Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants

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dc.contributor.authorGuran, Tulay
dc.contributor.authorTezel, Basak
dc.contributor.authorGurbuz, Fatih
dc.contributor.authorEklioglu, Beray Selver
dc.contributor.authorHatipoglu, Nihal
dc.contributor.authorKara, Cengiz
dc.contributor.authorSimsek, Enver
dc.date.accessioned2024-02-23T14:38:10Z
dc.date.available2024-02-23T14:38:10Z
dc.date.issued2019
dc.departmentNEÜen_US
dc.description.abstractObjective: Congenital adrenal hyperplasia (CAH) is the most common form of primary adrenal insufficiency in children. Neonatal screening for CAH is effective in detecting the salt-wasting (SW) form and in reducing mortality. in this study, our aim was to estimate the incidence of CAH in Turkey and to assess the characteristics and efficacy of the adopted newborn CAH screening strategy. Methods: A pilot newborn CAH screening study was carried out under the authority of the Turkish Directorate of Public Health. Newborn babies of >= 32 gestational weeks and >= 1500 gr birth weight from four cities, born between March 27-September 15, 2017 were included in the study. Screening protocol included one sample two-tier testing. In the first step, 17 alpha-hydroxyprogesterone (17-OHP) was measured by fluoroimmunoassay in dried blood spots (DBS) obtained at 3-5 days of life. The cases with positive initial screening were tested by steroid profiling in DBS using a liquid chromatography-tandem mass spectrometry method to measure 17-OHP, 21-deoxycortisol (21-S), cortisol (F), 11-deoxycortisol and androstenedione as a second-tier test. The babies with a steroid ratio (21-S + 17-OHP)/F of >= 0.5 were referred to pediatric endocrinology clinics for diagnostic assessment. Results: 38,935 infants were tested, 2265 (5.82 %) required second-tier testing and 212 (0.54 %) were referred for clinical assessment, six of whom were diagnosed with CAH (four males, two females). Four cases were identified as SW 21-hydroxylase deficiency (21-OHD) (two males, two females). One male baby had simple virilizing 21-0HD and one male baby had II-OHD CAH. The incidence of classical 21-0HD in the screened population was 1:7,787. Conclusion: The incidence of CAH due to classical 21-OHD is higher in Turkey compared to previous reports. We, therefore, suggest that CAH be added to the newborn screening panel in Turkey. The use of steroid profiling as a second-tier test was found to improve the efficacy of the screening and reduce the number of false-positives.en_US
dc.identifier.doi10.4274/jcrpe.galenos.2018.2018.0117
dc.identifier.endpage23en_US
dc.identifier.issn1308-5727
dc.identifier.issn1308-5735
dc.identifier.issue1en_US
dc.identifier.pmid30111524en_US
dc.identifier.scopus2-s2.0-85061958651en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage13en_US
dc.identifier.urihttps://doi.org/10.4274/jcrpe.galenos.2018.2018.0117
dc.identifier.urihttps://hdl.handle.net/20.500.12452/16394
dc.identifier.volume11en_US
dc.identifier.wosWOS:000459188200003en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_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.subjectNewborn Screeningen_US
dc.subjectCongenital Adrenal Hyperplasiaen_US
dc.subjectSecond-Tieren_US
dc.subjectSteroid Profilingen_US
dc.titleNeonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infantsen_US
dc.typeArticleen_US

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