identifier.issn1945-7197
dc.identifier.issue5
dc.identifier.pmid35028661
dc.identifier.scopus2-s2.0-85128493928
dc.identifier.scopusqualityN/A
dc.identifier.startpage1924
dc.identifier.urihttps://doi.org/10.1210/clinem/dgac016
dc.identifier.urihttps://hdl.handle.net/20.500.12511/9391
dc.identifier.volume107
dc.identifier.wos000783663300043en_US
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorAtay, Zeynep
dc.language.isoen
dc.publisherNational Library of Medicine's (NLM) Medline
dc.relation.ispartofThe Journal of Clinical Endocrinology and Metabolismen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectAdrenal Insufficiency
dc.subjectChildren
dc.subjectLC-MS/MS
dc.subjectNon-CAH Primary Adrenal Insufficiency
dc.subjectSteroid Profile
dc.titleSteroid hormone profiles and molecular diagnostic tools in pediatric patients with non-CAH primary adrenal insufficiency
dc.typeArticle

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