ESPE Abstracts

Introduction: Hypoglycemia is a common problem in neonatal period associated with adverse neurological outcome and brain injury if treatment was not provided. AAP and PES recommended screening for hypoglycemia only in newborns with risk factors but many others neonates may present episodes of asymptomatic hypoglycemia without any known risk factor.Objectives: To assess the incidence of hypoglycemia in healthy full term neonates without any risk factors i...

Background: Diabetes mellitus (DM) is a chronic metabolic disorder requiring daily care to prevent both acute and chronic complications. Healthcare providers are challenged to manage the transition of adolescents from paediatric to adult diabetes services. Until recent date, this change of the medical team was lived by teenagers as a tearing and a discontinuity of the medical care.Objective and hypotheses: While centres providing structured integrated pa...

Background: Carbohydrate counting is essential in diabetes management to match insulin doses to carbohydrate intake. Though recommendations concerning macronutritient composition exist (ISPAD Clinical Practice Consensus Guidelines 2022: Nutritional management in children and adolescents with diabetes), fat and protein intake is usually not calculated. Therefore, little is known if these recommendations are followed. Lower carbohydrate intake is reported to be ...

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...

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...

Background: Brain-lung-thyroid syndrome (BLTS, OMIM# 610978) is caused by mutations in the NK2 homeobox 2 (NKX2-1; TTF1) gene affecting the three NKX2-1 expressing organs brain, lung and thyroid. The syndrome is characterized by benign hereditary chorea (BHC), infant respiratory distress syndrome (IRDS) and congenital hypothyroidism (CH). However, the clinical spectrum and severity of symptoms vary widely. Regarding the increasing number of published mutations and het...

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...

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...

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-...

Background: Severe forms of 46,XY DSD with uncertain sex may have a family history (FH) in ~15–20% of cases. On the other side of the DSD spectrum, data regarding isolated hypospadias is sparse and a FH of genital malformation is thought to be less frequent.Objective and hypotheses: The aims of the study were i) to determine the frequency of genital abnormalities in families of isolated hypospadiac boys, ii) to determine whether there is a particula...