Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive K-ATP channel mutations


Demirbilek H., Arya V. B., Ozbek M. N., AKINCI A., Dogan M., Demirel F., ...More

EUROPEAN JOURNAL OF ENDOCRINOLOGY, vol.170, no.6, pp.885-892, 2014 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 170 Issue: 6
  • Publication Date: 2014
  • Doi Number: 10.1530/eje-14-0045
  • Journal Name: EUROPEAN JOURNAL OF ENDOCRINOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.885-892
  • Van Yüzüncü Yıl University Affiliated: Yes

Abstract

Objective: Congenital hyperinsulinism (CHI) is the commonest cause of hyperinsulinaemic hypoglycaemia in the neonatal, infancy and childhood periods. Its clinical presentation, histology and underlying molecular biology are extremely heterogeneous. The aim of this study was to describe the clinical characteristics, analyse the genotype phenotype correlations and describe the treatment outcome of Turkish CHI patients.