hrp0092p1-197 | Fat, Metabolism and Obesity (1) | ESPE2019

You are What You Eat: Preliminary Evidence of Associations Between Dietary Habits and Oral Microbiota Composition in Early Childhood

Henderson Mélanie , Nicolau Belinda , Van Hulst Andraea , Simoneau Gabrielle , Barnett Tracie A. , Drapeau Vicky , Tremblay Angelo , Mathieu Marie-Eve , Paradis Gilles , Zappitelli Michael , Varin Thibaut , Marette André

Background: Oral microbiota composition and diversity differ between obese and non-obese individuals. However, the associations between lifestyle habits (implicated in the pathogenesis of obesity) and the oral microbiota remain uncertain, particularly among children.Objective: To explore the associations between oral microbiota diversity and lifestyle habits among 8-10 year-old children.Met...

hrp0086rfc1.8 | Adrenals | ESPE2016

Adrenal Dysfunction in HIV-Exposed Uninfected Infants Receiving Ritonavir-Boosted Lopinavir, an HIV Protease Inhibitor, for the Prevention of Breastfeeding HIV Transmission. An ANRS 12174 Substudy

Polak Michel , Wudy Stefan , Meda Nicolas , Hartmann Michaela , Kankasa Chipepo , Tumwine James , Laborde Kathleen , Hofmeyr Justus , Vallo Roselyne , Nagot Nicolas , Tylleskar Thorkild , Van de Perre Philippe , Blanche Stephane

Background: We recently demonstrated that both ritonavir-boosted lopinavir (LPV/r) and lamivudine (3TC, a nucleoside analogue) given to breastfed infants can reduce the risk of post natal HIV transmission (ANRS 12174 trial; Nagot, Lancet 2016). In another setting we previously showed the occurrence of adrenal dysfunction in newborn perinatally exposed to LPV/r leading to acute adrenal insufficiency in premature babies (Simon, JAMA 2011).Objective and hyp...

hrp0092p2-251 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

3β-HSD2 Deficiency Due to Compound Heterozygosity of a Missense Mutation (p.Thr259Met) and a Frameshift Deletion (p.Lys273ArgFs*7) in an Under-Virilized Infant Male with Salt Wasting

Leka-Emiri Sofia , Taibi Ludmia , Fotinou Aspasia , Vlachopapadopoulou Elpis , Michalacos Stefanos , de Roux Nicolas

Objectives: To describe clinical, hormonal and genetic findings of an under-virilized infant male, 13 month old, of afghani origin, presented at the emergency department with salt-wasting adrenal crisis.Case report: The patient, a 13 month old male infant, presented at the emergency department with complaints of vomiting and fever. Physical examination was significant for severe dehydration along with perineal hypospadia...

hrp0089fc1.4 | Adrenals & HPA Axis | ESPE2018

Whole Exome Sequencing in Patients with Primary Generalized Glucocorticoid Resistance Identifies a Novel TRIM28 Gene Mutation (p.R230X)

Sertedaki Amalia , Marinakis Nikos , Nicolaides Nicolas C. , Crousos George , Charmandari Evangelia

Introduction: Primary Generalized Glucocorticoid Resistance or Chrousos syndrome (CS) is a rare sporadic or familial disorder characterized by generalized, partial tissue insensitivity to glucocorticoids. Mutations of the NR3C1 gene, which encodes the human glucocorticoid receptor, have been identified in many but not all patients with CS.Objective: To identify novel genes related to CS in patients without NR3C1 gene mutations.<p cl...

hrp0089fc13.4 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2018

The Kallman Syndrome Gene Product is Specifically Expressed in ACTH-Expressing Cells and Dysplays Sexual Dimorphism Expression in Human Fetal Pituitary

Guimiot Fabien , Bonnard Adeline , Soussi-Yaniscostas Nadia , Schnoll Carol , de Roux Nicolas

Kallman syndrome is defined by the association of anosmia due to an agenesis of the olfactory bulbs and hypogonadotropic hypogonadism due to a GnRH deficiency which is currently explained by a deficit of GnRH neuron migration from the olfactory placode toward the hypothalamus. In fact, the X-linked form of KS is due to loss of function mutations in ANOS1 which encodes an extracellular protein (ANOSMIN) interacting with cell membrane heparin sulfate proteoglycans but a...

hrp0089p3-p043 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Low Level of Vitamin D in Children Increases the Risk of Bone Fractures

Nicolas Georges , Hoyek Fady , Assaf Elias , Abi Fares Georges , Akiki Simon

Introduction: The physiological process by which vitamin D regulates calcium and phosphorus metabolism, the major mineral constituents of bone tissue, is by far very well understood. However, the clinical implementation of vitamin D deficiency on bone fragility in childhood remains controversial.Objective: The aim of this case-control study is to investigate the prevalence of vitamin D deficiency among Lebanese children who experienced a ‘low-energy...

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...

hrp0086fc12.1 | Neuroendocrinology | ESPE2016

Rabconnectin3-α is Indispensable for the Activation and Maturation of the GnRH Neuronal Network

Tata Brooke , Harbulot Carole , Csaba Zsolt , Jacquier Sandrine , de Roux Nicolas

Background: Acquisition and maintenance of fertility in mammals rely on the function of Gonadotropin Releasing Hormone (GnRH) neurons. During the juvenile period, GnRH neurons undergo morphological maturation, which involves changes in synaptic inputs and neuropeptide activation from afferent neurons. The functional importance of this maturation could be a pre-requisite for puberty onset. However, the mechanisms behind these dynamic changes have yet to be identified.<p cla...

hrp0086rfc1.1 | Adrenals | ESPE2016

Tracing the Glucocorticoid Receptor Evolutionary Pedigree: Insights from a Comprehensive Phylogenetic Analysis of the Full NR Super-Family

Vlachakis Dimitrios , Nicolaides Nicolas C. , Papageorgiou Louis , Lamprokostopoulou Agaristi , Charmandari Evangelia

Background: The nuclear receptor (NR) family comprises three main subfamilies: the steroid hormones receptors, the thyroid/retinoid hormone receptors and the orphan receptors. Proteins within the NR family share common domain architecture. These closely related receptors and their cognate ligand compounds play a key role in homeostasis, reproduction, growth and development. Despite their biological significance, their evolution and diversification remains to be elucidated....