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

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GÜRAN T., Tezel B., GÜRBÜZ F., EKLİOĞLU B. S., HATİPOĞLU N., Kara C., ...Daha Fazla

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.11, sa.1, ss.13-23, 2019 (SCI-Expanded) identifier identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 11 Sayı: 1
  • Basım Tarihi: 2019
  • Doi Numarası: 10.4274/jcrpe.galenos.2018.2018.0117
  • Dergi Adı: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.13-23
  • Anahtar Kelimeler: Newborn screening, congenital adrenal hyperplasia, second-tier, steroid profiling, TANDEM MASS-SPECTROMETRY, 21-HYDROXYLASE DEFICIENCY, STEROID PROFILE, BLOOD, 21-DEOXYCORTISOL, PREVALENCE, MUTATIONS, PROGRAM
  • Ondokuz Mayıs Üniversitesi Adresli: Evet

Özet

Objective: 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 (SW) form and in reducing mortality. in this study, our aim was to estimate the incidence of CAH in Turkey and to assess the characteristics and efficacy of the adopted newborn CAH screening strategy.