hrp0082p1-d3-18 | Adrenals & HP Axis (1) | ESPE2014

Zenhale Inhaled Corticosteroid Therapy: Useful Second Line Therapy for Asthma in Children but be Wary of Adrenal Suppression

Perry Rebecca , Schwarz Wendy , Stosky Karen , Dawrant Jonathan , Pacaud Daniele , Noseworthy Mary , Anselmo Mark

Background: Children with Asthma who do not respond to first-line therapy may need inhaled corticosteroid-long-acting beta agonist combination (ICS-LABA) therapy. Adrenal insufficiency (AI) due to adrenal suppression is a recognized but relatively uncommon side effect of ICS. An increase in suspected cases of AI associated with one particular ICS-LABA, mometasone-formoterol (Zenhale) was observed at a tertiary care Asthma clinic over a 6-month period.Obj...

hrp0097p1-320 | Growth and Syndromes | ESPE2023

Achondroplasia: a novel deep intronic variant of the FGFR3 gene, c.1075 + 95C>G, disrupts mRNA splicing

Hogeabri Dorna , Schwarz Stephanie , Oehl-Jaschkowitz Barbara , Gawai Monika , Zemlin Michael , Rohrer Tilman

Background: In the vast majority of cases, achondroplasia and hypochondroplasia are attributable to hotspot missense mutations in the FGFR3 gene. 96% of patients have a G(1138)A and 3% have a G(1138)C point mutation. We report on a family whose members have a deep intronic mutation that leads to a novel cryptic splicing variant of the FGFR3 gene, and via this pathway results in new pathogenicity manifesting as achondroplasia.Case...

hrp0082p2-d3-440 | Growth Hormone (2) | ESPE2014

Two-Year Data from a Long-Term, Phase IV Study of Omnitrope®, a Recombinant Human GH, in Short Children Born Small for Gestational Age

Schwarz Hans-Peter , Birkholz-Walerzak Dorota , Szalecki Mieczyslaw , Walczak Mieczyslaw , Galesanu Corina , Metreveli David , Khan-Boluki Jasmin , Schuck Ellen

Background: Children born small for gestational age (SGA) are predisposed to metabolic abnormalities. While the therapeutic benefit of recombinant human growth hormone (rhGH) therapy in improving height is widely recognised, it can affect carbohydrate metabolism, potentially inducing diabetes.Objective and hypotheses: This ongoing, prospective study aims to evaluate the long-term safety and efficacy of Omnitrope® (somatropin) in children ...

hrp0094p2-122 | Diabetes and insulin | ESPE2021

Parental insulin resistance is associated with unhealthy lifestyle behaviours independently of body mass index in children: The Feel4Diabetes study

Gonzalez-Gil Esther M. , Gimenez-Legarre Natalia , Cardon Greet , Mavrogianni Christina , Kivela Jemina , Iotova Violeta , Tankova Tsvetalina , Imre Rurik , Liatis Stavros , Makrilakis Konstantinos , Schwarz Peter , Timpel Patrick , Dupont Elisabeth , Couck Pedro , Manios Yannis , Moreno Luis ,

Introduction and aim: Parental health is associated with children’s health and lifestyles. Thus, the aim of the present study was to assess lifestyle behaviours of children from parents with insulin resistance (IR) and at risk of type 2 diabetes.Methods: 2117 European parents from six countries included in the Feel4Diabetes-study measured in 2015 and identified as being at risk for diabetes with the FINDRISC questio...

hrp0082p3-d1-927 | Puberty and Neuroendocrinology | ESPE2014

Basal LH Combined with the Tanner Stage of Breast Development can Predict the Gonadotropin Response Following GnRH Stimulation Test

Admoni Osnat , Schwartz Naama , Tenenbaum-Rakover Yardena

Background: The GnRH stimulation test is widely used in the evaluation of precocious puberty but it requires repeated blood sampling, time-consuming and uncomfortable for the patients.Objective and hypotheses: To identify which parameters can be used to predict pubertal response in GnRH stimulating test for the diagnosis of central precocious puberty (CPP) in girls.Method: Included in the study 123 girls aged 3–9 years that un...

hrp0086p2-p398 | Gonads & DSD P2 | ESPE2016

Nonclassic Congenital Adrenal Hyperplasia and Functional Ovarian Hyperandrogenism Diagnosed During the Transition Period: Differences in Clinical, Hormonal and Metabolic Aspects

Boquete Hugo , Azaretzky Miriam , Llano Miriam , Jose Iparraguirre Maria , Schwartz Nadia , Suarez Martha , Boquete Carla , Sobrado Patricia , Fideleff Hugo

Introduction: Hyperandrogenism is a common presenting complaint during the transition period; however, clinical, hormonal and metabolic parameters in these patients have not been yet adequately characterized.Objective: To evaluate the disease-related history, clinical presentation and biochemical parameters in patients diagnosed during this period with nonclassic congenital adrenal hyperplasia (NCCAH) due to 21α hydroxylase deficiency and patients w...

hrp0082p1-d1-109 | Fat Metabolism & Obesity | ESPE2014

Identification of Brown Adipocyte Progenitor Marker Genes in Progenitor Cells from Human Deep Neck and Subcutaneous Adipose Tissue by Gene Array Analysis

Tews Daniel , Schwar Verena , Weber Theresia , Scheithauer Marc , Fromme Tobias , Klingenspor Martin , Barth Thomas F , Moller Peter , Fischer-Posovszky Pamela , Wabitsch Martin

Background: Studies in animal models revealed that brown and white adipocytes derive from different progenitor cells. Molecular characteristics of these cells have not been investigated in detail in humans.Objective and hypotheses: To identify novel markers of human brown adipocyte progenitor cells.Method: Progenitor cells from human paired deep neck and subcutaneous adipose tissue samples were obtained from n=12 subjects ...

hrp0086p1-p477 | Fat Metabolism and Obesity P1 | ESPE2016

Renal Involvement ın Obese Children and Adolescents

Kaya Mehmet Sirin , Anık Ahmet , Unuvar Tolga , Sonmez Ferah

Background and aim: Epidemiologic studies have been shown that obesity increases the risk of renal disease and it impact on prognosis. In this study, we aimed to investigate both glomerular and tubular involvement in asymptomatic obese children and to investigate the association of metabolic-anthropometric parameters with renal parameters.Material-method: Children with BMI ≥95th percentile and diagnosed as primary obesity (n=43) were inclu...

hrp0082p2-d1-370 | Fat Metabolism & Obesity | ESPE2014

Childhood Obesity, Renal Injury, and Future Disease Risk

Lateva Mina , Bliznakova Dimitrichka , Galcheva Sonya , Neshkinska Maria , Mladenov Vilhelm , Boyadzhiev Veselin , Halvadzhiyan Irina , Yordanova Galina , Iotova Violeta

Background: Evidence associates obesity with glomerular hyperperfusion. Concurrent inflammation, hypertension, dyslipidemia, and insulin resistance represent further established risks to renal health in both children and adults.Objective and hypotheses: To investigate the relationship between childhood obesity and risk of renal impairment.Method: A total of 114 (38.6% boys) obese according to the IOTF reference but otherwise health...

hrp0084p2-277 | Diabetes | ESPE2015

Psychosocial Screening in Children with Type 1 Diabetes in Ireland

Hennessy Elena , Gallagher Patricia , Butler Triona , O'Toole Norma , O'Connell Susan M , O'Riordan Stephen M P

Background: Psychosocial factors may be fundamental explaining poor glycaemic control in children with type 1 diabetes (T1DM). Anxiety, depression are well described in children with T1DM. According to Kauffman (2012), diabetes management can only be successful if psychosocial needs are assessed and addressed.Objective and hypotheses: To examine the association between glycaemic control and scores on two screening tools measuring psychosocial risk and em...