hrp0084p1-142 | Turner & 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...

hrp0084p3-940 | GH & IGF | ESPE2015

GH Dosing Patterns in Children with Isolated GH Deficiency and Multiple Pituitary Hormone Deficiency Enrolled in the NordiNet® International Outcome Study

Snajderova Marta , Pournara Effie , Pedersen Birgitte Tonnes , Blankenstein Oliver

Background: Long-term monitoring of GH treatment in children is very important.Objective and hypotheses: To describe patterns of GH dosing in clinical practice in children with isolated GH deficiency (IGHD) and multiple pituitary hormone deficiency (MPHD).Method: We analysed 7 years of GH treatment data from NordiNet® International Outcome Study (IOS) (NCT00960128), an observational study evaluating the long-term effectiveness...

hrp0095p1-568 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Endocrine care for gender incongruent children and adolescents in The Czech Republic between 2011-2020

Neumann David , Snajderova Marta , Fifkova Hana , Weiss Petr , Zapletalova Jirina

Background: Gender incongruence (GI) is a topic of interest with major impacts on both the individual and society. In recent years, the small group of gender non-conforming children with an early GI history that persists through adolescence has been accompanied by a substantial rise in the proportion of adolescents reporting their gender doubts. The onset of gender dysphoria in this group is rapid. In the Czech Republic, multidisciplinary teams strive for high...

hrp0086p1-p895 | Thyroid P1 | ESPE2016

Thyroid Cancer is the Most Frequent Secondary Solid Tumour Following Allogeneic Stem Cell Transplantation in Childhood – A Single Centre Experience

Snajderova Marta , Keslova Petra , Sedlacek Petr , Formankova Renata , Riha Petr , Stary Jan

Backgroud: Allogeneic haematopoietic stem cell transplantation (HSCT) is a potentially curative therapy for a variety of malignant and non-malignant disorders. With improved outcomes, increasing attention has been drawn to late complications in long-term survivors. Secondary cancer belongs to the most serious complications.Objective: Occurrence of secondary solid tumours at HSCT Unit, University Hospital Prague- Motol was analysed....

hrp0082p1-d2-32 | Autoimmune Endocrine Disease | ESPE2014

Papillary Thyroid Cancer After Hematopoietic Stem Cell Transplantation in Young Age

Snajderova Marta , Keslova Petra , Sykorova Pavla , Sedlacek Petr , Formankova Renata , Stary Jan

Background: Increasing number of survivors following hematopoietic stem cell transplantation (HSCT) leads to necessity to focus also on careful monitoring for late effects. High dose chemotherapy and total body irradiation (TBI) is used for conditioning regimen in many patients. Thyreopathies belong to the most frequent among late endocrinopathies.Objective: Aim of the study was to evaluate incidence of secondary thyroid malignancies after HSCT in young ...

hrp0082p1-d1-203 | Reproduction | ESPE2014

Girls with Turner Syndrome have Normal Muscle Force but Decreased Muscle Power

Soucek Ondrej , Lebl Jan , Matyskova Jana , Snajderova Marta , Kolouskova Stanislava , Pruhova Stepanka , Hlavka Zdenek , Sumnik Zdenek

Background: Turner syndrome (TS) associates with decreased bone mineral density and altered bone geometry, a risk factors leading to increased fracture rate. Although hypogonadism or SHOX gene haploinsufficiency are the probable causes, the exact mechanism remains unclarified. Particularly, the muscle function as an important determinant of bone strength has yet not been widely studied in TS patients.Objective and hypotheses: We hypothesised there is mus...

hrp0084p3-972 | GH & IGF | ESPE2015

Time Trends in Baseline Characteristics (2006–2014) in Short Children with Growth Hormone Deficiency (GHD), Born Small for Gestational Age (SGA) and with Ullrich-Turner Syndrome (TS) Enrolled in Nordinet® International Outcomes Study (IOS) in Germany and Czech Republic

Dorr Helmuth Gunther , Bramswig Jurgen , Meckes-Ferber Stefanie , Pournara Effie , Pedersen Birgitte Tonnes , Snajderova Marta

Background: Early diagnosis of growth disorders and initiation of GH therapy at a younger age improves clinical outcomes.Aims and objectives: To analyse time trends in baseline parameters at GH treatment start (2006 – 2014) in short children with GHD, SGA and TS from Germany and Czech Republic enrolled in NordiNet® IOS (NCT00960128).Method: Baseline data (chronological age, height, weight, BMI, GH dose) from pa...

hrp0094p2-297 | Growth and syndromes (to include Turner syndrome) | ESPE2021

The efficacy and safety of recombinant biosimilar growth hormone treatment in children with GHD and SGA: a Czech retrospective national longitudinal study

Snajderova Marta , Zemkova Daniela , Sumnik Zdenek , Zapletalova Jirina , Pomahacova Renata , Pruhova Stepanka , Cermak Jakub , Sadovska Barbora ,

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 ...

hrp0092rfc6.6 | Bone, Growth Plate and Mineral Metabolism Session 2 | ESPE2019

Genetic Aetiology Predicts Growth Hormone (GH) Treatment Outcomes in Children Born Small-For-Gestational-Age with Persistent Short Stature (SGA-SS). Lessons from a Single-Centre Cohort

Lebl Jan , Toni Ledjona , Plachy Lukas , Kucerova Petra , Elblova Lenka , Sumnik Zdenek , Kolouskova Stanislava , Snajderova Marta , Obermannova Barbora , Pruhova Stepanka

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...

hrp0092rfc14.2 | Adrenals and HP Axis | ESPE2019

Deciphering Genetic Aetiology Among Children Born Small-For-Gestational-Age with Persistent Short Stature (SGA-SS): Phenotypic Characteristics at Diagnosis in a Large Single-Centre Cohort

Toni Ledjona , Plachy Lukas , Kucerova Petra , Elblova Lenka , Sumnik Zdenek , Kolouskova Stanislava , Snajderova Marta , Obermannova Barbora , Pruhova Stepanka , Lebl Jan

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...