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

• DOI: 10.4274/jcrpe.galenos.2018.2018.0117
• Publication Date: 2019-02-20T08:59:53Z
• Authors: Tülay Güran; Başak Tezel; Fatih Gürbüz; Beray Selver Ekli...; Nihal Hatipoğlu; Cengiz Kara; Enver Şimşek; Filiz Mine Çizmec...; Alev Ozon; Firdevs Baş; Murat Aydın; Feyza Darendeliler
• Keywords: Primary Adrenal Insufficiency; 21-Hydroxylase; Pediatric endocrinology; Dried blood

Congenital adrenal hyperplasia (CAH) is the most common form of primary insufficiency in children. Neonatal screening for CAH effective detecting salt-wasting (SW) and reducing mortality. In this study, our aim was to estimate incidence Turkey assess characteristics efficacy adopted newborn strategy.A pilot study carried out under authority Turkish Directorate Public Health. Newborn babies ≥32 gestational weeks ≥1500 gr birth weight from four cities, born between March 27-September 15, 2017 were included study. Screening protocol one sample two-tier testing. first step, 17α-hydroxyprogesterone (17-OHP) measured by fluoroimmunoassay dried blood spots (DBS) obtained at 3-5 days life. The cases with positive initial tested steroid profiling DBS using a liquid chromatography-tandem mass spectrometry method measure 17-OHP, 21-deoxycortisol (21-S), cortisol (F), 11-deoxycortisol androstenedione as second-tier test. ratio (21-S+17-OHP)/F ≥0.5 referred pediatric endocrinology clinics diagnostic assessment.38,935 infants tested, 2265 (5.82%) required testing 212 (0.54%) clinical assessment, six whom diagnosed (four males, two females). Four identified SW 21-hydroxylase deficiency (21-OHD) (two One male baby had simple virilizing 21-OHD 11-OHD CAH. classical screened population 1:7,787.The due higher compared previous reports. We, therefore, suggest that be added panel Turkey. use test found improve reduce number false-positives.