hrp0086p1-p104 | Bone & Mineral Metabolism P1 | ESPE2016

Clinically Significant Fracture Incidence in Czech Children: A Population-based Study

Soucek Ondrej , Lebl Jan , Sumnik Zdenek

Background: Before reaching adulthood, every second boy and every third girl will sustain a fracture. This growth spurt-related bone fragility is partially caused by a quick longitudinal growth and a relatively slower increase in bone width. However, no study has focused particularly on clinically significant fractures, a criterion for osteoporosis diagnostics.Objective and hypotheses: The aim of this study was to describe the incidence of clinically sig...

hrp0089p2-p240 | Growth & Syndromes P2 | ESPE2018

The Validation of an Automated Bone Age Assessment in Girls with Turner Syndrome – A Pilot Study

Soucek Ondrej , Lebl Jan , Maratova Klara , Zemkova Dana , Sumnik Zdenek

Background: Bone age evaluation is a basic tool to manage the treatment of girls with Turner syndrome (TS). The current standard of care is to involve an experienced medical staff to use the Tanner Whitehouse 3 (TW3) or Greulich-Pyle (GP) method for manual evaluation of the bone age. As this is time consuming and may be partially influenced by the evaluator’s skills, automated systems may prove more efficient.Objective and hypothesis: The aim of thi...

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...

hrp0082p2-d1-458 | Growth | ESPE2014

Two Duplications Within PAR1 in a Family With Idiopathic Short Stature

Obermannova Barbora , Drabova Jana , Dusatkova Petra , Lebl Jan

Background: Short stature homeobox-containing gene (SHOX) is located within the pseudoautosomal region 1 (PAR1) of the sex chromosomes. SHOX mutations and PAR1 deletions encompassing SHOX or its upstream/downstream enhancers have been identified in ~60% of Léri-Weill dyschondrosteosis (LWD) and ~5–15% of idiopathic short stature (ISS) patients. Recently SHOX duplications have been described in LWD/ISS individuals.Case presentation: The boy was ...

hrp0084p1-80 | Growth Hormone | ESPE2015

Good Clinical Response to the Growth Hormone Therapy in the Patient with Familiar Short Stature Caused by Novel p.Val478Serfs*14 Mutation in ACAN Gene and Isolated Growth Hormone Deficiency

Pruhova Stepanka , Dusatkova Lenka , Dusatkova Petra , Zemkova Dana , Lebl Jan

Background: Recently a heterozygote mutations in the gene ACAN coding the protein aggrecan has been described as a cause of familiar short starture combined with accelerated bone age. The aggrecan is an extracellular proteoglycan in cartilage of growth plates and plays an important role in biological and biomechanical properties of cartilage.Objective and hypotheses: To provide a genetic screening of ACAN within the families with familiar short stature a...

hrp0084p1-142 | Turner &amp; Puberty | ESPE2015

Fracture Incidence is Not Associated with the Six-Year Development of Trabecular BMD in Paediatric Turner Syndrome Patients

Soucek Ondrej , Sumnik Zdenek , Snajderova Marta , Kolouskova Stanislava , Lebl Jan

Background: Increased fracture risk and decreased bone mineral density (BMD) have been demonstrated by several studies in Turner syndrome (TS). However, longitudinal data on BMD development in childhood and adolescence and a reliable densitometric predictor of fractures in TS are still lacking.Objective and hypotheses: Our aim was to longitudinally assess BMD in paediatric TS patients and test whether trabecular BMD development over six years of observat...

hrp0092p1-317 | Diabetes and Insulin (2) | ESPE2019

Unexplained Neonatal Deaths Among Kurdish Consanguineous Families: Importance of Recognizing Congenital Hyperinsulinism and Testing for KATP Channel Gene Variants

Anne Amaratunga Shenali , Tayeb Tara Hussein , Rozenkova Klara , Kucerova Petra , Pruhova Stepanka , Lebl Jan

Context: Neonatal hypoglycemia due to congenital hyperinsulinism (CHI) is a potentially life-threatening condition. Severe forms of CHI, caused by autosomal recessive variants in KATP channel subunit genes (ABCC8, KCNJ11), are more prevalent in regions with high consanguinity. These regions also have a high neonatal mortality rate with many deaths remaining unexplained.Patients and Methods: We analyze...

hrp0092lb-27 | Late Breaking Posters | ESPE2019

Does Karyotyping and in situ Hybridization from Three Different Germ Layers Elucidate Low Bone Mineral Density in Turner Syndrome?

Soucek Ondrej , Lebl Jan , Zapletalova Jirina , Vrbicka Dita , Adamova Katerina , Prochazka Martin , Klaskova Eva

Background: Turner syndrome (TS) is caused by a total or partial loss of one X chromosome. Typical features include short stature and primary amenorrhoea. In addition, decreasing trabecular bone mineral density (BMD) and increasing cortical BMD during puberty has been reported at the radius. As chromosomal aberration remains a probable cause of bone changes in TS, we aimed to elucidate whether the karyotype differs among the tissues originating from the three ...

hrp0092p2-63 | Diabetes and Insulin | ESPE2019

A Rare Case of Syndromic Diabetes due to an INSR Pathogenic Variant

Tayeb Tara , Amaratunga Shenali , Kucerová Petra , Pruhová Štepanka , Lebl Jan

Introduction: The main type of diabetes seen in pediatric clinical practice is type 1 diabetes. Monogenic diabetes and syndromic diabetes are rare, but can be more common in areas where consanguinity is high.A 12-year-old girl born to consanguineous parents who are first cousins, was referred after being diagnosed with diabetes and severe diabetic ketoacidosis. In addition, she had hypertrichosis, coarse facial features, acanthosis nigri...

hrp0092p2-281 | Thyroid | ESPE2019

Differential Diagnosis of Euthyroid Hyperthyroxinemia

Globa Eugenia , Zelinska Nataliya , Hirschfeldova Katerina , Schevchenko Iryna , Lebl Jan , Hana Vaclav

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...