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

05 - March - 2020

Neonates of ≥32 gestational weeks and ≥1500 gr birth weight from fourteen cities, born between May- December 2018, were included in the study. In the first step, 17α-hydroxyprogesterone (17-OHP) was measured by fluoroimmunoassay (Labsystems Diagnostics, Finland) in dried blood spots (DBS) obtained at 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.