Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants

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dc.contributor.authorGüran, Tülay
dc.contributor.authorTezel, Başak
dc.contributor.authorÇakır, Meltem
dc.contributor.authorAkıncı, Ayşehan
dc.contributor.authorOrbak, Zerrin
dc.contributor.authorKeskin, Mehmet
dc.contributor.authorEklioğlu, Beray
dc.contributor.authorOzon, Alev
dc.contributor.authorÖzbek, Mehmet Nuri
dc.contributor.authorKaragüzel, Gülay
dc.contributor.authorHatipoğlu, Nihal
dc.contributor.authorGürbüz, Fatih
dc.contributor.authorÇizmecioğlu, Filiz
dc.contributor.authorKara, Cengiz
dc.contributor.authorŞimşek, Enver
dc.contributor.authorBaş, Firdevs
dc.contributor.authorAydın, Murat
dc.contributor.authorDarendeliler, Feyza
dc.date.accessioned2021-03-22T18:19:18Z
dc.date.available2021-03-22T18:19:18Z
dc.date.issued2020
dc.departmentİnönü Üniversitesien_US
dc.description.abstractAbstract: Objective: Turkish Directorate of Public Health introduced the first pilot screening program for congenital adrenal hyperplasia (CAH) in four Turkish cities in 2017, and in 2018 extended the program, with a slight change in screening strategy, to fourteen cities. To evaluate the performance of the extended study and update previously reported outcomes. Methods: Retrospective, descriptive study. Neonates of ?32 gestational weeks and ?1500 gr birth weight from fourteen cities, born between May-December 2018, were included. Screening protocol included one sample, two-tier testing as applied in the previous pilot study. In the first step, 17?-hydroxyprogesterone (17-OHP) was measured by fluoroimmunoassay in dried blood spots (DBS) obtained at 3-5 days of life. Cases with positive initial screening underwent second tier testing by steroid profiling in DBS using liquid chromatographytandem mass spectrometry to measure 17-OHP, 21-deoxycortisol (21-S), cortisol (F), 11-deoxycortisol and androstenedione. The babies with a steroid ratio (21-S+17-OHP)/F of ?0.7 (increased from ?0.5 in the earlier pilot study) were referred to pediatric endocrinology clinics for diagnostic assessment. Results: In the evaluated period, 241,083 newborns were screened. 12,321 (5.11%) required second-tier testing and 880 (0.36%) were referred for clinical assessment, twenty of whom were diagnosed with CAH (10 females, 10 males). Sixteen were diagnosed as classical 21-hydroxylase deficiency (21-OHD) CAH (12 with salt-wasting and four with simple virilising CAH), and four cases were identified with 11?-OHD CAH. No case of salt-wasting CAH was missed by neonatal screening (sensitivity was 100%). The incidence of classical 21-OHD and 11?-OHD in the screened population was 1: 15,067 and 1: 60,270, respectively. Conclusion: Turkish neonatal CAH screening effectively led to earlier diagnosis of 21-OHD and 11?-OHD, using steroid profiling as a second-tier test. This will result in improved care of these patients in the future.en_US
dc.identifier.citationGÜRAN T,TEZEL B,ÇAKIR M,AKINCI A,ORBAK Z,KESKİN M,EKLİOĞLU B,OZON A,ÖZBEK M. N,KARAGÜZEL G,HATİPOĞLU N,GÜRBÜZ F,ÇİZMECİOĞLU F,KARA C,ŞİMŞEK E,BAŞ F,AYDIN M,DARENDELİLER F (2020). Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants. Journal of Clinical Research in Pediatric Endocrinology, 12(3), 287 - 294. Doi: 10.4274/jcrpe.galenos.2020.2019.0182en_US
dc.identifier.doi10.4274/jcrpe.galenos.2020.2019.0182en_US
dc.identifier.endpage294en_US
dc.identifier.issn1308-5727
dc.identifier.issn1308-5735
dc.identifier.issue3en_US
dc.identifier.pmid32157855en_US
dc.identifier.scopus2-s2.0-85090491812en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage287en_US
dc.identifier.trdizinid379944en_US
dc.identifier.urihttps://doi.org/10.4274/jcrpe.galenos.2020.2019.0182
dc.identifier.urihttps://hdl.handle.net/11616/19673
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/379944
dc.identifier.volume12en_US
dc.identifier.wosWOS:000565866100017en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakTR-Dizinen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isotren_US
dc.relation.ispartofJournal of Clinical Research in Pediatric Endocrinologyen_US
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleNeonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infantsen_US
dc.typeArticleen_US

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