The First-Year Outcomes of the Nationwide Neonatal CAH Screening in Türkiye: High Rate of False Positives for 21-Hydroxylase Deficiency and a Higher Detection Rate of Non-Classical Cases

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dc.contributor.authorGuran, Tulay
dc.contributor.authorYuruker, Elif
dc.contributor.authorAnik, Ahmet
dc.contributor.authorAtar, Muge
dc.contributor.authorCamtosun, Emine
dc.contributor.authorEviz, Elif
dc.contributor.authorIsakoca, Mehmet
dc.date.accessioned2026-04-04T13:30:50Z
dc.date.available2026-04-04T13:30:50Z
dc.date.issued2025
dc.departmentİnönü Üniversitesi
dc.description.abstractObjective: Neonatal screening for congenital adrenal hyperplasia (CAH) was implemented nationwide in T & uuml;rkiye in 2022. The performance of this screening program in its first year was assessed. Methods: This retrospective, descriptive study included neonates born in T & uuml;rkiye between January 1 and December 31, 2022, with gestational age >= 32 weeks and birth weight >= 1500 grams. The screening protocol used a two-tier approach. In the first step, 17 alpha-hydroxyprogesterone (17-OHP) levels were measured using fluoroimmunoassay (FIA) in dried blood spots (DBS) collected at 3-5 days of life. Infants with positive results underwent second-tier testing using liquid chromatography-tandem mass spectrometry to measure 17-OHP, 21-deoxycortisol (21-DF), cortisol (F), and 11-deoxycortisol (S) in DBS. Those with a steroid ratio (21-DF+17-OHP)/F >= 1 were referred to pediatric endocrinology clinics for diagnostic evaluation. Results: Of 1,096,069 neonates screened (including 149,652 refugees), second-tier tests were performed on 70,455 (6.88%) infants, and 3,429 (0.27%) were referred to clinics, resulting in 91 confirmed cases of classical 21-hydroxylase deficiency (21-OHD) CAH (77; salt-wasting, 14; simple virilizing). Twenty-two patients were diagnosed with non-classical 21-OHD CAH. The frequency of classical 21-OHD was 1 in 12,044. The first-tier FIA-17-OHP values were below 17.5 ng/mL in 99.8% of healthy neonates with >= 36 weeks gestation or >= 2500 grams and below 50 ng/mL in those with 32-36 weeks or 1500-2500 grams. Conclusion: Neonatal CAH screening facilitates early diagnosis of 21-OHD and improved patient care. Using refined cut-offs may reduce referrals six-fold and eliminate second-tier testing for 95% of infants. Ongoing evaluation can enhance the efficiency and costeffectiveness of the screening protocol.
dc.identifier.doi10.4274/jcrpe.galenos.2025.2024-9-11
dc.identifier.endpage493
dc.identifier.issn1308-5727
dc.identifier.issn1308-5735
dc.identifier.issue4
dc.identifier.orcid0000-0002-5654-247X
dc.identifier.orcid0000-0002-7588-9807
dc.identifier.pmid40405612
dc.identifier.scopus2-s2.0-105024434976
dc.identifier.scopusqualityQ2
dc.identifier.startpage488
dc.identifier.trdizinid1364606
dc.identifier.urihttps://doi.org/10.4274/jcrpe.galenos.2025.2024-9-11
dc.identifier.urihttps://search.trdizin.gov.tr/tr/yayin/detay/1364606
dc.identifier.urihttps://hdl.handle.net/11616/108401
dc.identifier.volume17
dc.identifier.wosWOS:001639138200001
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakTR-Dizin
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherGalenos Publ House
dc.relation.ispartofJournal of Clinical Research in Pediatric Endocrinology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WOS_20250329
dc.subjectNeonatal screening
dc.subjectcongenital adrenal hyperplasia
dc.subjectsecond-tier
dc.subjectsteroid profiling
dc.subjectLC-MS/MS
dc.titleThe First-Year Outcomes of the Nationwide Neonatal CAH Screening in Türkiye: High Rate of False Positives for 21-Hydroxylase Deficiency and a Higher Detection Rate of Non-Classical Cases
dc.typeArticle

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