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hrp0082fc9.4 | Beta cells | ESPE2014

Clinical Characteristics and Molecular Genetics Analysis of 20 Patients with Neonatal Diabetes Mellitus from a Single Centre of the South-Eastern Region of Turkey

Demirbilek Huseyin , Arya Ved Bhushan , Nuri Ozbek Mehmet , Houghton Jayne , Baran Riza Taner , Tekkes Selahattin , Mackay Deborah , Flanagan Sarah E , Ellard Sian , Hussain Khalid

Background: Neonatal diabetes mellitus (NDM), either transient (TNDM) or permanent (PNDM), is a rare form of monogenic diabetes, and usually presents in the first 6 months of life.Objective and Hypotheses: To describe the clinical characteristics and molecular genetics of a large Turkish cohort of NDM from a single centre.Method: NDM patients presenting to Diyarbakır Children State Hospital between 2010 and 2013 were prospecti...

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hrp0082p3-d1-874 | Perinatal and Neonatal Endocrinology | ESPE2014

Clinical Characteristics and Phenotype–Genotype Analysis in Turkish Patients with Congenital Hyperinsulinism; Predominance of Recessive K_ATP Channel Mutations

Demirbilek Huseyin , Arya Ved Bhushan , Ozbek Mehmet Nuri , Akinci Aysehan , Dogan Murat , Demirel Fatma , Houghton Jayne , Kaba Sultan , Guzel Fatma , Baran Riza Taner , Unal Sema , Tekkes Selahattin , Flanagan Sarah E , Ellard Sian , Husssain Khalid

Background: Congenital hyperinsulinism (CHI) is the most common cause of hyperinsulinaemic hypoglycaemia in the neonatal, infancy, and childhood periods. Its clinical presentation, histology and underlying molecular biology are extremely heterogeneous.Objective and hypotheses: To describe the clinical characteristics, analyse the genotypephenotype correlations and describe the treatment outcome of Turkish CHI patients.Method:...

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ESPE Abstracts

Clinical Characteristics and Molecular Genetics Analysis of 20 Patients with Neonatal Diabetes Mellitus from a Single Centre of the South-Eastern Region of Turkey

Clinical Characteristics and Phenotype–Genotype Analysis in Turkish Patients with Congenital Hyperinsulinism; Predominance of Recessive K_ATP Channel Mutations

BiosciAbstracts

ESPE Abstracts

Clinical Characteristics and Molecular Genetics Analysis of 20 Patients with Neonatal Diabetes Mellitus from a Single Centre of the South-Eastern Region of Turkey

Clinical Characteristics and Phenotype–Genotype Analysis in Turkish Patients with Congenital Hyperinsulinism; Predominance of Recessive KATP Channel Mutations

BiosciAbstracts

Clinical Characteristics and Phenotype–Genotype Analysis in Turkish Patients with Congenital Hyperinsulinism; Predominance of Recessive K_ATP Channel Mutations