hrp0097p1-414 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Multidisciplinary approach in achondroplasia – real world experience after drug approval of vosoritide

Kunkel Philip , Al Halak Maesa , Bechthold-Dalla Pozza Susanne , Grasemann Corinna , Keller Alexandra , Muschol Nadine , Nader Sean , Palm Katja , Poetzsch Simone , Rohrer Tilman , Rutsch Frank , Schnabel Dirk , Voelkl Thomas , Vogt Bjoern , Wechsung Katja , Weigel Johannes , Woelfle Joachim , Pfaeffle Roland , Gausche Ruth , Beger Christoph , Mohnike Klaus

Background: Achondroplasia (Ach) is a rare growth disorder caused by a point mutation in the fibroblast growth factor receptor 3 gene that results in dysproportionate extreme short stature and can lead to a wide range of multisystemic complications throughout the individual's life with reduced quality of life. In the past, orthopaedic and neurosurgical therapies have been developed to partially improve mobility, reduce pain and prevent neurological disabi...

hrp0084p2-426 | GH & IGF | ESPE2015

The Acid-Labile Subunit Dose Matters? Response to Human GH Treatment in Patients with Acid-Labile Subunit Deficiency

Bechtold Susanne , Roeb Julia , Weissenbacher Claudia , Sydlik Carmen , Schmidt Heinrich

Background: In patients with acid-labile subunit (ALS) deficiency, the inability to build ternary complexes results in a marked reduction of circulating total IGF1. Height reduction by heterozygosity is about 1 SD in comparison to wild type. In homozygosity or compound heterozygosity a height loss of −2 to −2.5 SD occurs. This is suggestive of a gene-dose effect. How does treatment with human GH influence height development in relation...

hrp0095p1-512 | Growth and Syndromes | ESPE2022

Physical Activity: An Underestimated Factor in the Management of Arterial Hypertension in Women with Turner-Syndrome?

Sebastian Oberhoffer Felix , Bačová Martina , Li Pengzhu , Arnold Leonie , Alexander Haas Nikolaus , Dalla-Pozza Robert

Introduction: Turner syndrome (TS) is a rare X-chromosomal disease, which affects one in 2500-3000 female newborns. TS is associated with a distinct cardiovascular morbidity and mortality. Arterial hypertension is present in up to 50% of young TS women and closely related to the onset of aortic dilatation and dissection. The effective management of arterial hypertension can be considered as crucial to improve overall cardiovascular outcome of TS women. In the ...

hrp0084p2-453 | Growth | ESPE2015

Cross-Sectional and Longitudinal Follow-Up of Changes in Glucose Metabolism in Prepubertal GH-Treated SGA-Patients: Results of an Unicentric Study

Sydlik Carmen , Bechtold Susanne , Weissenbacher Claudia , Roeb Julia , Buckl Matthias , Putzker Stefanie , Schmidt Heinrich

Background: Several studies show impaired glucose tolerance at a certain number of years after start of growth hormone in SGA-children.Objective and hypotheses: To perform a longitudinal and cross-sectional evaluation of the oGTTs (glucose-insulin-pairs) in prepubertal GH-treated SGA-children and to evaluate if ISI and HOMA are effective surrogates for glucose tolerance and of prognostic value (0–1 year data).Method: In 81 pre...

hrp0095p1-82 | Fat, Metabolism and Obesity | ESPE2022

Cardiometabolic Health in Adolescents Conceived by Assisted Reproductive Technologies: Preliminary Results from the Munich heARTerY-Study

Langer Magdalena , Vilsmaier Theresa , Kramer Marie , Sciuk Franziska , Kolbinger Brenda , Jakob André , Rogenhofer Nina , Dalla-Pozza Robert , Alexander Haas Nikolaus , Sebastian Oberhoffer Felix

Background: Since its introduction in 1978, assisted reproductive technologies (ART) have been widely used to treat infertility. Worldwide, over 8 million children have been conceived by ART. Literature suggests that ART-adolescents potentially display altered vascular function. However, data concerning the cardiometabolic impact on the vascular function in ART-adolescents is limited. This study aimed to investigate the effects of blood lipids and HbA1c-levels...

hrp0092fc7.6 | Diabetes and Insulin Session 2 | ESPE2019

2017 American Academy of Pediatrics Clinical Practice Guideline: Impact on Prevalence of Arterial Hypertension in Children and Adolescents with Type 1 Diabetes mellitus

Dost Axel , Bechtold Susanne , Fink Katharina , Bonfig Walter , Wiemann Dagobert , Kapellen Thomas Michael , Witsch Michael , Schwab Karl Otfried , Holl Reinhard Walter

Background: In 2017 the American Academy of Pediatrics has introduced a new guideline (AAP 2017) to diagnose arterial hypertension in children, as the blood pressure thresholds for adults had been lowered before. There is a controversy about these new reference levels as other societies have not followed these recommendations. We studied the impact of the new AAP 2017 guideline on prevalence of arterial hypertension (HTN) in children with Type 1 diabetes melli...

hrp0086p2-p501 | Fat Metabolism and Obesity P2 | ESPE2016

Efficacy of the Treatment for Childhood Obesity in Specialist Care: Age Over 10 Years at Baseline and Acanthosis Nigricans Predict a Worse Outcome

Valle Marketta Dalla , Laatikainen Tiina , Nykanen Paivi , Jaaskelainen Jarmo

Background: Treatment of pediatric obesity is challenging and especially the long-term outcome has been modest in many previous studies.Objective and hypotheses: We wanted to evaluate the efficacy of obesity treatment in specialist care and to find out factors, which have a major impact on the outcome.Methods: A total of 654 children (302 girls) aged 2–18 years treated for obesity between 2005 and 2012 in three specialist clin...

hrp0089p3-p206 | GH & IGFs P3 | ESPE2018

Body Mass Index (BMI) in Patients with Growth Hormone Deficiency (GHD) at Diagnosis, One Year and Two Years After Treatment with Growth Hormone (GH)

Schmitt-Lobe Maria Claudia , Costa Debora Regina Andrade Dalla , Ueno Rafael Koji Yoshimatsu

Introduction: Growth velocity is reduced in patients with GH deficiency and this may result in an increase in Body Mass Index (BMI). Treatment performed with Growth Hormone (GH) while accelerating growth velocity, might reduce BMI. The objective of this study was to evaluate BMI in patients with GHD at diagnosis, 1 y and 2 y after started treatment with GH and to compare if there is difference between the BMI of the patients with and without pituitary abnormalities.<p clas...

hrp0082p2-d1-539 | Puberty and Neuroendocrinology | ESPE2014

Dramatic Rise in the Prevalence of Precocious Puberty in Girls Over the Past 20 Years in the South of France

Gaspari Laura , Morcrette Emilie , Jeandel Claire , Vale Fabienne Dalla , Paris Francoise , Sultan Charles

Background: Epidemiological evidence in Europe indicates the increasing prevalence of premature puberty, especially in girls. This may be attributed to in utero and early-life exposure to environmental estrogen-like compounds present in pesticides, plastics (bisphenol A, phtalates …) and beauty products.Objective and hypotheses: The aim of this study was to assess the prevalence of premature thelarche (PT) and central precocious puberty (C...

hrp0097p1-95 | GH and IGFs | ESPE2023

Clinical and laboratory characteristics in children with growth hormone deficiency (GHD) and short stature unresponsive to stimulation tests (SUS)

Dalla Bona Eva , Andrea Lanzetta Maria , Tamaro Gianluca , Faleschini Elena , Tornese Gianuca

Background: It has been previously proposed that not all children with short stature displaying an inadequate response to tests for growth hormone (GH) secretion truly suffer from GH deficiency (GHD). Instead, amongst these, solely children with an identifiable monogenic cause of GHD or an identifiable functional or anatomical anomaly in the hypothalamic-pituitary axis should be considered GHD. The remaining patients should be defined as affected by “sho...