Original Article

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

10.4274/jcrpe.0117

  • Tülay Güran
  • Başak Tezel
  • Fatih Gürbüz
  • Beray Selver Eklioğlu
  • Nihal Hatipoğlu
  • Cengiz Kara
  • Murat Aydın
  • Enver Simşek
  • Filiz Mine Çizmecioğlu
  • Alev Ozon
  • Firdevs Baş
  • Feyza Darendeliler

Received Date: 15.05.2018 Accepted Date: 10.08.2018 J Clin Res Pediatr Endocrinol 0;0(0):0-0 [e-Pub] PMID: 30111524

Background:

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 form and reducing mortality.

Aim:

To estimate incidence of CAH in Turkey and to assess the characteristics and efficacy of the adopted newborn CAH screening strategy.

Method:

A pilot newborn CAH screening study was carried out under the authority of Turkish Directorate of Public Health. Newborn babies ≥32 gestational weeks and ≥1500 gr birth weight from four cities between March 27- September 15, 2017 were included. Screening protocol included one sample two-tier testing. In the first step, 17α-hydroxyprogesterone (17-OHP) was measured by fluoroimmunoassay in dried blood spots obtained at 3-5th days of life. The cases with positive initial screening were tested by steroid profiling in dried blood spots using liquid chromatography-tandem mass spectrometry method to measure 17-OHP, 21-deoxycortisol, cortisol, 11-deoxycortisol and androstenedione as a second-tier test. The babies with steroid ratio of (21-deoxycortisol+17-OHP)/cortisol≥0.5 were referred to pediatric endocrinology clinics fordiagnostic assessment.

Results:

38,935 infants were tested, 2265 (5.82%) had second-tier testing, and 212 (0.54%) were referred for clinical assessment, 6 of whom were diagnosed with CAH (four males, two females). Four cases were identified as salt-wasting 21-hydroxylase deficiency (21-OHD) (2 males,2 females), one male baby had simple virilizing 21-OHD, 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 in comparison to previous reports. Thus, it is suggested to add CAH to newborn screening panel in Turkey. The use of steroid profiling as a second-tier test improves the efficacy of the screening and reduces false-positives.

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