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

Demirbilek, HÜSEYİN; Arya, Ved; Ozbek, Mehmet; AKINCI, AYŞEHAN; Dogan, Murat; Demirel, Fatma; Houghton, Jayne; Kaba, Sultan; Guzel, Fatma; Baran, Riza; Unal, Sevim; Tekkes, Selahattin; Flanagan, Sarah; Ellard, Sian; Hussain, Khalid

doi:10.1530/eje-14-0045

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

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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)

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
Hacettepe 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.