dc.contributor.author |
Güran, Tülay |
|
dc.contributor.author |
Tezel, Başak |
|
dc.contributor.author |
Çakır, Meltem |
|
dc.contributor.author |
Akıncı, Ayşehan |
|
dc.contributor.author |
Orbak, Zerrin |
|
dc.contributor.author |
Keskin, Mehmet |
|
dc.contributor.author |
Eklioğlu, Beray |
|
dc.contributor.author |
Ozon, Alev |
|
dc.contributor.author |
Özbek, Mehmet Nuri |
|
dc.contributor.author |
Karagüzel, Gülay |
|
dc.contributor.author |
Hatipoğlu, Nihal |
|
dc.contributor.author |
Gürbüz, Fatih |
|
dc.contributor.author |
Çizmecioğlu, Filiz |
|
dc.contributor.author |
Kara, Cengiz |
|
dc.contributor.author |
Şimşek, Enver |
|
dc.contributor.author |
Baş, Firdevs |
|
dc.contributor.author |
Aydın, Murat |
|
dc.contributor.author |
Darendeliler, Feyza |
|
dc.date.accessioned |
2021-03-22T18:19:18Z |
|
dc.date.available |
2021-03-22T18:19:18Z |
|
dc.date.issued |
2020 |
|
dc.identifier.citation |
GÜRAN 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.2020.2019.0182 |
en_US |
dc.identifier.uri |
https://app.trdizin.gov.tr/makale/TXpjNU9UUTBOQT09/neonatal-screening-for-congenital-adrenal-hyperplasia-in-turkey-outcomes-of-extended-pilot-study-in-241-083-infants |
|
dc.identifier.uri |
http://hdl.handle.net/11616/19673 |
|
dc.description.abstract |
Abstract: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, 17α-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 11β-OHD CAH. No case of salt-wasting CAH was missed by neonatal screening (sensitivity was 100%). The incidence of classical 21-OHD and 11β-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 11β-OHD, using steroid profiling as a second-tier test. This will result in improved care of these patients in the future. |
en_US |
dc.language.iso |
tur |
en_US |
dc.rights |
info:eu-repo/semantics/openAccess |
en_US |
dc.title |
Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants |
en_US |
dc.type |
article |
en_US |
dc.relation.ispartof |
Journal of Clinical Research in Pediatric Endocrinology |
en_US |
dc.department |
İnönü Üniversitesi |
en_US |