ISSN: 1308-5727 | E-ISSN: 1308-5735
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Turkish Society for Pediatric Endocrinology and Diabetes
Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2019; 11(1): 13-23 | DOI: 10.4274/jcrpe.galenos.2018.2018.0117

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

Tülay Güran1, Başak Tezel2, Fatih Gürbüz3, Beray Selver Eklioğlu4, Nihal Hatipoğlu5, Cengiz Kara6, Enver Şimşek7, Filiz Mine Çizmecioğlu8, Alev Ozon9, Firdevs Baş10, Murat Aydın6, Feyza Darendeliler10
1Marmara University Faculty of Medicine, Department of Paediatric Endocrinology and Diabetes, İstanbul, Turkey
2Turkish Directorate of Public Health, Ankara, Turkey
3Çukurova University Faculty of Medicine, Department of Paediatric Endocrinology and Diabetes, Adana, Turkey
4Necmettin Erbakan University Meram Faculty of Medicine, Department of Paediatric Endocrinology and Diabetes, Konya, Turkey
5Erciyes University Faculty of Medicine, Department of Paediatric Endocrinology and Diabetes, Kayseri, Turkey
6Ondokuz Mayıs University Faculty of Medicine, Department of Paediatric Endocrinology and Diabetes, Samsun, Turkey
7Osmangazi University Faculty of Medicine, Department of Paediatric Endocrinology and Diabetes, Eskişehir, Turkey
8Kocaeli University Faculty of Medicine, Department of Paediatric Endocrinology and Diabetes, Kocaeli, Turkey
9Hacettepe University Faculty of Medicine, Department of Paediatric Endocrinology and Diabetes, Ankara, Turkey
10İstanbul 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 strategy
Methods: 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, 17?-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.

Keywords: Newborn screening, congenital adrenal hyperplasia, second-tier, steroid profiling

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. J Clin Res Pediatr Endocrinol. 2019; 11(1): 13-23
Manuscript Language: English
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