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...
| Main Authors: | , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Galenos Yayincilik
2019-03-01
|
| Series: | JCRPE |
| Subjects: | |
| Online Access: |
http://www.jcrpe.org/archives/archive-detail/article-preview/neonatal-screening-for-congenital-adrenal-hyperpla/19485
|
| _version_ | 1828023572814102528 |
|---|---|
| author | 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 |
| author_facet | 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 |
| author_sort | Tülay Güran |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-10T12:30:15Z |
| format | Article |
| id | doaj.art-d5a9e17ac4384c83bc5cd06841996b64 |
| institution | Directory Open Access Journal |
| issn | 1308-5727 1308-5735 |
| language | English |
| last_indexed | 2024-04-10T12:30:15Z |
| publishDate | 2019-03-01 |
| publisher | Galenos Yayincilik |
| record_format | Article |
| series | JCRPE |
| spelling | doaj.art-d5a9e17ac4384c83bc5cd06841996b642023-02-15T16:14:59ZengGalenos YayincilikJCRPE1308-57271308-57352019-03-01111132310.4274/jcrpe.galenos.2018.2018.011713049054Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 InfantsTülay Güran0Başak Tezel1Fatih Gürbüz2Beray Selver Eklioğlu3Nihal Hatipoğlu4Cengiz Kara5Enver Şimşek6Filiz Mine Çizmecioğlu7Alev Ozon8Firdevs Baş9Murat Aydın10Feyza Darendeliler11 Marmara University Faculty of Medicine, Department of Paediatric Endocrinology and Diabetes, İstanbul, Turkey Turkish Directorate of Public Health, Ankara, Turkey Çukurova University Faculty of Medicine, Department of Paediatric Endocrinology and Diabetes, Adana, Turkey Necmettin Erbakan University Meram Faculty of Medicine, Department of Paediatric Endocrinology and Diabetes, Konya, Turkey Erciyes University Faculty of Medicine, Department of Paediatric Endocrinology and Diabetes, Kayseri, Turkey Ondokuz Mayıs University Faculty of Medicine, Department of Paediatric Endocrinology and Diabetes, Samsun, Turkey Osmangazi University Faculty of Medicine, Department of Paediatric Endocrinology and Diabetes, Eskişehir, Turkey Kocaeli University Faculty of Medicine, Department of Paediatric Endocrinology and Diabetes, Kocaeli, Turkey Hacettepe University Faculty of Medicine, Department of Paediatric Endocrinology and Diabetes, Ankara, Turkey İstanbul University İstanbul Faculty of Medicine, Department of Paediatric Endocrinology and Diabetes, İstanbul, Turkey Ondokuz Mayıs University Faculty of Medicine, Department of Paediatric Endocrinology and Diabetes, Samsun, Turkey İstanbul University İstanbul Faculty of Medicine, Department of Paediatric Endocrinology and Diabetes, İstanbul, Turkey 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. http://www.jcrpe.org/archives/archive-detail/article-preview/neonatal-screening-for-congenital-adrenal-hyperpla/19485 Newborn screeningcongenital adrenal hyperplasiasecond-tiersteroid profiling |
| spellingShingle | 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 Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants JCRPE Newborn screening congenital adrenal hyperplasia second-tier steroid profiling |
| title | Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants |
| title_full | Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants |
| title_fullStr | Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants |
| title_full_unstemmed | Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants |
| title_short | Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants |
| title_sort | neonatal screening for congenital adrenal hyperplasia in turkey a pilot study with 38 935 infants |
| topic | Newborn screening congenital adrenal hyperplasia second-tier steroid profiling |
| url |
http://www.jcrpe.org/archives/archive-detail/article-preview/neonatal-screening-for-congenital-adrenal-hyperpla/19485
|
| work_keys_str_mv | AT tulayguran neonatalscreeningforcongenitaladrenalhyperplasiainturkeyapilotstudywith38935infants AT basaktezel neonatalscreeningforcongenitaladrenalhyperplasiainturkeyapilotstudywith38935infants AT fatihgurbuz neonatalscreeningforcongenitaladrenalhyperplasiainturkeyapilotstudywith38935infants AT berayselvereklioglu neonatalscreeningforcongenitaladrenalhyperplasiainturkeyapilotstudywith38935infants AT nihalhatipoglu neonatalscreeningforcongenitaladrenalhyperplasiainturkeyapilotstudywith38935infants AT cengizkara neonatalscreeningforcongenitaladrenalhyperplasiainturkeyapilotstudywith38935infants AT enversimsek neonatalscreeningforcongenitaladrenalhyperplasiainturkeyapilotstudywith38935infants AT filizminecizmecioglu neonatalscreeningforcongenitaladrenalhyperplasiainturkeyapilotstudywith38935infants AT alevozon neonatalscreeningforcongenitaladrenalhyperplasiainturkeyapilotstudywith38935infants AT firdevsbas neonatalscreeningforcongenitaladrenalhyperplasiainturkeyapilotstudywith38935infants AT murataydın neonatalscreeningforcongenitaladrenalhyperplasiainturkeyapilotstudywith38935infants AT feyzadarendeliler neonatalscreeningforcongenitaladrenalhyperplasiainturkeyapilotstudywith38935infants |