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

• Published in: Journal of clinical research in pediatric endocrinology 2020-03
• Main Authors: Guran, Tulay, Tezel, Basak, Cakir, Meltem, Akinci, Aysehan, Orbak, Zerrin, Keskin, Mehmet, Selver Eklioglu, Beray, Ozon, Alev, Ozbek, Mehmet Nuri, Karaguzel, Gulay, Hatipoglu, Nihal, Gurbuz, Fatih, Cizmecioglu, Filiz Mine, Kara, Cengiz, Simsek, Enver, Bas, Firdevs, Aydin, Murat, Darendeliler, Feyza
• Format: Article
• Language: English
• ISSN: 1308-5735

Turkish Directorate of Public Health introduced the first pilot screening program for congenital adrenal hyperplasia (CAH) at four cities of Turkey in 2017, and then extended the program with a slight change in screening strategy in 2018 at fourteen cities. To evaluate the performance of the extended study and update our previous outcomes. Retrospective, descriptive study. Neonates of ≥32 gestational weeks and ≥1500 gr birth weight from fourteen cities, born between May-December, 2018 were included in the study. Screening protocol included one sample two-tier testing as applied in the previous pilot study. 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 ≥0.7 (instead of previous ≥0.5 cut-off value) were referred to pediatric endocrinology clinics for diagnostic assessment. 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 cases with salt-wasting and 4 cases with simple virilising), four cases were identified with 11β-hydroxylase deficiency (11β-OHD) CAH. No patients with salt-wasting CAH were missed by neonatal screening (sensitivity was 100%). The incidence of classical 21-OHD and 11β-OHD in the screened population was 1:15,067 and 1:60,270, respectively. Turkish neonatal CAH screening effectively leads to the early diagnosis of 21-OHD and 11β-OHD by the use of steroid profiling as a second-tier test allowing for better care of these patients in the future.