hrp0092p2-91 | Diabetes and Insulin | ESPE2019

A Novel Variant of the WFS1 Gene with Dominant Inheritance Causing Wolfram-like Syndrome

Stanik Juraj , Skopkova Martina , Varga Lukas , Masindova Ivica , Jancova Emilia , Profant Milan , Gasperikova Daniela

Aims/hypothesis: The Wolfram syndrome, also known as the DIDMOAD syndrome (Diabetes Insipidus, early-onset Diabetes Mellitus, progressive Optic Atrophy, and Deafness), is mostly associated with recessive mutations in the WFS1 gene. However, dominant mutations in the WFS1 gene were described as causing less severe Wolfram-like syndrome, or isolated optic atrophy, or low-frequency sensorineural hearing loss.Method...

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...

hrp0097p1-93 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Incidence and etiology of congenital hyperinsulinism in Slovakia

Lobotkova Denisa , Minova Martina , Ferenczova Juliana , Dankovcikova Adriana , Sevecova Maria , Tarnokova Simona , Huckova Miroslava , Skopkova Martina , Gasperikova Daniela , Stanik Juraj

Background: Congenital hyperinsulinism (CHI) is the most common cause of the persistent hypoglycemia in children and occurs in approximately 1 in 50,000 live births. Genetic testing provides information on the pancreatic histological subtype (i.e. focal vs diffuse) and determines further management and prognosis of the patients. At least 11 known monogenic forms and several syndromes have been associated with CHI. Mutations in ABCC8 and KCNJ11 genes coding pot...