hrp0084p2-221 | Bone | ESPE2015

Evidence of a Link Between Resting Energy Expenditure and Bone Remodelling, Glucose Homeostasis and Adipokine Variations in Adolescent Girls with Anorexia Nervosa

Maimoun Laurent , Guillaume Sebastien , Lefbvre Patrick , Philibert Pascal , Bertet Helena , Picot Marie-Christine , Gaspari Laura , Paris Francoise , Sennec Maude , Dupuys Anne-Marie , Courtet Philippe , Thomas Eric , Mariano-Goulart Denis , Bringer Jacques , Renard Eric , Sultan Charles

Purpose: Low areal bone mineral density (aBMD) is a well-known consequence of anorexia nervosa (AN). However, the impact of reduced energy expenditure on bone metabolism is unknown. This study assessed the effects of energy deficiency on bone remodelling and its potential interactions with glucose homeostasis and adipose tissue-derived hormones in AN, a clinical model for reduced energy expenditure.Methods: 50 women with AN and 50 age-matched controls (m...

hrp0089na2.2 | Cell engineering for treatment of diabetes | ESPE2018

Induction of Pancreatic Beta-Cell Neogenesis

Collombat Patrick

Background: The recent discovery that genetically-modified pancreatic alpha-cells can regenerate and convert into beta-like cells in vivo holds great promise for diabetes research. However, to eventually translate these findings to human, it is crucial to discover compounds with similar activities.Results: We recently identified GABA as an inducer of alpha-to-beta-like cell conversion in vivo. This conversion induces alpha-cell replacement mechanisms thr...

hrp0084wg5.4 | Paediatric and Adolescent Gynaecology | ESPE2015

Diagnosis and Management of Endometriosis in Adolescence

Puttemans Patrick

The presence of endometriosis, from minimal/mild disease up to the rASRM classification for endometriosis stages III and IV, has been described repeatedly in adolescent women. The complaints are common and elicit compassion, but rarely stimulate a thorough research of the cause. The clinical reality is that common complaints of dysmenorrhea or acyclic pelvic pain – even before the onset of menstruation – may hide a disease the severity of which is not reflected by th...

hrp0097s11.1 | Diet, nutrients and the environment | ESPE2023

Timing of eating and exercise to improve metabolic health in humans

Schrauwen Patrick

Recently our 24-hour culture has been identified as another lifestyle factor that can cause type 2 diabetes. Technological and societal advances such as electric lighting and digital screens – leading to light exposure that is too dim during the day and too bright during the evening –, shift work, time zone transfers, and round-the-clock food availability disrupt our intrinsic and evolutionarily preserved 24-hour rhythms resulting in a desynchronization between lig...

hrp0084p3-639 | Bone | ESPE2015

Is Serum Serotonin Involved in the Bone Loss of Young Females with Anorexia Nervosa?

Maimoun Laurent , Guillaume Sebastien , Lefebvre Patrick , Philibert Pascal , Bertet Helena , Picot Marie-Christine , Gaspari Laura , Paris Francoise , Mariano-Goulart Denis , Renard Eric , Sultan Charles

Objective: Recent experimental data suggest that circulating serotonin interacts with bone metabolism, although this is less clear in humans. This study investigated whether serum serotonin interferes with bone metabolism in young women with anorexia nervosa (AN), a clinical model of energy deprivation.Methods: Serum serotonin, markers of bone turnover (osteocalcin (OC), procollagen type 1 N-terminal propeptide (PINP), type 1-C telopeptide breakdown prod...

hrp0086p2-p508 | Fat Metabolism and Obesity P2 | ESPE2016

Effects of Highly Mineralized Water on Weight and Metabolism – A Randomized Controlled Blinded Trial in a Pediatric Hospital Staff

l'Allemand-Jander Dagmar , Miller Patrick , Laimbacher Josef

Background: The role of calcium in cardiovascular and metabolic risk is controversial.Objective and hypotheses: To examine the effect of highly mineralized natural water in lowering body weight, blood pressure, cholesterol and blood sugar and to assess health behaviour of the staff of a pediatric hospital.Method: Out of 650 pediatric hospital staff members, we examined 161 healthy subjects, aged 28–64 years, 77.5% women, two d...

hrp0092p1-412 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (2) | ESPE2019

WES Analysis of a Cohort of 94 Patients Presenting with 46,XY and 46,XX DSD

Sproll Patrick , Stevenson Brian , Nef Serge , Biason-Lauber Anna

Background: Disorders/Differences of Sex Development (DSD) is diagnosed in approximately one out of 4'500 newborns. Children born with DSD present with a very diverse phenotype and they and their families face considerable challenges, potentially including surgical intervention and gender assignment, as well as associated complications such as infertility and predisposition to gonadal tumors. Due to the lack of knowledge concerning the complete gene and pr...

hrp0086fc2.1 | Bone & Mineral Metabolism | ESPE2016

Characterization of GNAS miRNAs Targets: Trying to Better Understand the Pathophysiology of Pseudohypoparathyroidism 1B (PHP1B)

Hanna Patrick , Netchine Irene , Le Stunff Catherine , Linglart Agnes

Background: Patients affected with PHP1B are characterized by resistance to PTH which binds to the PTH receptor and activate the cAMP/Gsa signaling pathway. Gsa is encoded by GNAS, a locus subjected to genomic imprinting. PHP1B patients present with abnormal methylation at the maternal A/B promoter and, in some cases, at the other promoters (XLas, GNAS-AS1 and NESP55) of the GNAS locus, likely leading to a decreased express...

hrp0084fc6.4 | Gonads & DSD | ESPE2015

Severe 46,XY Disorder of Sex Development due to CBX2 Isoform 2 Mutation is Distinct from CBX2.1 Deficiency and is Likely due to EMX2 Dysregulation in the Human Developing Gonad

Eid Wassim , Costa Elaine , Sproll Patrick , Lauber-Biason Anna

Background: The process of sexual differentiation is central for reproduction of almost all metazoan. Recently, we identified CBX2.1 a chromatin architecture regulator, as an essential transactivator for human male gonadal development. CBX2 has a second isoform CBX2.2. Since nothing is known about the role of CBX2.2 in human sex development, we took advantage of the p.C132R mutation in CBX2.2 in a 46,XY disorder of sex development (DSD) patient with complete female phenotype a...

hrp0084p1-133 | Turner & Puberty | ESPE2015

Improved Determination of Total Serum Estrogenic Bioactivity: Characterisation of Oestrogenic Activity Modulators

Francoise Paris , Marina Grimaldi , Charles Sultan , Patrick Balaguer

Background: Several years ago, we developed a recombinant cell bioassay to determine serum estrogenic bioactivity (EBA). In addition to its physiological interest, EBA could be a good marker of endocrine-disrupting compounds (EDCs) with estrogenic activity and thus would be useful in the field of environmental-related endocrine diseases.Aims and objectives: To characterise the type of substances that mediate estrogenic activity.Met...