hrp0084p2-395 | GH & IGF | ESPE2015

Growth and GH in Kabuki Syndrome

Schott Dina , Gerver Willem-Jan , Zimmermann Luc , Stumpel Constance

Background: Kabuki syndrome (KS; OMIM 147920) is a congenital anomaly/intellectual disability syndrome caused by a mutation in the KMT2D or KDM6A gene. Children with KS have a spectrum of clinical features, but one of the key features in KS patients is postnatal growth retardation. GH deficiency has been reported in some children with KS, but no structural research is done in this field.Objective and hypotheses: We studied the growth ho...

hrp0084p2-387 | Fat | ESPE2015

Biovascular Markers in Children with Kabuki Syndrome

Schott Dina , Kooger Berbel , Bierau Jorgen , Gerver Willem-Jan , Zimmermann Luc , Stumpel Constance

Background: Asymmetric dimethylarginine (ADMA) is an endogenous competitive inhibitor of endothelial nitric oxide synthase (NOS), which prevents synthesis of nitric oxide (NO). Low levels of NO are associated with endothelial dysfunction and an increased risk of cardiovascular disease. Diseases associated with high levels of ADMA include metabolic syndrome, chronic kidney disease, diabetes mellitus, insulin resistance, hyperthyroidism and multiple organ failure. Notable, GH tr...

hrp0084p1-152 | Miscelleaneous | ESPE2015

Noonan Syndrome-Causing SHP2 Mutants Inhibit Murine Growth Plate Chondrogenesis and Bone Development: Role of Ras/MAPK Hyperactivation

Yart Armelle , Tajan Mylene , Capilla Florence , Beton Nicolas , Davignon Jean-Luc , Tauber Maithe , Salles Jean-Pierre , Edouard Thomas

Background: Growth retardation affects more than 80% of patients with Noonan syndrome (NS; MIM#163950), one of the most common developmental disorders, but its origin remains poorly understood. We have demonstrated that mutations of the tyrosine phosphatase SHP2, that are responsible for half the cases of NS, impair the systemic production of Insulin-like growth factor 1 (IGF1), the biological mediator of GH acting on growth plate, through a hyperactivation of the Ras/Mitogen-...

hrp0094p2-459 | Thyroid | ESPE2021

Incidence and etiology of primary congenital hypothyroidism in Flanders

Ryckx Sofie , De Mey Lynn , Marcelis Lionel , Vanbesien Jesse , Gies Inge , Staels Willem , Regal Luc , De Schepper Jean

Background and aims. In several European countries, the incidence of primary congenital hypothyroidism (PCH) seems to increase in the last decade, especially in countries that have lowered the newborn screening TSH cutoff. In Flanders, two centers manage since 2012 the newborn screening for PCH and these maintained the same TSH assay (Delphia, Perkin Elmer) and cutoff (15 mU/l). We studied the current incidence and etiology of PCH and initiation of thyroxine treatment in Fland...

hrp0089rfc12.4 | Diabetes and Insulin 2 | ESPE2018

Use of Telemonitoring Via a Mobile Device App Reduces HbA1c in Type 1 Diabetic Children and Adolescents

Klee Philippe , Bussien Catherine , Castellsague Montserrat , Combescure Christophe , Dirlewanger Mirjam , Girardin Celine , Mando Jean-Luc , Perrenoud Luz , Salomon Carole , Schneider Franck , Schwitzgebel Valerie

Background and Aims: Type 1 diabetes mellitus (T1DM) belongs to the most common chronic diseases affecting children and adolescents. Technological advances have improved metabolic control over the past decades, thereby decreasing the risk of long-term complications. However, only a minority of patients meets the treatment goals of maintaining a glycated hemoglobin (HbA1c) level below 7.5% (58 mmol/mol). Webdia is an application for mobile devices developed by the fath...

hrp0089p1-p121 | Fat, Metabolism and Obesity P1 | ESPE2018

Promoting Healthy Lifestyles in Youth: Preliminary from the CIRCUIT Program

Ybarra Marina , Daniels Prince Kevin , Van Hulst Andraea , Barnett Tracie A , Mathieu Marie-Eve , Drouin Olivier , Kakinami Lisa , Bigras Jean-Luc , Henderson Melanie

Introduction: Childhood obesity is an international pandemic which affects 13% of Canadian youth, and is the leading cause of cardiovascular disease (CVD) in children. While the optimal approach to treat pediatric obesity remains elusive, comprehensive and intensive behavioral interventions which leverage the childÂ’s living environment in order to promote improvements in healthy lifestyles appear promising. The CIRCUIT program (Centre Pédiatrique dÂ’Intervent...

hrp0089p1-p122 | Fat, Metabolism and Obesity P1 | ESPE2018

Determinants of Attrition from a Healthy Lifestyle Intervention: Experience from the CIRCUIT Program

Daniels Prince Kevin , Ybarra Marina , Van Hulst Andrea , Barnett Tracie A , Mathieu Marie-Eve , Drouin Olivier , Kakinami Lisa , Bigras Jean-Luc , Henderson Melanie

Introduction: Pediatric obesity is a global public health problem that is associated with severe cardiometabolic consequences. Weight management interventions focusing on lifestyles have shown some promising results, but attrition rates are often high and reasons for dropout are poorly understood.Objectives: We aimed toestimate the prevalence, and identify the determinants of attrition among pediatric participants in the first year of a 2-year lifestyle ...

hrp0092p1-272 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Age at Menarche Over the Last Decades and Inter-Regional Variability in Northern Spain

Rubio Pablo Alonso , González Lucía Fernández , Saracho Cecilia Arbesú , Candás José Ignacio Pérez , Riaño-Galán Isolina

Introduction: Menarche is the time of first menstrual bleed and it occurs, on average, 2 to 2.5 years after the onset of puberty. Globally, the age of menarche had been reduced since the last century.Objective: To examine the evolution of the age of menarche over the last decades and inter-regional variability in an autonomous community located in northern Spain which is divided in eight health areas.<p class="abstex...

hrp0089fc3.2 | Diabetes and Insulin 1 | ESPE2018

Genome-Wide Meta-Analysis Identifies a Novel Low Frequency STK39 Variant of Large Effect on Risk of Type 1 Diabetes

Forgetta Vincenzo , Manousaki Despoina , Ross Stephanie , Tessier Marie-Catherine , Marchand Luc , Qu Hui-Qi , Bradfield Jonathan P , Grant Struan FA , Hakonarson Hakon , Paterson Andrew , Piccirillo Ciriaco , Polychronakos Constantin , Richards J Brent

Background: The genetic etiology of Type 1 Diabetes (T1D) is well recognized, with over 60 loci being identified to date, mainly through genome-wide association studies (GWAS). Most of these genetic associations involve common variants, while a sizable portion of the missing heritability of T1D could be attributed to unidentified rare single nucleotide polymorphisms (SNPs) (minor allele frequency (MAF) < 5%). The recent availability of large human whole genome sequencing d...

hrp0094fc4.1 | Diabetes | ESPE2021

Role of physical activity and sedentary behavior on early markers of cardiovascular disease in Canadian adolescents with and without type 1 diabetes: the CARDEA study

Harnois-Leblanc Soren , McNealis Vanessa , Friedrich Matthias G , Hulst AndraeaVan , Nuyt Anne-Monique , Bigras Jean-Luc , Barnett Tracie A. , Benedetti Andrea , Mathieu Marie-Eve , Drapeau Vicky , Sylvestre Marie-Pierre , Henderson Melanie ,

Background: Type 1 diabetes (T1D) is a risk factor for cardiovascular disease (CVD) and alterations may manifest as early as in adolescence. Increased physical activity and reduced sedentary behavior reduce the risk of CVD development in general adult populations, but knowledge is limited on their associations with early markers of CVD risk in pediatric T1D.Objective: Estimate associations of physical activity and sedent...