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 ...

hrp0089rfc2.2 | Bone, Growth Plate & Mineral Metabolism 1 | ESPE2018

S-25OHD is Associated with Hand Grip Strength and Myopathy at Five Years in Girls: An Odense Child Cohort Study

Al-Jwadi Rada Faris , Jespersen Eva , Dalgard Christine , Bilenberg Niels , Christesen Henrik Thybo

Context: Severe vitamin D deficiency may lead to myopathy in adults. Little is known about vitamin D and muscle strength in children.Objective: To test whether hand grip strength (HGS) in 5-year-old-children associates with serum 25-hydroxyvitamin D (s-25OHD) from pregnancy to 5 years.Methods: Observational study in the population-based Odense Child Cohort, Denmark. At 5 years, anthropometrics, body fat percentage by skin fold meas...

hrp0089rfc8.5 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2018

Latest Progress in Tissue Engineered Urethral Regeneration: From Rabbit to Dog, a Step from Human Clinical Trial for Surgical Treatment of VSD (Variation of Sex Development)

Pinnagoda Kalitha , Vythilingam Ganesh , Vardar Elif , Ballet Eva-Maria , Tambidorai CR , Frey Peter , Larsson Hans-Mattias

Introduction: Treatment of patients with VSD (Variation of Sex Development), in particular severe hypospadias, is associated with high rate of post-operative complications using current surgical procedures. This leads to a high rate of re-operation in an already emotionally complicated situation. We improved the tissue engineered acellular tubular collagen scaffolds that showed promising results in the rabbit model to implant it to a dog model. This FDA approved new version ac...

hrp0089p2-p168 | Fat, Metabolism and Obesity P2 | ESPE2018

Weight Loss Outcomes in Two-Year Multidisciplinary Lifestyle Intervention Program Involving Obese Children and their Parents

Krnic Nevena , Uoic Anita Spehar , Bogdanic Ana , Kubat Katja Dumic , Pavic Eva , Putarek Natasa Rojnic

Background: Increasing prevalence of obesity requires improvement in current therapeutic approaches. Multidisciplinary lifestyle intervention programs involving both children and their parents are showing promising results.Aim: To compare the efficacy of family-based multidisciplinary program with standard weight loss counseling program in obese children.Methods: The intervention group consisted of 119 obese children with BMI 85 kg...

hrp0089p2-p218 | GH & IGFs P2 | ESPE2018

The Rationale and Design of TransCon GH

Sprogoe Kennett , Beckert Michael , Mortensen Eva , Karpf David B , Leff Jonathan A

Background: The fundamental challenge of developing a long-acting growth hormone (LAGH) is to create a more convenient growth hormone (GH) dosing profile while retaining the excellent safety, efficacy, and tolerability of daily GH. With GH receptors on virtually all cells, replacement therapy should achieve the same tissue distribution and effects of daily (and endogenous) GH while maintaining levels of GH and resulting IGF1 within the physiologic range....

hrp0089p1-p173 | Growth & Syndromes P1 | ESPE2018

Clinical and Radiological Manifestations in a Large Swedish Family with a Pathogenic Heterozygous ACAN Variant

Gkourogianni Alexandra , Segerlund Emma , Hallgrimsdottir Sigrun , Nilsson Ola , Stattin Eva-Lena

Objectives: Heterozygous mutations in the aggrecan gene (ACAN) are associated with idiopathic short stature, with or without advanced bone age (BA), osteochondritis dissecans (OCD) and early onset of severe osteoarthritis (OA). Variable features also include midface hypoplasia, brachydactyly, short thumbs and intervertebral disc degenerative disease.Methods: We reviewed 173 radiographs in 22 individuals (8F:14M), (three shoulders, 10 hands, 10 w...

hrp0086rfc8.2 | Growth: Clinical | ESPE2016

Pharmacokinetic Modelling Predicts Native hGH Levels Following Administration of a Sustained-Release Prodrug, TransCon hGH, to Children with GHD

Sprogoe Kennett , Beckert Michael , Christoffersen Eva Dam , Gilfoyle David , Wegge Thomas

Background: TransCon Growth Hormone is a once-weekly sustained-release prodrug of recombinant human growth hormone (hGH, somatropin). Based on the inert TransCon prodrug technology unmodified hGH is released with a Cmax and AUC comparable to daily therapy. TransCon hGH leverages the known pharmacology of daily hGH and is being developed for the treatment of growth hormone deficiency (GHD).Objective and hypotheses: Both hGH levels and resulting IGF-I leve...

hrp0086p2-p954 | Thyroid P2 | ESPE2016

Hearing, Language and Communication Abilities in Children with Congenital Hypothyroidism

Cooper Hannah , Peters Catherine , Halliday Lorna , Bamiou Doris-Eva , Clark Christopher

Background: Thyroid hormones are essential in the regulation of foetal and post-natal neurodevelopment. Despite early diagnosis and treatment of congenital hypothyroidism (CH) difficulties with language, hearing, memory and motor function persist for some children. However, comprehensive data about hearing, language and communication function in children with CH are not widely available.Objective and hypotheses: To evaluate hearing, language and communic...

hrp0082p1-d3-81 | Diabetes (2) | ESPE2014

mHealth app for Young People with Diabetes Type 1 Transferring from Pediatric to Adult Care

Teilmann Grete , Boisen Kirsten , Hommel Eva , Olsen Birthe , Pedersen-Bjergaard Ulrik , Castensoe-Seidenfaden Pernille

Background: Managing diabetes requires self-care, knowledge and support – especially when moving from pediatric to adult care. Finding ways to empower young people in transition and transfer is therefore important.Objective: To develop, test and evaluate a mHealth app for young people with diabetes type 1 transferring from pediatric to adult care.Method: Development: We developed an app-prototype based on rapid prototyping and...

hrp0082p1-d2-253 | Thyroid (1) | ESPE2014

Maternal Hypothyroxinemia in Early Pregnancy is Associated with Poorer Arithmetic Performance in a School Test in Offspring at Age 5 Years

Noten Anna , Loomans Eva , Vrijkotte Tanja , van Trotsenburg Paul , van Eijsden Manon , Rotteveel Joost , Finken Martijn

Background: Subtle impairments in the thyroid function of pregnant women are associated with poorer scores on mental developmental scales in their children at age 2–3 years, and with reduced performance in a simple reaction time test at 5–6 years. However, associations with school performance estimates have never been studied.Objective and hypotheses: We aimed to assess the effect of normal variation in the maternal thyroid function during earl...