ESPE Abstracts

Introduction: The leptin-melanocortin pathway plays a key-role in weight control. Pathogenic variants in the five major genes (LEP, LEPR, POMC, PCSK1, MC4R) are associated with early severe obesity. However, the specific associated phenotype with presence of mono-allelic variants and especially BMI trajectories are not well known.Objective: In order to identify specific profiles, we compared BMI trajectories during the f...

Background: French health authorities have developed a national program to organize outpatient care networks for the prevention and management of obesity in children and adolescents (Réseau de Prise en Charge de l’Obésité Pédiatrique (REPOP)). To date, REPOP Ile-de-France has more than 250 primary care physicians with dietitians, nurses, educators, and psychologists trained in the management of childhood obesity as part of a standard care pathway, work...

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...

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...

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...

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...

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...

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...

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...

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...