hrp0089fc5.2 | Thyroid | ESPE2018

Enrichment of Inherited Rare Variants in Non-Syndromic Congenital Hypothyroidism from Thyroid Dysgenesis Identified By Exome Sequencing: the Contribution of IKBKE to Vasculogenesis and Thyroid Development

Larrivee-Vanier Stephanie , Magne Fabien , Jean-Louis Martineau , Carre Aurore , Bui Helen , Samuels Mark E. , Polak Michel , Van Vliet Guy , Deladoey Johnny

Congenital hypothyroidism from thyroid dysgenesis (CHTD) is mainly a sporadic and non-syndromic condition occurring in 1:4,500 live births. In contrast to rare cases of syndromic monogenic CHTD, non-syndromic (NS) CHTD shows low familial recurrence risk (~2%) and low concordance rate between MZ twins, suggesting a two-hit scenario combining post-zygotic events with either a de novo monogenic mutation or incomplete penetrance of polygenic inherited variants,. As this l...

hrp0092p2-162 | GH and IGFs | ESPE2019

Metabolic Effects of Growth Hormone Treatment in Short Prepubertal Children: A Double-Blinded Randomized Clinical Trial

Tidblad Anders , Gustafsson Jan , Marcus Claude , Ritzén Martin , Ekström Klas

Objective: Growth hormone (GH) is a central hormone for regulating linear growth during childhood and also highly involved in metabolism of lipids, carbohydrates and protein. However, few studies report on how treatment with GH during childhood influences metabolic parameters. Our aim was to investigate metabolic effects of different doses of GH in short children with GH peak levels in the low normal range.Design: Thirty...

hrp0089p1-p131 | Fat, Metabolism and Obesity P1 | ESPE2018

The Importance of Universal Lipid Profile Screening in Two to Ten Years Old Lebanese Children

Nicolas Georges , Akiki Simon , Faddous Khalifeh Marie-Claude , Nawfal Georges , Bassil Naim , Matta Perla

Introduction: Dyslipidemia has been recognized as a risk factor for cardiovascular diseases. Studies showed that the development of atherosclerotic lesions begins in childhood and progresses throughout life. While the prevalence of dyslipidemia in adults has been reported to be 10 times higher in Lebanon, there is no available data on the prevalence of dyslipidemic children in Lebanon.Objectives: This study was conducted to check if a protocol for univer...

hrp0089p2-p195 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

The Benefit of Universal Neonatal Screening for Hypoglycemia

Nicolas Georges , chaaban Riham , faddous-Khalifeh Marie-Claude , Souaiby Juliana , Salemeh Yara

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...

hrp0086rfc9.6 | Pathophysiology of Disorders of Insulin Secretion | ESPE2016

Emerging Pitfalls of Etiological Diagnosis of Diabetes in Children and Adolescents? Analysis of a French Cohort of 310 Recent-Onset Cases

Bismuth Elise , Plat Helene , Chevenne Didier , Chantelot Christine Bellane , Carel Jean-Claude , Tubiana-Rufi Nadia

Background: A diagnosis of diabetes in children used to mean type 1 diabetes (T1D) and lifelong insulin therapy. However, over the last decades the spectrum of diabetes has widened and even if auto immunity remains the most prevalent etiology, confounding factors and overlap with other causes of diabetes types sometimes make a revision of the initial diagnosis necessary.Objective and hypotheses: To classify diabetes etiologies in youth with diabetes usin...

hrp0086p2-p67 | Adrenal P2 | ESPE2016

Successful Medical Management of Severe Neonatal Cushing Syndrome with Metyrapone, Guided by Mass Spectrometry Monitoring

Poidvin Amelie , Storey Caroline , Martinerie Laetitia , Braun Karine , Lahlou Najiba , Leger Juliane , Carel Jean-Claude

Background: Neonatal Cushing syndrome is a rare and severe condition, mostly associated with the McCune-Albright (MCA) syndrome. Management options include medical treatment (with ketoconazole or metyrapone resulting in 11-beta-hydroxylase blockade) and radical treatment with bilateral adrenalectomy. Spontaneous regression in late infancy has been reported.Objective and hypotheses: To report on the outcome of a 14 month-old girl with severe neonatal Cush...

hrp0086p1-p563 | Perinatal Endocrinology P1 | ESPE2016

Hyponatremia in Infants Under 100 Days Old: Frequently Overlooked and Multifactorial

Storey Caroline , Dauger Stephane , Baud Olivier , Deschenes Georges , Carel Jean-Claude , Martinerie Laetitia

Background: Hyponatremia is one of the most common electrolyte disorders in hospitalized children and early diagnosis and management are crucial to prevent morbidity and mortality. Because of the physiological resistance to aldosterone under 3 months of age, the mechanisms leading to hyponatremia are often misunderstood.Objective and hypotheses: To assess the prevalence of hyponatremia in hospitalized infants younger than 100 days and evaluate the mechan...

hrp0086p1-p724 | Pituitary and Neuroendocrinology P1 | ESPE2016

Estimating the Psychosocial Impact of Idiopathic Central Precocious Puberty (ICPP) in Girls Aged 6 to 8 Years: A Qualitative Study

Vasse Camille , Teixeira Maria , Paulsen Anne , Malivoir Sabine , Samara-Boustani Dinane , Carel Jean-Claude , Simon Dominique

Background: Emotional and behavioural problems are often used in support of GnRH agonists therapy in girls with early pubertal timing. However, there is little evidence to show that CPP leads to psychological distress and whether treatment is associated with improved psychological outcome.Objective and hypotheses: The objective of this qualitative study was to explore the psychosocial impact of ICPP in recently diagnosed girls.Meth...

hrp0086p1-p745 | Pituitary and Neuroendocrinology P1 | ESPE2016

Constitutional Delay of Puberty or Hypogonadotropic Hypogonadism: Diagnostic Value of Inhibin B and AMH Measurements

Istanbullu Sibel , Lahlou Najiba , Chevenne Didier , Leger Juliane , Carel Jean-Claude , Martinerie Laetitia

Background: Boys with delayed puberty represent one of the main cause for pediatric endocrine referrals. Although the majority of them have constitutional delay of growth and puberty (CDGP), it is important to identify isolated hypogonadotropic hypogonadism (IHH) for optimal management.Objective and hypotheses: The aim of the study was to evaluate the usefulness of inhibin B and AMH as biological markers for distinguishing between CDGP and IHH.<p cla...

hrp0086p1-p749 | Pituitary and Neuroendocrinology P1 | ESPE2016

Age of Onset of Puberty in Yaounde, Which Normative Reference Data?

Sap Suzanne , Komba Darelle , Sobngwi Eugene , Obama Marie Therese , Koki Paul Olivier , Mbanya Jean Claude

Background: The age of onset of puberty varies from country to another and, within every country, from one socioeconomic group to another. In Sub-Saharan Africa, particularly in Cameroon, there is paucity of data on this topic.Objective and hypotheses: To determine clinically meaningful normative reference data that describe the timing of sexual maturity indicators among Cameroonian children and to determine factors that influence the onset of this matur...