hrp0084p3-1075 | Hypo | ESPE2015

Genetic Causes of Congenital Hyperinsulinism in Slovakia

Stanik Juraj , Valentinova Lucia , Skopkova Martina , Rosolankova Monika , Stanikova Daniela , Ticha Lubica , Gasperikova Daniela , Klimes Iwar

Background: Congenital hyperinsulinism (CHI) is the most common cause of the persistent hypoglycemia in children. Mutations in KCNJ11 and ABCC8 genes coding potassium channel subunits are responsible for a significant proportion of CHI patients. The type of mutation correlates with the type of B-cell hyperplasia (focal or diffuse), and determinates further diagnostics, treatment and prognosis of disorder.Aims and objectives: The aim of ...

hrp0084p3-903 | Fat | ESPE2015

Genotype and Phenotype Characterisation in Two Patients with MEHMO Syndrome

Stanik Juraj , Skopkova Martina , Stanikova Daniela , Ukropec Jozef , Danis Daniel , Kurdiova Timea , Ukropcova Barbara , Ticha Lubica , Klimes Iwar , Gasperikova Daniela

Background: MEHMO (microcephaly, epilepsy, hypogenitalism, mental retardation, obesity) is a rare disorder with X-linked inheritance. Only three families with this disorder were described previously, with the linkage to a region on X chromosome. No specific gene has been identified so far.Aims and objectives: The aim was to identify the genetic etiology in two unrelated Slovak male probands (4.5 and 1.5 years old respectively) with the clinical diagnosis...