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

Basit Öğe Kaydı
dc.authoridTuran, Serap/0000-0002-5172-5402
dc.authoriddemir, korcan/0000-0002-8334-2422
dc.authoridbayramoglu, elvan/0000-0002-6732-8823
dc.authoridSöbü, Elif/0000-0002-2037-7046
dc.authoridERISEN KARACA, SEDA/0000-0002-8899-8412
dc.authoridGurpinar Tosun, Busra/0000-0002-7588-9807
dc.authoridYıldız, Melek/0000-0002-6603-2983
dc.authorwosidTuran, Serap/U-7195-2018
dc.authorwosiddemir, korcan/F-5371-2012
dc.authorwosidSöbü, Elif/GSN-9730-2022
dc.authorwosidbayramoglu, elvan/AAH-7316-2020
dc.contributor.authorMenevse, Tuba Seven
dc.contributor.authorDemirkol, Yasemin Kendir
dc.contributor.authorTosun, Büşra Gürpinar
dc.contributor.authorBayramoglu, Elvan
dc.contributor.authorYıldız, Melek
dc.contributor.authorAcar, Sezer
dc.contributor.authorKaraca, Seda Erişen
dc.date.accessioned2023-07-26T11:50:45Z
dc.date.available2023-07-26T11:50:45Z
dc.date.issued2022
dc.departmentDÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalıen_US
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.en_US
dc.description.sponsorshipMedical Research Council of Marmara University [SAG-A-120418-0152]en_US
dc.description.sponsorshipThis work was supported by the Medical Research Council of Marmara University (project grant No. SAG-A-120418-0152).en_US
dc.identifier.doi10.1210/clinem/dgac016
dc.identifier.endpageE1931en_US
dc.identifier.issn0021-972X
dc.identifier.issn1945-7197
dc.identifier.issue5en_US
dc.identifier.pmid35028661en_US
dc.identifier.scopus2-s2.0-85128493928en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpageE1924en_US
dc.identifier.urihttps://doi.org/10.1210/clinem/dgac016
dc.identifier.urihttps://hdl.handle.net/20.500.12684/12422
dc.identifier.volume107en_US
dc.identifier.wosWOS:000783663300043en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.indekslendigikaynakScopusen_US
dc.institutionauthorKaraca, Seda Erişen
dc.language.isoenen_US
dc.publisherEndocrine Socen_US
dc.relation.ispartofJournal of Clinical Endocrinology & Metabolismen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmz$2023V1Guncelleme$en_US
dc.subjectAdrenal Insufficiency; Children; Lc-Ms; Ms; Steroid Profile; Non-Cah Primary Adrenal Insufficiencyen_US
dc.subjectMutations Cause; Management; Deficiency; Variants; Etiology; Childrenen_US
dc.titleSteroid Hormone Profiles and Molecular Diagnostic Tools in Pediatric Patients With non-CAH Primary Adrenal Insufficiencyen_US
dc.typeArticleen_US

Dosyalar

Orijinal paket
Listeleniyor 1 - 1 / 1
Küçük Resim Yok
İsim:
12452.pdf
Boyut:
283.74 KB
Biçim:
Adobe Portable Document Format
Açıklama:
Tam Metin / Full Text
İndir

Koleksiyon

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