hrp0086fc5.1 | Management of Disorders of Insulin Secretion | ESPE2016

The Anti-diabetic Drug, Metformin, Suppresses Adipogenesis through both AMP-activated Protein Kinase (AMPK)-dependent and AMPK-independent Mechanisms

Chen Suet Ching , Brooks Rebecca , Houskeeper Jessica , Bremner Shaun K , Dunlop Julia , Viollet Benoit , Salt Ian P , Ahmed S Faisal , Yarwood Stephen J

Background and aim: Metformin is widely used in Type 2 diabetes, with increasing reports of a potential bone protective role. We investigated the role of AMPK in mediating the effects of metformin on mesenchymal stem cell (MSC) differentiation to either osteoblasts or adipocytes.Methods: Confluent mouse MSCs (C3H10T1/2), wild type (WT) and AMPK knockout (KO) mouse embryo fibroblasts (MEFs) were treated with metformin(500 ╬╝M), AMPK-activator A769662(...

hrp0082wg7.1 | Nurses | ESPE2014

Quality of Life and Anxiety in Adolescents with Differentiated Thyroid Cancer

Benoit Melissa Anne

Background: Clinical observations of children and adolescents with differentiated thyroid cancer (DTC) patients led us to investigate quality of life and anxiety. Although adult DTC survivors have similar or slightly worse quality of life (QOL), this has not been evaluated in the pediatric population.Objective and Hypotheses: In this cross-sectional pilot study, our objective was to compare QOL and anxiety in adolescents with DTC to patients with acquire...

hrp0086p2-p529 | Fat Metabolism and Obesity P2 | ESPE2016

Insulin Resistance Correlates to Cognitive Fatigue Dimensions in Non-diabetic Obese Children

Barat Pascal , Meiffred Marie-Claire , Brossaud Julie , Corcuff Jean-Benoit , Thibault Helene , Capuron Lucile

Background: Alterations in endocrine functions and low-grade systemic inflammation represent fundamental characteristics of obesity. These biological systems have been repeatedly linked to fatigue symptoms.Objective and hypotheses: The aim of the study was to assess the relationship between fatigue symptoms and metabolic/inflammatory markers in a sample of non-diabetic obese children.Method: The study was conducted in 41 obese (med...

hrp0086rfc2.4 | Bone & Mineral Metabolism | ESPE2016

Results of Orthopaedic Surgery in Children with X-Linked Hypophosphatemic Rickets (XLHR)

Gizard Aliette , Rothenbuhler Anya , Pejin Zagorka , Finidori Georges , Glorion Christophe , de Billy Benoit , Linglart Agnes , Wicart Philippe

Background: XLHR is due to mutations in the PHEX gene leading to unregulated production of FGF23, hence hypophosphatemia and decreased renal 1,25OH-vitamin D hydroxylation. Amongst other features, XLHR is characterized by leg bowing of variable severity. Phosphate supplements and oral 1,25OH-vitamin D, partially or, in some cases, fully restore the limb straightness. For severe or residual limb deformities, orthopaedic surgery may be recommended.Objectiv...

hrp0086p1-p209 | Diabetes P1 | ESPE2016

Association between Hypothalamus–Pituitary Adrenal Axis Activity and Anxiety in Prepubertal Children with Type 1 Diabetes

Barat Pascal , Brossaud Julie , Bereron Aude , Corcuff Jean-Benoit , Moisan Marie-Pierre , Lacoste Aurelie , Vautier Vanessa , Savel Helene , Perez Paul

Background: Animal models of insulin-dependent diabetes show hyperactivity of hypothalamus┬ľpituitary adrenal (HPA) axis, independently of hypoglycaemia. Few data exists regarding type 1 diabetes (T1D) in children.Objective: To describe HPA axis activity according to the anxiety levels in prepubertal T1D children.Method: Prepubertal T1D children and siblings of T1D children (controls) were included. State-Trait Anxiety Inventor...

hrp0089rfc10.6 | Late Breaking | ESPE2018

Effect of the Current Treatment of X-Linked Hypophosphatemia During Growth on the Development of Osteoarticular Lesions in the Hyp Mouse Model

Cauliez Axelle , Faraji-Bellee Carole-Anne , Salmon Benjamin , Fogel Olivier , Benoit Aurelie , Schinke Thorsten , Miceli Corinne , Briot Karine , Linglart Agnes , Chaussain Catherine , Bardet Claire

Mineralization defects and paradoxical mineralizing enthesopathies are hallmarks of X-linked Hypophosphatemia (XLH), a rare skeletal disease caused by inactivating mutations in the PHEX gene (Phosphate-regulating endopeptidase homolog, X-linked). The current medical treatment, which consist in oral phosphorus supplementation and active vitamin D analogues, aimed at counteracting consequences of FGF23 excess and is commonly prescribed from early childhood to the end of...

hrp0082p1-d1-138 | Growth | ESPE2014

A Novel Homozygous Mutation of the IGF1 Receptor Gene (igf1r) in Two Siblings with Severe Short Stature, Intellectual Disability, Congenital Malformations, and Deafness

Maystadt Isabelle , Andrew Shayne F , De Schepper Jean , Wauters Nathalie , Mortier Geert , Benoit Valerie , Joset Pascal , Oneda Beatrice , Rosenfeld Ron G , Rauch Anita , Hwa Vivian

Background: Heterozygous mutations in the IGF1 receptor (IGF1R) are often associated with congenital IGF1 resistance, causing variable degrees of intrauterine growth retardation (IUGR) and postnatal short stature. To date, only one homozygous IGF1R mutation has been reported, in a child presenting with severe growth failure, mild intellectual impairment, microcephaly, dysmorphic features, and cardiac malformations.Objective: We now repo...

hrp0084p3-805 | DSD | ESPE2015

Patient with Primary Amenorrhea and Glomerular Nephropathy

Santini Sara , Phan-Hug Franziska , Xu Cheng , Lamine Faiza , Moser Nicolas , Surbone Anna , Mathevet Patrice , Lhermitte Benoit , Achtari Chahin , Pitteloud Nelly

Background: Primary amenorrhoea is a rare condition characterised by absent menarche. Based on gonadotropin levels, we distinguish hyper from hypogonadotropic hypogonadism forms.Objective and hypotheses: Herein, we present a case of primary amenorrhea with hypergonadotropic hypogonadism and glomerulopathy.Method: A 27-year-old female presented for evaluation of primary amenorrhea and incomplete pubertal development. Her past medica...

hrp0092p1-139 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Gonadal Function of Female Patients with Noonan Syndrome

Moniez Sophie , Capri Yline , Pienkowski Catherine , Lepage Benoit , Hamdi Safouane , Cartault Audrey , Oliver Isabelle , Jouret Béatrice , Diene Gwenaelle , Salles Jean-Pierre , Cavé Hélène , Verloes Alain , Tauber Maithé , Yart Armelle , Edouard Thomas

Background: Abnormalities in the hypothalamo-pituitary-gonadal axis have been reported in Noonan syndrome (NS) males but few data are available in female patients. Objective: The aim of this retrospective study was to evaluate the gonadal function of female patients with NS and to look for genotype-phenotype correlations. Patients and Methods: The study population included 19 girls/adolescents with a genetically confirmed diagnosis of NS and with available cli...

hrp0084p3-812 | Endocrine Oncology | ESPE2015

Uterine Bleeding: A Rare Side Effect of Mitotane Treatment for Recurrent Adrenal Carcinoma

Kuperman Hilton , Bendit Israel , de Camargo Maria Fernanda Carvalho , Blucher Decio

Introduction: Mitotane is an adrenal-specific agent available for treatment of residual adrenocortical carcinoma (ACC) after surgery, due to a specific, direct effect on adrenal cell mitochondria impairing adrenal steroidogenesis being associated with increased SHBG and modulates their disposal for target cell. We report a rare case of uterine bleeding during mitotane treatment in a girl with recurrent ACC.Case report: A 2.6 year-old girl was diagnosed w...