hrp0086p1-p359 | Gonads & DSD P1 | ESPE2016

Feasibility Study for Avoiding Early Surgery in Girls with 21-Hydroxylase Deficiency (21OHD)

Bougneres Pierre , Bouvattier Claire , Cartigny Maryse , Michala Lina

Background: Genital surgery in disorders of sex development (DSD) has been an area of debate over the past 20 years. One can question and even defy the routine practice to surgically align genitalia to the sex of rearing, as early as possible. However, despite multitude of data showing detrimental effects to genital sensation and sexuality, few patients born with ambiguous genitalia have remained unoperated into adolescence.Objective and hypotheses: To a...

hrp0086p1-p603 | Growth P1 | ESPE2016

Pediatric Phase 2 Data Demonstrate that TransCon hGH Has an Anti-hGH Immunogenic Profile that is Comparable to Daily hGH

Gilfoyle David , Pihl Susanne , Chatelain Pierre , Beckert Michael

Background: TransCon hGH, is a once-weekly prodrug releasing unmodified hGH, for the treatment of Growth Hormone Deficiency (GHD) in children and adults. To date, TransCon hGH has demonstrated comparable efficacy, safety and anti-hGH immunogenic profile to daily hGH, with no occurrence of neutralizing antibodies.Objective and hypotheses: Protein-based therapies may be associated with generation of drug-specific antibodies, which may impact efficacy, part...

hrp0086p1-p692 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Access to Medicines in Pediatric Endocrinology and Diabetes in Africa: Insights from the WHO and National Lists of Essential Medicines

Rowlands Amanda , Mukhwana Renson , Dipesalema Joel , Chanoine Jean-Pierre

Background: Access to essential medicines remains suboptimal in Africa. The World Health Organisation (WHO) maintains two non-binding essential medicine lists (EML) (for children and for adults). Individual countries refer to these lists to prepare national EMLs.Objective and hypotheses: To determine which medicines commonly used in pediatric endocrinology and diabetes are included in the WHO and national EMLs in the WHO African region. We hypothesize th...

hrp0082fc7.3 | Growth promoting therapies | ESPE2014

Gene Expression Networks Associated with Changes in Serum Markers of Metabolism and Growth in GH-Treated Children with GH Deficiency

Stevens Adam , De Leonibus Chiara , Chatelain Pierre , Clayton Peter

Introduction: Growth promoting effects of GH occur in parallel with its impact on insulin sensitivity and lipid metabolism; underlying biological networks that link these actions are not defined. Our objective was to identify gene expression (GE) networks linking growth with metabolic responses in GH-treated children with GHD.Methods/design: Pre-pubertal children with GH Deficiency GHD (n=125) were enrolled from the PREDICT short-term (NCT002561...

hrp0084p1-109 | Perinatal | ESPE2015

Continuous Subcutaneous Infusion of Recombinant LH and FSH During Early Infancy Promotes Testicular Descent in Congenital Hypogonadotropic Hypogonadism

Lambert Anne Sophie , Lucchini Philippe , Bouvattier Claire , Bougneres Pierre

Context: Cryptorchidism, a common consequence of HH, is treated with orchiopexy. We previously observed that continuous subcutaneous infusion of gonadotropins restored normal serum testosterone and inhibin B concentrations in two infants with hypogonadotropic hypogonadism (HH) and was associated with testicular descent in one.Objective: Test if subcutaneous gonadotropin infusion within the first year of life can allow testicular descent in eight boys wit...

hrp0084p2-407 | GH & IGF | ESPE2015

A Phase 2, 6-Month, Randomised, Active-Controlled, Safety and Efficacy Study of TransCon hGH Compared to Daily Human GH in Children with GH Deficiency

Chatelain Pierre , Malievsky Oleg , Radziuk Klaudziya , Senatorova Ganna , Beckert Michael

Background: TransCon human GH (hGH) is a long-acting prodrug of recombinant hGH that releases fully active unmodified hGH. TransCon hGH was shown in phase 1 studies in healthy volunteers and a phase 2 study in adults with hGH deficiency to: i) be safe and well tolerated, ii) provide dose-dependent hGH levels, with same peak level and exposure compared to daily GH, iii) be suitable for a once-weekly dosing regimen, and iv) induce an IGF1 response within the normal range. This o...

hrp0084p3-1134 | Puberty | ESPE2015

Paraphilic Compulsion Secondary to Dopamine Replacement Therapy and Successful Treatment with GnRH Analogues

Brewka Anna , Owen Tamsin , Lin Jean-Pierre , Ajzensztejn Michal

Background: Hypersexualized behaviour in the paediatric population is a rare phenomenon. The aetiology of paraphilia is not completely understood, but some studies suggest imbalance of the dopamine serotonin system. Paraphilia has also been described as a side-effect of treatment with monoaminooxidase inhibitors (MAOI) and dopamine agonists. Most of the currently used pharmacologic treatments of the paraphilias have serotonin and testosterone/dihydrotestosterone as their targe...

hrp0094p1-132 | Growth Hormone and IGFs A | ESPE2021

Use of growth hormone therapy in short patients born small for gestational age: data from real-life French clinical practice

Coutant Regis , Leheup Bruno , Nicolino Marc , Salles Jean-Pierre ,

Background: A national French registry was created to address the absence of data on final height and safety following long-term exposure to supraphysiological doses of growth hormone (GH) in children born small for gestational age (SGA).Methods: This observational, non-interventional study (NCT01578135) included GH-naïve and non-naïve SGA children treated with GH at 126 sites in France. The inclusion period wa...

hrp0086p1-p346 | Gonads & DSD P1 | ESPE2016

Using Public Databases, ‘Virtual Controls’ and Geolocalization to Search for Environmental Correlates of Hypospadias

Valleron Alain-Jacques , Esterle Laure , Mouriquand Pierre , Meurisse Sofia , Valtat Sophie , Urology Centers HYPOCRYPT Network , Bougneres Pierre

Background: Incidence of hypospadias varies considerably across countries, ranging from 4 to 43 cases per 10,000 births. Environmental factors might explain these differences. The classical approach is to use case-control studies to identify these factors. However, this approach suffers from the unavoidable arbitrariness of the definition of controls, and of recall bias.Objective and hypotheses: To identify environmental markers of the place of birth of ...

hrp0086p1-p900 | Thyroid P1 | ESPE2016

Meta-analysis of Children with Multiple Endocrine Neoplasia (MEN) Type 2A from 1995-2014: Impact of RET Mutation Screening on Age at Thyroidectomy and Frequency of Metastatic Disease

Burckhardt Marie-Anne , Zumsteg Urs , Szinnai Gabor

Background: Medullary thyroid cancer (MTC) in MEN 2A is caused by mutations in RET. Guidelines (2001/2009/2015) recommend prophylactic total thyroidectomy (TT) based on mutation specific risk levels (ATA 2015: high/moderate).Objective: The aim of this study was to analyse changes of age at TT, frequency of metastatic MTC (MMTC), and frequency of TT according to guidelines since introduction of RET testing in 1995....