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

Objective: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 strategyMethods: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, 17α-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-OHD and one male baby had 11-OHD CAH. The incidence of classical 21-OHD 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. Ausführliche Beschreibung

Gespeichert in:

Autor*in:	Tülay Güran [verfasserIn] Başak Tezel [verfasserIn] Fatih Gürbüz [verfasserIn] Beray Selver Eklioğlu [verfasserIn] Nihal Hatipoğlu [verfasserIn] Cengiz Kara [verfasserIn] Enver Şimşek [verfasserIn] Filiz Mine Çizmecioğlu [verfasserIn] Alev Ozon [verfasserIn] Firdevs Baş [verfasserIn] Murat Aydın [verfasserIn] Feyza Darendeliler [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2019

Schlagwörter:	Newborn screening congenital adrenal hyperplasia second-tier steroid profiling

Übergeordnetes Werk:	In: JCRPE - Galenos Yayincilik, 2019, 11(2019), 1, Seite 13-23
Übergeordnetes Werk:	volume:11 ; year:2019 ; number:1 ; pages:13-23

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

DOI / URN:	10.4274/jcrpe.galenos.2018.2018.0117

Katalog-ID:	DOAJ00182371X

Internformat


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245	1	0	\|a Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants
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520			\|a Objective: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 strategyMethods: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, 17α-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-OHD and one male baby had 11-OHD CAH. The incidence of classical 21-OHD 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.
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allfields	10.4274/jcrpe.galenos.2018.2018.0117 doi (DE-627)DOAJ00182371X (DE-599)DOAJd5a9e17ac4384c83bc5cd06841996b64 DE-627 ger DE-627 rakwb eng RJ1-570 RC648-665 Tülay Güran verfasserin aut Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Objective: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 strategyMethods: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, 17α-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-OHD and one male baby had 11-OHD CAH. The incidence of classical 21-OHD 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. Newborn screening congenital adrenal hyperplasia second-tier steroid profiling Pediatrics Diseases of the endocrine glands. Clinical endocrinology Başak Tezel verfasserin aut Fatih Gürbüz verfasserin aut Beray Selver Eklioğlu verfasserin aut Nihal Hatipoğlu verfasserin aut Cengiz Kara verfasserin aut Enver Şimşek verfasserin aut Filiz Mine Çizmecioğlu verfasserin aut Alev Ozon verfasserin aut Firdevs Baş verfasserin aut Murat Aydın verfasserin aut Feyza Darendeliler verfasserin aut In JCRPE Galenos Yayincilik, 2019 11(2019), 1, Seite 13-23 (DE-627)634757652 (DE-600)2571625-6 13085735 nnns volume:11 year:2019 number:1 pages:13-23 https://doi.org/10.4274/jcrpe.galenos.2018.2018.0117 kostenfrei https://doaj.org/article/d5a9e17ac4384c83bc5cd06841996b64 kostenfrei http://www.jcrpe.org/archives/archive-detail/article-preview/neonatal-screening-for-congenital-adrenal-hyperpla/19485 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 11 2019 1 13-23
spelling	10.4274/jcrpe.galenos.2018.2018.0117 doi (DE-627)DOAJ00182371X (DE-599)DOAJd5a9e17ac4384c83bc5cd06841996b64 DE-627 ger DE-627 rakwb eng RJ1-570 RC648-665 Tülay Güran verfasserin aut Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Objective: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 strategyMethods: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, 17α-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-OHD and one male baby had 11-OHD CAH. The incidence of classical 21-OHD 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. Newborn screening congenital adrenal hyperplasia second-tier steroid profiling Pediatrics Diseases of the endocrine glands. Clinical endocrinology Başak Tezel verfasserin aut Fatih Gürbüz verfasserin aut Beray Selver Eklioğlu verfasserin aut Nihal Hatipoğlu verfasserin aut Cengiz Kara verfasserin aut Enver Şimşek verfasserin aut Filiz Mine Çizmecioğlu verfasserin aut Alev Ozon verfasserin aut Firdevs Baş verfasserin aut Murat Aydın verfasserin aut Feyza Darendeliler verfasserin aut In JCRPE Galenos Yayincilik, 2019 11(2019), 1, Seite 13-23 (DE-627)634757652 (DE-600)2571625-6 13085735 nnns volume:11 year:2019 number:1 pages:13-23 https://doi.org/10.4274/jcrpe.galenos.2018.2018.0117 kostenfrei https://doaj.org/article/d5a9e17ac4384c83bc5cd06841996b64 kostenfrei http://www.jcrpe.org/archives/archive-detail/article-preview/neonatal-screening-for-congenital-adrenal-hyperpla/19485 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 11 2019 1 13-23
allfields_unstemmed	10.4274/jcrpe.galenos.2018.2018.0117 doi (DE-627)DOAJ00182371X (DE-599)DOAJd5a9e17ac4384c83bc5cd06841996b64 DE-627 ger DE-627 rakwb eng RJ1-570 RC648-665 Tülay Güran verfasserin aut Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Objective: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 strategyMethods: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, 17α-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-OHD and one male baby had 11-OHD CAH. The incidence of classical 21-OHD 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. Newborn screening congenital adrenal hyperplasia second-tier steroid profiling Pediatrics Diseases of the endocrine glands. Clinical endocrinology Başak Tezel verfasserin aut Fatih Gürbüz verfasserin aut Beray Selver Eklioğlu verfasserin aut Nihal Hatipoğlu verfasserin aut Cengiz Kara verfasserin aut Enver Şimşek verfasserin aut Filiz Mine Çizmecioğlu verfasserin aut Alev Ozon verfasserin aut Firdevs Baş verfasserin aut Murat Aydın verfasserin aut Feyza Darendeliler verfasserin aut In JCRPE Galenos Yayincilik, 2019 11(2019), 1, Seite 13-23 (DE-627)634757652 (DE-600)2571625-6 13085735 nnns volume:11 year:2019 number:1 pages:13-23 https://doi.org/10.4274/jcrpe.galenos.2018.2018.0117 kostenfrei https://doaj.org/article/d5a9e17ac4384c83bc5cd06841996b64 kostenfrei http://www.jcrpe.org/archives/archive-detail/article-preview/neonatal-screening-for-congenital-adrenal-hyperpla/19485 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 11 2019 1 13-23
allfieldsGer	10.4274/jcrpe.galenos.2018.2018.0117 doi (DE-627)DOAJ00182371X (DE-599)DOAJd5a9e17ac4384c83bc5cd06841996b64 DE-627 ger DE-627 rakwb eng RJ1-570 RC648-665 Tülay Güran verfasserin aut Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Objective: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 strategyMethods: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, 17α-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-OHD and one male baby had 11-OHD CAH. The incidence of classical 21-OHD 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. Newborn screening congenital adrenal hyperplasia second-tier steroid profiling Pediatrics Diseases of the endocrine glands. Clinical endocrinology Başak Tezel verfasserin aut Fatih Gürbüz verfasserin aut Beray Selver Eklioğlu verfasserin aut Nihal Hatipoğlu verfasserin aut Cengiz Kara verfasserin aut Enver Şimşek verfasserin aut Filiz Mine Çizmecioğlu verfasserin aut Alev Ozon verfasserin aut Firdevs Baş verfasserin aut Murat Aydın verfasserin aut Feyza Darendeliler verfasserin aut In JCRPE Galenos Yayincilik, 2019 11(2019), 1, Seite 13-23 (DE-627)634757652 (DE-600)2571625-6 13085735 nnns volume:11 year:2019 number:1 pages:13-23 https://doi.org/10.4274/jcrpe.galenos.2018.2018.0117 kostenfrei https://doaj.org/article/d5a9e17ac4384c83bc5cd06841996b64 kostenfrei http://www.jcrpe.org/archives/archive-detail/article-preview/neonatal-screening-for-congenital-adrenal-hyperpla/19485 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 11 2019 1 13-23
allfieldsSound	10.4274/jcrpe.galenos.2018.2018.0117 doi (DE-627)DOAJ00182371X (DE-599)DOAJd5a9e17ac4384c83bc5cd06841996b64 DE-627 ger DE-627 rakwb eng RJ1-570 RC648-665 Tülay Güran verfasserin aut Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Objective: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 strategyMethods: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, 17α-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-OHD and one male baby had 11-OHD CAH. The incidence of classical 21-OHD 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. Newborn screening congenital adrenal hyperplasia second-tier steroid profiling Pediatrics Diseases of the endocrine glands. Clinical endocrinology Başak Tezel verfasserin aut Fatih Gürbüz verfasserin aut Beray Selver Eklioğlu verfasserin aut Nihal Hatipoğlu verfasserin aut Cengiz Kara verfasserin aut Enver Şimşek verfasserin aut Filiz Mine Çizmecioğlu verfasserin aut Alev Ozon verfasserin aut Firdevs Baş verfasserin aut Murat Aydın verfasserin aut Feyza Darendeliler verfasserin aut In JCRPE Galenos Yayincilik, 2019 11(2019), 1, Seite 13-23 (DE-627)634757652 (DE-600)2571625-6 13085735 nnns volume:11 year:2019 number:1 pages:13-23 https://doi.org/10.4274/jcrpe.galenos.2018.2018.0117 kostenfrei https://doaj.org/article/d5a9e17ac4384c83bc5cd06841996b64 kostenfrei http://www.jcrpe.org/archives/archive-detail/article-preview/neonatal-screening-for-congenital-adrenal-hyperpla/19485 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 11 2019 1 13-23
language	English
source	In JCRPE 11(2019), 1, Seite 13-23 volume:11 year:2019 number:1 pages:13-23
sourceStr	In JCRPE 11(2019), 1, Seite 13-23 volume:11 year:2019 number:1 pages:13-23
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Newborn screening congenital adrenal hyperplasia second-tier steroid profiling Pediatrics Diseases of the endocrine glands. Clinical endocrinology
isfreeaccess_bool	true
container_title	JCRPE
authorswithroles_txt_mv	Tülay Güran @@aut@@ Başak Tezel @@aut@@ Fatih Gürbüz @@aut@@ Beray Selver Eklioğlu @@aut@@ Nihal Hatipoğlu @@aut@@ Cengiz Kara @@aut@@ Enver Şimşek @@aut@@ Filiz Mine Çizmecioğlu @@aut@@ Alev Ozon @@aut@@ Firdevs Baş @@aut@@ Murat Aydın @@aut@@ Feyza Darendeliler @@aut@@
publishDateDaySort_date	2019-01-01T00:00:00Z
hierarchy_top_id	634757652
id	DOAJ00182371X
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">DOAJ00182371X</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230310182308.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">230225s2019 xx \|\|\|\|\|o 00\| \|\|eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.4274/jcrpe.galenos.2018.2018.0117</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)DOAJ00182371X</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)DOAJd5a9e17ac4384c83bc5cd06841996b64</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: A Pilot Study with 38,935 Infants</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2019</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: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 strategyMethods: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, 17α-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-OHD and one male baby had 11-OHD CAH. The incidence of classical 21-OHD 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.</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Newborn screening</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">congenital adrenal hyperplasia</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">second-tier</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">steroid profiling</subfield></datafield><datafield tag="653" ind1=" " ind2="0"><subfield code="a">Pediatrics</subfield></datafield><datafield tag="653" ind1=" " ind2="0"><subfield code="a">Diseases of the endocrine glands. 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callnumber-first	R - Medicine
author	Tülay Güran
spellingShingle	Tülay Güran misc RJ1-570 misc RC648-665 misc Newborn screening misc congenital adrenal hyperplasia misc second-tier misc steroid profiling misc Pediatrics misc Diseases of the endocrine glands. Clinical endocrinology Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants
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topic_title	RJ1-570 RC648-665 Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants Newborn screening congenital adrenal hyperplasia second-tier steroid profiling
topic	misc RJ1-570 misc RC648-665 misc Newborn screening misc congenital adrenal hyperplasia misc second-tier misc steroid profiling misc Pediatrics misc Diseases of the endocrine glands. Clinical endocrinology
topic_unstemmed	misc RJ1-570 misc RC648-665 misc Newborn screening misc congenital adrenal hyperplasia misc second-tier misc steroid profiling misc Pediatrics misc Diseases of the endocrine glands. Clinical endocrinology
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title	Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants
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title_full	Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants
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author_browse	Tülay Güran Başak Tezel Fatih Gürbüz Beray Selver Eklioğlu Nihal Hatipoğlu Cengiz Kara Enver Şimşek Filiz Mine Çizmecioğlu Alev Ozon Firdevs Baş Murat Aydın Feyza Darendeliler
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title_sort	neonatal screening for congenital adrenal hyperplasia in turkey: a pilot study with 38,935 infants
callnumber	RJ1-570
title_auth	Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants
abstract	Objective: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 strategyMethods: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, 17α-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-OHD and one male baby had 11-OHD CAH. The incidence of classical 21-OHD 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.
abstractGer	Objective: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 strategyMethods: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, 17α-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-OHD and one male baby had 11-OHD CAH. The incidence of classical 21-OHD 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.
abstract_unstemmed	Objective: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 strategyMethods: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, 17α-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-OHD and one male baby had 11-OHD CAH. The incidence of classical 21-OHD 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.
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title_short	Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants
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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-OHD and one male baby had 11-OHD CAH. The incidence of classical 21-OHD 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. 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Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants

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