Steroid Hormone Profiles and Molecular Diagnostic Tools in Pediatric Patients With non-CAH Primary Adrenal Insufficiency

Basit Öğe Kaydı
dc.authoridYildiz, Melek/0000-0002-6603-2983
dc.authoridGURAN, TULAY/0000-0003-2658-6866
dc.authoridemeksiz, hamdi cihan/0000-0002-4815-1591
dc.authoridBayramoglu, Elvan/0000-0002-6732-8823
dc.authoridERISEN KARACA, SEDA/0000-0002-8899-8412
dc.authoridGurpinar Tosun, Busra/0000-0002-7588-9807
dc.contributor.authorMenevse, Tuba Seven
dc.contributor.authorDemirkol, Yasemin Kendir
dc.contributor.authorTosun, Busra Gurpinar
dc.contributor.authorBayramoglu, Elvan
dc.contributor.authorYildiz, Melek
dc.contributor.authorAcar, Sezer
dc.contributor.authorKaraca, Seda Erisen
dc.date.accessioned2025-01-27T20:46:02Z
dc.date.available2025-01-27T20:46:02Z
dc.date.issued2022
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
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.description.sponsorshipMedical Research Council of Marmara University [SAG-A-120418-0152]
dc.description.sponsorshipThis work was supported by the Medical Research Council of Marmara University (project grant No. SAG-A-120418-0152).
dc.identifier.doi10.1210/clinem/dgac016
dc.identifier.endpageE1931
dc.identifier.issn0021-972X
dc.identifier.issn1945-7197
dc.identifier.issue5
dc.identifier.pmid35028661
dc.identifier.scopus2-s2.0-85128493928
dc.identifier.scopusqualityQ1
dc.identifier.startpageE1924
dc.identifier.urihttps://doi.org/10.1210/clinem/dgac016
dc.identifier.urihttps://hdl.handle.net/20.500.12428/24793
dc.identifier.volume107
dc.identifier.wosWOS:000783663300043
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherEndocrine Soc
dc.relation.ispartofJournal of Clinical Endocrinology & Metabolism
dc.relation.publicationcategoryinfo:eu-repo/semantics/openAccess
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WoS_20250125
dc.subjectadrenal insufficiency
dc.subjectchildren
dc.subjectLC-MS
dc.subjectMS
dc.subjectsteroid profile
dc.subjectnon-CAH primary adrenal insufficiency
dc.titleSteroid Hormone Profiles and Molecular Diagnostic Tools in Pediatric Patients With non-CAH Primary Adrenal Insufficiency
dc.typeArticle

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayınlar Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu