hrp0082p1-d1-65 | Diabetes | ESPE2014

Glycaemic Control and Acute Complications in European Children, Adolescents, and Young Adults With Type 1 Diabetes in the Teens Study

Phillip Moshe , Laffel Lori , Domenger Catherine , Dain Marie-Paule , Pilorget Valerie , Candelas Christophe , Danne Thomas , Mazza Carmen , Anderson Barbara , Hanas Ragnar , Waldron Sheridan , Beck Roy , Mathieu Chantal

Aims: The TEENs study is an international, cross-sectional observational study aiming to assess type 1 diabetes (T1D) management and psychosocial parameters in children, adolescents, and young adults, to identify approaches to optimise glycaemic control and outcomes. Results from 11 European countries are presented.Methods: 111 centres providing diabetes care to young T1D patients collected data by participant interview, medical record review and partici...

hrp0086p2-p189 | Bone & Mineral Metabolism P2 | ESPE2016

About a Case of Dwarfism Idiopathic

Rouabah Nadira , Bioud Belkacem , Cormier-Daire Valerie

Background: The syndrome of Taybi-Linder (TALS) or paramount dwarfism microcephalic of type 1 (MOPD1) is an uncommon illness characterized by an intra-uterine delay of growth, multiple malformations (short members, facial dysmorphie) and especially of the cerebral abnormalities. The infants carrying this disease can live until the age from 2 to 3 years and, often at the time of an infection, their state worsens quickly in a few hours (conscience disorder, convulsions) until th...

hrp0089rfc3.2 | Diabetes and Insulin 1 | ESPE2018

Personalized and Predictive Medicine for Pediatric Diabetes Through a Genetic Test Using Next Generation Sequencing

Schwitzgebel Valerie , Klee Philippe , Dirlewanger Mirjam , Blouin Jean-Louis

Introduction: Monogenic diabetes (MD) accounts for at least 3% of all pediatric diabetes cases. MD is often misdiagnosed as type 1 or type 2 diabetes, because of its wide phenotypic spectrum. While clinical and biochemical parameters can suggest MD, a definitive diagnosis requires genetic analysis. We conducted a broad study to diagnose MD cases. Then, with the gained knowledge, we designed a new diagnostic to...

hrp0089rfc15.4 | Growth and syndromes | ESPE2018

Characteristics, Effectiveness and Safety Data from Clinically Relevant Subgroups of Patients with Severeprimary IGF-I Deficiency (SPIGFD): Results from the European Increlex® Growth Forum Database (EU-IGFD) Registry

Woelfle Joachim , Polak Michel , Perrot Valerie , Sert Caroline , Bang Peter

Background: The EU-IGFD registry was established to monitor the safety and effectiveness of recombinant human IGF-I (rhIGF-I) (mecasermin (rDNA origin) injection; Increlex®) for short stature in children with SPIGFD, including those with Laron syndrome (LS).Objective: To report patient characteristics, effectiveness and safety data in clinically relevant patient subgroups.Methods: Data were compiled from this ongoin...

hrp0089p1-p184 | Growth & Syndromes P1 | ESPE2018

Characteristics, Effectiveness and Safety Data for Patients with Growth Failure Treated with Recombinant IGF-I (rhIGF-I) and Achieving Adult or Near-adult Height (AH): Results from the European Increlex® Growth Forum Database (EU-IGFD) Registry

Polak Michel , Woelfle Joachim , Perrot Valerie , Sert Caroline , Bang Peter

Background: The EU-IGFD registry comprises data for children with severe primary IGF-I deficiency (SPIGFD) receiving rhIGF-I (mecasermin [rDNA origin] injection; Increlex®) for growth failure.Objective: To report patient characteristics, effectiveness and safety data for children receiving rhIGF-I for SPIGFD and achieving AH.Methods: Patients from this ongoing observational study (NCT00903110) were included in analy...

hrp0089p2-p337 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

A Case of Testotoxicosis Due to a Constitutive Mutation of the LH Receptor Initially Presented as a Central Precocious Puberty at 3 Years Old

Porquet-Bordes Valerie , Pienkowski Catherine , Roux Nicolas de

Background: A thirty-four months old boy was referred for precocious puberty. He was the first child of healthy non-consanguineous parents. His family history was unremarkable. He had no exposure to oestrogenic endocrine-disrupting chemicals. He had presented secondary sexual characteristics for five months: pubic hair, enlarged testicular volume to 6 ml (Tanner stage P2A1G2) and enlarged penile size. He had a deepening voice and aggressive behavior. He had a significant growt...

hrp0086rfc6.7 | Syndromes: Mechanisms and Management | ESPE2016

Characteristics of Responders and Poor-responders to Increlex® Therapy – Data from Children Enrolled in the European Increlex® Growth Forum Database (EU-IGFD)

Bang Peter , Polak Michel , Woelfle Joachim , Perrot Valerie , Sert Caroline

Background: The post-authorization registry, EU-IGFD, was initiated in Dec-2008 to collect data in children with growth failure receiving Increlex® (Mecasermin [rDNA Origin] Injection).Objective and hypotheses: To report patient characteristics, safety and effectiveness data in poor-responders (i.e. with change in year 1 Height SDS <0.3).Method: European, multicentre, open-label, observational study; eCRF data collection.<...

hrp0084p3-693 | Diabetes | ESPE2015

Blood vs Urine Ketone Monitoring in a Pediatric Cohort of Patients with Type 1 Diabetes: a Crossover Study

Goffinet Line , Barrea Thierry , Vandooren Valerie , Lysy Philippe

Background: Diabetes ketoacidosis (DKA) is the most severe complication in type 1 diabetes (T1D) but patient education and ketone monitoring may help decrease its frequency. However, the influence on glucose homeostasis of systematic ketone monitoring and of the nature of monitoring (urine vs blood) is unclear.Objective and hypotheses: To determine whether the use of blood ketone monitoring, as compared to urine ketone testing, decreases the duration of ...

hrp0092p3-33 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

In Case of Osteogenesis Imperfecta Transmission in Pregnancy: Check Vitamine D and Calcium Status of the Mother

Porquet-Bordes Valerie , Groussolles Marion , De Gauzy Jerome Sales , Edouard Thomas , Salles Jean Pierre

Background: A one-month-old girl was referred to our unit for osteogenesis imperfecta (OI). She was the first child of non consanguineous parents. The father had no history of fracture. The mother, 28 years-old, presented with a severe OI, short adult height (140 cm), moderate scoliosis. She had more than 20 limb fractures, no vertebral fracture and bowing limbs without need of surgery. She received Bisphosphonates during 3 years until 12 years of age. Then sh...

hrp0089p1-p182 | Growth &amp; Syndromes P1 | ESPE2018

Year-one Effectiveness and Overall Safety of NutropinAq® for Growth Hormone Deficiency (GHD) and Other Paediatric Growth Disorders: Completion of the International Cooperative Growth Study (iNCGS) European Registry

Coutant Regis , Munoz Jordi Bosch , Dumitrescu Cristina , Schnabel Dirk , Sert Caroline , Perrot Valerie , Dattani Mehul

Background: The iNCGS Registry monitored long-term safety and effectiveness of NutropinAq® (Somatropin injection) for paediatric growth disorders.Objective: To report year-1 effectiveness and safety data from the iNCGS registry (NCT00455728).Methods: Open-label, non-interventional, post-marketing surveillance study, in seven European countries from October 2005–December 2016. Measurements included height Standa...