hrp0092p1-69 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Molecular Mechanisms of Idiopathic Ketotic Hypoglycemia in Children

Ivannikova Tatiana , Milovanova Natalya , Zakharova Ekaterina , Gubayeva Dilyara , Kareva Maria , Melikyan Maria

Idiopathic Ketotic Hypoglycemia (IKH) is the most common non-iatrogenic cause of hypoglycemia in children beyond infancy. The severity of the symptoms and frequency of hypoglycemic episodes may vary among the patients. The etiology of IKH is unclear; disturbances in gluconeogenesis, glycolysis and glycogenolysis were regarded as possible causes. Familial IKH recurrence is often observed, suggesting a genetic basis of glucose homeostasis dysregulation.We ...

hrp0089p3-p009 | Adrenals and HPA Axis P3 | ESPE2018

Early Diagnosis of Duchenne Muscular Dystrophy in 6-Months-Old Male with Primary Adrenal Insufficiency

Yanar Eda , Kopylova Irina , Kanivets Ilya , Korostelev Sergey , Pyankov Denis , Zakharova Ekaterina , Kareva Maria , Orlova Elizaveta

Background: Adrenal hypoplasia congenital associated with DAX-1 (NROB1) gene mutations is a rare cause of primary adrenal insufficiency in male. It can be presented as a part of Xp21 contiguous gene deletion syndrome which characterized by complex glycerol kinase deficiency (GK), adrenal hypoplasia congenital (NROB1), intellectual disability (IL1RAPL1) and/or Duchenne muscular dystrophy (DMD).Case report: We report a 6-month-old male infant, which presen...

hrp0084p2-202 | Adrenals | ESPE2015

Autoimmune Polyglandular Syndrome Type 1 in Russia: Clinical Experience in 112 Patients

Orlova Elizaveta , Sozaeva Leila , Kareva Maria , Oftedal Bergithe E , Breivik Lars , Knappskog Per M , Zakharova Ekaterina , Husebye Eystein S , Peterkova Valentina

Background: Autoimmune polyglandular syndrome type 1 (APS-1) is a rare disease associated with mutations in the autoimmune regulator (AIRE) gene and characterized by mucocutaneous candidiasis (CMC), hypoparathyroidism (HP) and primary adrenal insufficiency (AI). Two of these three components are required for diagnosis.Objective and hypotheses: To describe Russian patients in terms of clinical, genetic, and immunological parameters....