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., ...More

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, vol.11, no.1, pp.13-23, 2019 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 11 Issue: 1
  • Publication Date: 2019
  • Doi Number: 10.4274/jcrpe.galenos.2018.2018.0117
  • Journal Name: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.13-23
  • Keywords: Newborn screening, congenital adrenal hyperplasia, second-tier, steroid profiling, TANDEM MASS-SPECTROMETRY, 21-HYDROXYLASE DEFICIENCY, STEROID PROFILE, BLOOD, 21-DEOXYCORTISOL, PREVALENCE, MUTATIONS, PROGRAM
  • Eskisehir Osmangazi University Affiliated: Yes

Abstract

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.