ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 16 Issue: 3 Year: 2024
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Turkish Society for Pediatric Endocrinology and Diabetes
Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2020; 12(3): 287-294 | DOI: 10.4274/jcrpe.galenos.2020.2019.0182

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

Tülay Güran1, Başak Tezel2, Meltem Çakır3, Ayşehan Akıncı4, Zerrin Orbak5, Mehmet Keskin6, Beray Selver Eklioğlu7, Alev Ozon8, Mehmet Nuri Özbek9, Gülay Karagüzel10, Nihal Hatipoğlu11, Fatih Gürbüz12, Filiz Mine Çizmecioğlu13, Cengiz Kara14, Enver Şimşek15, Firdevs Baş16, Murat Aydın14, Feyza Darendeliler16
1Marmara University Faculty of Medicine, Department of Paediatric Endocrinology and Diabetes, İstanbul, Turkey
2Turkish Directorate of Public Health, Ankara, Turkey
3Mersin City Hospital, Clinic of Paediatric Endocrinology and Diabetes, Mersin, Turkey
4İnönü University Faculty of Medicine, Department of Paediatric Endocrinology and Diabetes, Malatya, Turkey
5Atatürk University Faculty of Medicine, Department of Paediatric Endocrinology and Diabetes, Erzurum, Turkey
6Gaziantep University Faculty of Medicine, Department of Paediatric Endocrinology and Diabetes, Gaziantep, Turkey
7Necmettin Erbakan University, Meram Faculty of Medicine, Department of Paediatric Endocrinology and Diabetes, Konya, Turkey
8Hacettepe University Faculty of Medicine, Department of Paediatric Endocrinology and Diabetes, Ankara, Turkey
9Gazi Yaşargil Training and Research Hospital, Department of Paediatric Endocrinology and Diabetes, Diyarbakır, Turkey
10Karadeniz Techical University Faculty of Medicine, Department of Paediatric Endocrinology and Diabetes, Trabzon, Turkey
11Erciyes University Faculty of Medicine, Department of Paediatric Endocrinology and Diabetes, Kayseri, Turkey
12Çukurova University Faculty of Medicine, Department of Paediatric Endocrinology and Diabetes, Adana, Turkey
13Kocaeli University Faculty of Medicine, Department of Paediatric Endocrinology and Diabetes, Kocaeli, Turkey
14Ondokuz Mayıs University Faculty of Medicine, Department of Paediatric Endocrinology and Diabetes, Samsun, Turkey
15Osmangazi University Faculty of Medicine, Department of Paediatric Endocrinology and Diabetes, Eskişehir, Turkey
16İstanbul University İstanbul Faculty of Medicine, Department of Paediatric Endocrinology, İstanbul, Turkey

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, 17?-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 11ß-OHD CAH. No case of salt-wasting CAH was missed by neonatal screening (sensitivity was 100%). The incidence of classical 21-OHD and 11ß-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 11ß-OHD, using steroid profiling as a second-tier test. This will result in improved care of these patients in the future.

Keywords: Neonatal screening, congenital adrenal hyperplasia, second-tier, steroid profiling, incidence, 11ß-hydroxylase deficiency

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. Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants. J Clin Res Pediatr Endocrinol. 2020; 12(3): 287-294
Manuscript Language: English
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