hrp0082fc3.2 | Diabetes | ESPE2014

HbA1c Level as a Predictive Marker of Progression to Clinical Diabetes

Petruzelkova Lenka , Vcelakova Jana , Labikova Jana , Lebl Jan , Kolouskova Stanislava

Background: It has been shown that a proportion of relatives with multiple islet auto antibodies do not develop diabetes for many years, indicating that a more accurate marker of advanced insulitis is needed.Objective and Hypotheses: We evaluated whether the level of HbA1c can discriminate children at risk of T1D onset in a cohort of auto antibody positive relatives.Method: A total of 74 subjects <18 years of age who were parti...

hrp0084p2-266 | Diabetes | ESPE2015

Increased Arterial Wall Stiffness in Children with Type 1 Diabetes and Poor Metabolic Control: An Early Marker of Vascular Complications?

Obermannova Barbora , Petruzelkova Lenka , Sulakova Terezie , Sumnik Zdenek

Background: The prevalence of macrovascular complications is probably underestimated in children with type 1 diabetes (T1D). Arterial stiffness (AS) represents a subclinical marker of CV risk. The most validated non-invasive method for AS measurement is pulse wave velocity (PWV). There are limited numbers of studies with PWV on children with T1D.Aim: Our aim was to assess the relationship between AS and parameters associated with metabolic control in chi...

hrp0092fc12.2 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

NPR2 Gene Mutations were Found in 5.4% Children with Familial Short Stature

Plachy Lukas , Petruzelkova Lenka , Strakova Veronika , Elblova Lenka , Kucerova Petra , Obermannova Barbora , Kolouskova Stanislava , Snajderova Marta , Zemkova Dana , Dusatkova Petra , Lebl Jan , Sumnik Zdenek , Pruhova Stepanka

Introduction: C-type natriuretic peptide receptor encoded by NPR2 gene stimulates chondrocyte differentiation and hypertrophy and extracellular matrix production within the growth plate. The phenotypical spectrum of NPR2 mutations is broad, from severe autosomal recessive acromesomelic dysplasia to milder autosomal dominant growth disorders. Some children with NPR2 variants are treated with growth hormone (GH), however, with the inco...

hrp0095fc7.1 | Growth and Syndromes | ESPE2022

How to detect children with monogenic etiology of familial short stature?

Plachy Lukas , Petruzelkova Lenka , Dusatkova Petra , Maratova Klara , Zemkova Dana , Kolouskova Stanislava , Snajderova Marta , Obermannova Barbora , Sumnik Zdenek , Lebl Jan , Pruhova Stepanka

Introduction: Familial short stature (FSS) describes vertically transmitted growth disorders. Traditionally, polygenic inheritance is presumed, but monogenic inheritance seems to occur more frequently than expected. Clinical predictors of monogenic FSS have not been elucidated thus far. The aim of the study was to identify the monogenic etiology and its clinical predictors in FSS children.Patients and Methods: Of 747 pat...

hrp0095p1-100 | GH and IGFs | ESPE2022

Aetiology of familial short stature in children diagnosed with growth hormone deficiency: what do the genes tell us?

Anne Amaratunga Shenali , Dusatkova Petra , Maratova Klara , Petruzelkova Lenka , Zemkova Dana , Kolouskova Stanislava , Snajderova Marta , Obermannova Barbora , Sumnik Zdenek , Lebl Jan , Pruhova Stepanka , Plachy Lukas

Introduction: The diagnosis of growth hormone deficiency (GHD) is complex, involving the combination of auxological, laboratory, and radiological findings. This includes growth hormone (GH) stimulation tests, which are done to confirm the diagnosis. It has been discussed that these tests have low specificity, potentially leading to false positive results. Therefore, children with GHD are regarded as a heterogeneous group with varied causes of short stature. Ne...

hrp0095rfc7.3 | Growth and Syndromes | ESPE2022

Genetic analysis of children with clinically non-syndromic tall stature

Adamovicova Katerina , Plachy Lukas , Dusatkova Petra , Lebl Jan , Maratova Klara , Sumnik Zdenek , Neuman Vit , Petruzelkova Lenka , Snajderova Marta , Obermannova Barbora , Kolouskova Stanislava , Malikova Jana , Pruhova Stepanka

Introduction: The genetic investigation of tall stature (TS) is routinely indicated only in children with clinical suspicion of a specific syndrome associated with TS. After ruling out an endocrine disorder, the remaining tall children mostly receive a clinical diagnosis of “idiopathic” (ITS) or “familial” tall stature (FTS). The aetiology of their TS remains unknown.Aims: To elucidate genetic cau...

hrp0089rfc3.3 | Diabetes and Insulin 1 | ESPE2018

Significant Prevalence of Severe Monogenic Immune Defects Among Children with Type 1 Diabetes and Low T1D-Genetic Risk Score

Pruhova Stepanka , Strakova Veronika , Elblova Lenka , Johnson Matthew B , Dusatkova Petra , Obermannova Barbora , Petruzelkova Lenka , Kolouskova Stanislava , Snajderova Marta , Fronkova Eva , Svaton Michael , Lebl Jan , Hattersley Andrew T , Sumnik Zdenek

Introduction: Monogenic Type 1 diabetes (T1D) is a rare disease caused by pathogenic variant in a single gene leading to dysregulation of immune system. T1D is combined with other autoimmunity like immune cytopenias, inflammatory bowel disease, rheumatoid arthritis, atopic eczema, autoimmune thyroid disease etc in these patients. Pathogenic variants in the AIRE, FOXP3, LRBA, IL2RA, CTLA4, STAT3 and STAT1 genes have...