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

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 chromatography-tandem 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. Ausführliche Beschreibung

Gespeichert in:

Autor*in:	Tülay Güran [verfasserIn] Başak Tezel [verfasserIn] Meltem Çakır [verfasserIn] Ayşehan Akıncı [verfasserIn] Zerrin Orbak [verfasserIn] Mehmet Keskin [verfasserIn] Beray Selver Eklioğlu [verfasserIn] Alev Ozon [verfasserIn] Mehmet Nuri Özbek [verfasserIn] Gülay Karagüzel [verfasserIn] Nihal Hatipoğlu [verfasserIn] Fatih Gürbüz [verfasserIn] Filiz Mine Çizmecioğlu [verfasserIn] Cengiz Kara [verfasserIn] Enver Şimşek [verfasserIn] Firdevs Baş [verfasserIn] Murat Aydın [verfasserIn] Feyza Darendeliler [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2020

Schlagwörter:	neonatal screening congenital adrenal hyperplasia second-tier steroid profiling incidence 11β-hydroxylase deficiency

Übergeordnetes Werk:	In: JCRPE - Galenos Yayincilik, 2019, 12(2020), 3, Seite 287-294
Übergeordnetes Werk:	volume:12 ; year:2020 ; number:3 ; pages:287-294

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc Journal toc

DOI / URN:	10.4274/jcrpe.galenos.2020.2019.0182

Katalog-ID:	DOAJ076005496

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520			\|a 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 chromatography-tandem 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.
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allfields	10.4274/jcrpe.galenos.2020.2019.0182 doi (DE-627)DOAJ076005496 (DE-599)DOAJ7f7e63806add4ccfa5a30c6a2471ecb8 DE-627 ger DE-627 rakwb eng RJ1-570 RC648-665 Tülay Güran verfasserin aut Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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 chromatography-tandem 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. neonatal screening congenital adrenal hyperplasia second-tier steroid profiling incidence 11β-hydroxylase deficiency Pediatrics Diseases of the endocrine glands. Clinical endocrinology Başak Tezel verfasserin aut Meltem Çakır verfasserin aut Ayşehan Akıncı verfasserin aut Zerrin Orbak verfasserin aut Mehmet Keskin verfasserin aut Beray Selver Eklioğlu verfasserin aut Alev Ozon verfasserin aut Mehmet Nuri Özbek verfasserin aut Gülay Karagüzel verfasserin aut Nihal Hatipoğlu verfasserin aut Fatih Gürbüz verfasserin aut Filiz Mine Çizmecioğlu verfasserin aut Cengiz Kara verfasserin aut Enver Şimşek verfasserin aut Firdevs Baş verfasserin aut Murat Aydın verfasserin aut Feyza Darendeliler verfasserin aut In JCRPE Galenos Yayincilik, 2019 12(2020), 3, Seite 287-294 (DE-627)634757652 (DE-600)2571625-6 13085735 nnns volume:12 year:2020 number:3 pages:287-294 https://doi.org/10.4274/jcrpe.galenos.2020.2019.0182 kostenfrei https://doaj.org/article/7f7e63806add4ccfa5a30c6a2471ecb8 kostenfrei http://www.jcrpe.org/archives/archive-detail/article-preview/neonatal-screening-for-congenital-adrenal-hyperpla/36214 kostenfrei https://doaj.org/toc/1308-5727 Journal toc kostenfrei https://doaj.org/toc/1308-5735 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2020 3 287-294
spelling	10.4274/jcrpe.galenos.2020.2019.0182 doi (DE-627)DOAJ076005496 (DE-599)DOAJ7f7e63806add4ccfa5a30c6a2471ecb8 DE-627 ger DE-627 rakwb eng RJ1-570 RC648-665 Tülay Güran verfasserin aut Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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 chromatography-tandem 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. neonatal screening congenital adrenal hyperplasia second-tier steroid profiling incidence 11β-hydroxylase deficiency Pediatrics Diseases of the endocrine glands. Clinical endocrinology Başak Tezel verfasserin aut Meltem Çakır verfasserin aut Ayşehan Akıncı verfasserin aut Zerrin Orbak verfasserin aut Mehmet Keskin verfasserin aut Beray Selver Eklioğlu verfasserin aut Alev Ozon verfasserin aut Mehmet Nuri Özbek verfasserin aut Gülay Karagüzel verfasserin aut Nihal Hatipoğlu verfasserin aut Fatih Gürbüz verfasserin aut Filiz Mine Çizmecioğlu verfasserin aut Cengiz Kara verfasserin aut Enver Şimşek verfasserin aut Firdevs Baş verfasserin aut Murat Aydın verfasserin aut Feyza Darendeliler verfasserin aut In JCRPE Galenos Yayincilik, 2019 12(2020), 3, Seite 287-294 (DE-627)634757652 (DE-600)2571625-6 13085735 nnns volume:12 year:2020 number:3 pages:287-294 https://doi.org/10.4274/jcrpe.galenos.2020.2019.0182 kostenfrei https://doaj.org/article/7f7e63806add4ccfa5a30c6a2471ecb8 kostenfrei http://www.jcrpe.org/archives/archive-detail/article-preview/neonatal-screening-for-congenital-adrenal-hyperpla/36214 kostenfrei https://doaj.org/toc/1308-5727 Journal toc kostenfrei https://doaj.org/toc/1308-5735 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2020 3 287-294
allfields_unstemmed	10.4274/jcrpe.galenos.2020.2019.0182 doi (DE-627)DOAJ076005496 (DE-599)DOAJ7f7e63806add4ccfa5a30c6a2471ecb8 DE-627 ger DE-627 rakwb eng RJ1-570 RC648-665 Tülay Güran verfasserin aut Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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 chromatography-tandem 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. neonatal screening congenital adrenal hyperplasia second-tier steroid profiling incidence 11β-hydroxylase deficiency Pediatrics Diseases of the endocrine glands. Clinical endocrinology Başak Tezel verfasserin aut Meltem Çakır verfasserin aut Ayşehan Akıncı verfasserin aut Zerrin Orbak verfasserin aut Mehmet Keskin verfasserin aut Beray Selver Eklioğlu verfasserin aut Alev Ozon verfasserin aut Mehmet Nuri Özbek verfasserin aut Gülay Karagüzel verfasserin aut Nihal Hatipoğlu verfasserin aut Fatih Gürbüz verfasserin aut Filiz Mine Çizmecioğlu verfasserin aut Cengiz Kara verfasserin aut Enver Şimşek verfasserin aut Firdevs Baş verfasserin aut Murat Aydın verfasserin aut Feyza Darendeliler verfasserin aut In JCRPE Galenos Yayincilik, 2019 12(2020), 3, Seite 287-294 (DE-627)634757652 (DE-600)2571625-6 13085735 nnns volume:12 year:2020 number:3 pages:287-294 https://doi.org/10.4274/jcrpe.galenos.2020.2019.0182 kostenfrei https://doaj.org/article/7f7e63806add4ccfa5a30c6a2471ecb8 kostenfrei http://www.jcrpe.org/archives/archive-detail/article-preview/neonatal-screening-for-congenital-adrenal-hyperpla/36214 kostenfrei https://doaj.org/toc/1308-5727 Journal toc kostenfrei https://doaj.org/toc/1308-5735 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2020 3 287-294
allfieldsGer	10.4274/jcrpe.galenos.2020.2019.0182 doi (DE-627)DOAJ076005496 (DE-599)DOAJ7f7e63806add4ccfa5a30c6a2471ecb8 DE-627 ger DE-627 rakwb eng RJ1-570 RC648-665 Tülay Güran verfasserin aut Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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 chromatography-tandem 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. neonatal screening congenital adrenal hyperplasia second-tier steroid profiling incidence 11β-hydroxylase deficiency Pediatrics Diseases of the endocrine glands. Clinical endocrinology Başak Tezel verfasserin aut Meltem Çakır verfasserin aut Ayşehan Akıncı verfasserin aut Zerrin Orbak verfasserin aut Mehmet Keskin verfasserin aut Beray Selver Eklioğlu verfasserin aut Alev Ozon verfasserin aut Mehmet Nuri Özbek verfasserin aut Gülay Karagüzel verfasserin aut Nihal Hatipoğlu verfasserin aut Fatih Gürbüz verfasserin aut Filiz Mine Çizmecioğlu verfasserin aut Cengiz Kara verfasserin aut Enver Şimşek verfasserin aut Firdevs Baş verfasserin aut Murat Aydın verfasserin aut Feyza Darendeliler verfasserin aut In JCRPE Galenos Yayincilik, 2019 12(2020), 3, Seite 287-294 (DE-627)634757652 (DE-600)2571625-6 13085735 nnns volume:12 year:2020 number:3 pages:287-294 https://doi.org/10.4274/jcrpe.galenos.2020.2019.0182 kostenfrei https://doaj.org/article/7f7e63806add4ccfa5a30c6a2471ecb8 kostenfrei http://www.jcrpe.org/archives/archive-detail/article-preview/neonatal-screening-for-congenital-adrenal-hyperpla/36214 kostenfrei https://doaj.org/toc/1308-5727 Journal toc kostenfrei https://doaj.org/toc/1308-5735 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2020 3 287-294
allfieldsSound	10.4274/jcrpe.galenos.2020.2019.0182 doi (DE-627)DOAJ076005496 (DE-599)DOAJ7f7e63806add4ccfa5a30c6a2471ecb8 DE-627 ger DE-627 rakwb eng RJ1-570 RC648-665 Tülay Güran verfasserin aut Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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 chromatography-tandem 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. neonatal screening congenital adrenal hyperplasia second-tier steroid profiling incidence 11β-hydroxylase deficiency Pediatrics Diseases of the endocrine glands. Clinical endocrinology Başak Tezel verfasserin aut Meltem Çakır verfasserin aut Ayşehan Akıncı verfasserin aut Zerrin Orbak verfasserin aut Mehmet Keskin verfasserin aut Beray Selver Eklioğlu verfasserin aut Alev Ozon verfasserin aut Mehmet Nuri Özbek verfasserin aut Gülay Karagüzel verfasserin aut Nihal Hatipoğlu verfasserin aut Fatih Gürbüz verfasserin aut Filiz Mine Çizmecioğlu verfasserin aut Cengiz Kara verfasserin aut Enver Şimşek verfasserin aut Firdevs Baş verfasserin aut Murat Aydın verfasserin aut Feyza Darendeliler verfasserin aut In JCRPE Galenos Yayincilik, 2019 12(2020), 3, Seite 287-294 (DE-627)634757652 (DE-600)2571625-6 13085735 nnns volume:12 year:2020 number:3 pages:287-294 https://doi.org/10.4274/jcrpe.galenos.2020.2019.0182 kostenfrei https://doaj.org/article/7f7e63806add4ccfa5a30c6a2471ecb8 kostenfrei http://www.jcrpe.org/archives/archive-detail/article-preview/neonatal-screening-for-congenital-adrenal-hyperpla/36214 kostenfrei https://doaj.org/toc/1308-5727 Journal toc kostenfrei https://doaj.org/toc/1308-5735 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2020 3 287-294
language	English
source	In JCRPE 12(2020), 3, Seite 287-294 volume:12 year:2020 number:3 pages:287-294
sourceStr	In JCRPE 12(2020), 3, Seite 287-294 volume:12 year:2020 number:3 pages:287-294
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	neonatal screening congenital adrenal hyperplasia second-tier steroid profiling incidence 11β-hydroxylase deficiency Pediatrics Diseases of the endocrine glands. Clinical endocrinology
isfreeaccess_bool	true
container_title	JCRPE
authorswithroles_txt_mv	Tülay Güran @@aut@@ Başak Tezel @@aut@@ Meltem Çakır @@aut@@ Ayşehan Akıncı @@aut@@ Zerrin Orbak @@aut@@ Mehmet Keskin @@aut@@ Beray Selver Eklioğlu @@aut@@ Alev Ozon @@aut@@ Mehmet Nuri Özbek @@aut@@ Gülay Karagüzel @@aut@@ Nihal Hatipoğlu @@aut@@ Fatih Gürbüz @@aut@@ Filiz Mine Çizmecioğlu @@aut@@ Cengiz Kara @@aut@@ Enver Şimşek @@aut@@ Firdevs Baş @@aut@@ Murat Aydın @@aut@@ Feyza Darendeliler @@aut@@
publishDateDaySort_date	2020-01-01T00:00:00Z
hierarchy_top_id	634757652
id	DOAJ076005496
language_de	englisch
fullrecord	<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">DOAJ076005496</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230310181421.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">230228s2020 xx \|\|\|\|\|o 00\| \|\|eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.4274/jcrpe.galenos.2020.2019.0182</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)DOAJ076005496</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)DOAJ7f7e63806add4ccfa5a30c6a2471ecb8</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="050" ind1=" " ind2="0"><subfield code="a">RJ1-570</subfield></datafield><datafield tag="050" ind1=" " ind2="0"><subfield code="a">RC648-665</subfield></datafield><datafield tag="100" ind1="0" ind2=" "><subfield code="a">Tülay Güran</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2020</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">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 chromatography-tandem 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. 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callnumber-first	R - Medicine
author	Tülay Güran
spellingShingle	Tülay Güran misc RJ1-570 misc RC648-665 misc neonatal screening misc congenital adrenal hyperplasia misc second-tier misc steroid profiling misc incidence misc 11β-hydroxylase deficiency misc Pediatrics misc Diseases of the endocrine glands. Clinical endocrinology Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants
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topic_title	RJ1-570 RC648-665 Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants neonatal screening congenital adrenal hyperplasia second-tier steroid profiling incidence 11β-hydroxylase deficiency
topic	misc RJ1-570 misc RC648-665 misc neonatal screening misc congenital adrenal hyperplasia misc second-tier misc steroid profiling misc incidence misc 11β-hydroxylase deficiency misc Pediatrics misc Diseases of the endocrine glands. Clinical endocrinology
topic_unstemmed	misc RJ1-570 misc RC648-665 misc neonatal screening misc congenital adrenal hyperplasia misc second-tier misc steroid profiling misc incidence misc 11β-hydroxylase deficiency misc Pediatrics misc Diseases of the endocrine glands. Clinical endocrinology
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title	Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants
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title_full	Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants
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author_browse	Tülay Güran Başak Tezel Meltem Çakır Ayşehan Akıncı Zerrin Orbak Mehmet Keskin Beray Selver Eklioğlu Alev Ozon Mehmet Nuri Özbek Gülay Karagüzel Nihal Hatipoğlu Fatih Gürbüz Filiz Mine Çizmecioğlu Cengiz Kara Enver Şimşek Firdevs Baş Murat Aydın Feyza Darendeliler
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title_sort	neonatal screening for congenital adrenal hyperplasia in turkey: outcomes of extended pilot study in 241,083 infants
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title_auth	Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants
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 chromatography-tandem 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.
abstractGer	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 chromatography-tandem 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.
abstract_unstemmed	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 chromatography-tandem 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.
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title_short	Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants
url	https://doi.org/10.4274/jcrpe.galenos.2020.2019.0182 https://doaj.org/article/7f7e63806add4ccfa5a30c6a2471ecb8 http://www.jcrpe.org/archives/archive-detail/article-preview/neonatal-screening-for-congenital-adrenal-hyperpla/36214 https://doaj.org/toc/1308-5727 https://doaj.org/toc/1308-5735
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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 chromatography-tandem 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. 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Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants

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