ESPE Abstracts

Background: Mutations in the SUR1 subunit of the KATP channel encoded by the ABCC8 gene can result in diverse phenotypes ranging from Transient Neonatal Diabetes (TNDM) to type 2 diabetes in adulthood. These patients may benefit from sulphonylurea treatment.Objective and hypotheses: To describe the course of diabetes in two families with ABCC8 gene mutations and to assess the effect of sulphonylurea treatment.<p class="ab...

Background: The phenotype associated with heterozygous HNF1A gene mutations has recently been extended to include neonatal hyperinsulinaemic hypoglycaemia (HH) in addition to maturity-onset diabetes of the young (HNF1A–MODY).Objective and hypotheses: The baby boy was born at 38th week of gestation; BW 4110 g; BL 53 cm (LGA). The mother had gestational diabetes; her father is treated for diabetes mellitus from the age of 50 years. The boy de...

Background: Recently, a new monogenic cause of multiple immune system disorders and short stature has been attributed to germline activating mutations in the STAT3 gene encoding signal transducer and activator of transcription 3. Possible pathophysiological mechanisms include enhanced proliferation and activation of T-helper 17 cells and inhibition of regulatory T-cells by STAT3, as described in in vitro studies.Case presentation: The a...

Objectives: Recombinant growth hormone (rhGH) treatment helps to achieve a final height close to the parental growth potential in children with GH deficiency (GHD) and small for gestational age (SGA). Less is known about efficacy and safety of long term therapy with biosimilar rhGH. The aim of our study is to assess height gain and safety of therapy with biosimilar rhGH (Omnitrope®, Sandoz) in Czech children with GHD and SGA over the first three years of ...

Introduction: Maturity-Onset Diabetes of the Young (MODY) represents the most frequent form of monogenic diabetes. Genetic testing of Czech patients with clinical suspicion on MODY began 22 years ago. Aim of the study was to describe the prevalence of MODY subtypes among referred probands with diabetes and to define their clinical characteristics and possible differences.Methods: Clinical criteria for genetic testing of ...

Background: SGA-SS, defined as birth weight and/or birth length below -2SD for gestational age and postnatal statural height below -2.5SD according to age- and sex-specific standards, is a heterogeneous condition reflexing exogenous (maternal, placental) or endogenous (foetal) inadequacies. Within the past two decades, a handful of genetic causes of SGA-SS have been elucidated. However, how each genetic aetiology impacts individual GH treatment outcomes awaits...

Background: SGA-SS is a heterogeneous condition defined as birth weight and/or birth length below -2SD for gestational age and postnatal height below -2.5SD, according to age-and sex-specific normative values. Despite being an indication for growth hormone (GH) therapy for 15 years, aetiology and prediction of treatment outcomes in most of SGA-SS children awaits elucidation.Aim: To decipher genetic aetiologies among a la...

Background: Skeletal maturation is the most reliable indicator of biological age in children and adolescents. The evaluation of hand and wrist X-Ray according to Tanner-Whitehouse (TW3) or Greulich-Pyle (GP) are the most commonly used methods for biological age assessment. Automated bone age assessment has recently become increasingly popular, however a large independent study comparing automated and manual evaluation of bone age is still missing. The aim of this study was to ...

Background: Congenital hyperinsulinism of infancy represents a group of heterogeneous disorders characterized by over-secretion of insulin from pancreatic β cells causing severe hypoglycemia. Genetically, congenital hyperinsulinism is caused by defects in key genes regulating insulin secretion (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, UCP2, HNF4A, and non-constantly HNF1A). The aim of our pr...

Background: Terminal Xp-deletion causes a variant of Turner syndrome (TS). Several studies described the associated phenotype: gonadal function is generally preserved and short stature is the major clinical feature.Case presentation: We present a family with vertical transmission of TS affecting six women in four subsequent generations. SNP-array indicates that the chromosomal aberration in this family includes terminal Xp-deletion and terminal Xq-duplic...