ESPE Abstracts

Background: Congenital hyperinsulinism (CHI) has not been studied in the Ukraine.Objective and hypotheses: We investigated the genetic aetiology and treatment of patients with CHI.Method: Routine clinical and laboratory investigations were performed in children with hypoglycaemia. Genetic testing was undertaken for seven patients with CHI from 9 families. KCNJ11, ABCC8, HNF4A genes were sequenced in all patients. For those...

Introduction: The pathology of thyroid gland is Ukraine is quite common and in 2018y included 277,708 patients with diffuse goiter (36.47 per 1000 population), 2,311 patients (0.30:1000) with nodular goiter, 341 patients with diffuse toxic goiter (0.04:1000), 7,157 (0.94:1000) with autoimmune thyroid disease and 129 patients with thyroid cancer (1.7:100000). However the syndrome of resistance to thyroid hormone (RTH) or Familial Dysalbuminemic Hyperthyroxinemi...

Introduction: The birth of a child with disorders of sex development (DSD) requires a long-term strategy of monitoring and treatment which is carried out by a multidisciplinary group of professional physicians, with a mandatory understanding of the psychosocial problems in a child and parents.Materials and Methods: Gender self-identification was investigated in 20 children and adolescents with DSD aged 1.5-17 years. To d...

Background: We established a neonatal section of the Ukrainian Pediatric Diabetes Registry (UPDR) to identify cases of neonatal diabetes (ND).Objective and hypotheses: We investigated the genetic etiology and treatment of patients with ND.Method: According to the UPDR the number of children (0–17 y.o) with DM1 in 2015 was 8388 (a prevalence of one in 907), with DM2 – 36 (one in 211519) and with ND – 52 (one in 146436...

Background: In this study we investigated mortality in children with monogenic diabetes.Methods: Within the Ukrainian Pediatric Diabetes Register (UPDR) the number of children with type 1 diabetes mellitus (DM1) 0-17 y.o. in 2019 was 9860 (1 in 769), with DM2 - 36 (1 in 210,547) with neonatal DM (NDM) - 66 (1 in 115,000), with MODY - 40 cases (1 in 114,844). We used targeted next generation sequencing (tNGS) of all known...

Background/Aims: 46,XY gonadal dysgenesis (GD) is classified as complete (CGD) or partial (PGD) depending on gonadal morphology and function. In contrast to the typical female external genitalia in CGD, the phenotype of PGD is variable depending on androgen production. A diagnosis of PGD is based on clinical/biochemical features, gonadal histology and genetic findings. The aim of this study is to characterise these features, particularly histological, in a lar...