ESPE Abstracts

Background: Primary ovarian failure (POF) is a major cause of female infertility. POF is characterized by amenorrhea, hypo-estrogenism, and elevated gonadotrophin levels. In POF disorder, several genetic alterations have been described, however in most of the patients the etiology of this disorder remains unknown.Objective and hypotheses: To identify new genes implicated in the development of POF using whole-exome sequencing (WES)....

Objective: KIMS (Pfizer International Metabolic Survey) was a postmarketing surveillance study of growth hormone (GH) replacement in adults and adolescents with GH deficiency (GHD) that concluded in October 2012. This analysis aimed to evaluate the overall safety outcomes from the full cohort of GH-treated patients of KIMS.Methods: Data were collected on adults and adolescents with confirmed GHD and closed epiphyses trea...

Background: Aluetta® Smartdot™ (Merck Healthcare KGaA, Darmstadt, Germany) is first of its kind digitally connected smart injection pen device for recombinant-human growth hormone (r-hGH) administration. Aluetta® pen with Smartdot™ knob attachment integrated with Growzen™ digital ecosystem enables healthcare professionals (HCPs) to remotely monitor adherence and achieve optimal clinical outcomes for patients....

Introduction: GDM prevalence is increasing worldwide. The aim of the study was to identify potentially modifiable predictors of adverse neonatal outcomes in women with GDM.Methods: This prospective observational study included 576 singleton multiethnic women diagnosed with GDM after 13 weeks of gestational age, followed in the Diabetes and Pregnancy Unit of the CHUV between 4/2012 and 2/2017. Predictors included HbA1c at booking after GDM diagnosis and a...

Background: Early catch-up growth, between birth and age two years, in infants born small-for-gestational-age (SGA) is a risk factor for the development of cardiometabolic diseases in adulthood. The basis and mechanisms underpinning catch-up growth in SGA newborns are unknown.Objectives: We aimed to investigate the catch-up predictive ability of cord blood miRNAs in SGA infants.Methods: MicroRNA PCR Human Panels were used to study ...

Liquid chromatography associated with tandem mass spectrometry (LC-MS/MS) is currently considered the gold standard for steroid measurement. The aim of this study was to compare traditional immunoassay and LC-MS/MS methods for androgens measurement before and after human recombinant chorionic gonadotrophin (hrCG) stimulation in children with diagnosis of disorder of sex development (DSD) with 46,XY karyotype and past of normal testosterone secretion. We evaluated 19 patients, ...

Background: The placenta plays a key role in regulating fatty acid (FA) transport from maternal to fetal circulation. An unfavourable FA profile in the placenta, reflecting an inadequate nutritional status during pregnancy, may cause changes in placental DNA methylation and negatively affect fetal growth and metabolic health of the offspring.Objectives: We aimed to study the association of an unfavourable placental FA profile with placental DNA methylati...

Background: Maternal overweight/obesity during pregnancy and excessive gestational weight gain (GWtG) have been recognized as important early-life risk factors for childhood obesity. We aimed to examine whether maternal BMI at 20 weeks of gestation and excessive GWtG were associated with alterations in body composition and metabolism in childhood in the offspring of primiparous mothers who participated in a randomised controlled trial of exercise regimen during pregnancy.<...

Introduction: Physical activity (PA) is one of the treatments to promote weight loss in children with obesity. The WHO advices to perform moderate to vigorous (MV) PA during 60-min daily. It is necessary to measure the effect of increasing PA and the adherence to therapy.Aims: To evaluate PA using accelerometry at the onset and after 8 weeks of treatment with nutritional intervention and increase in PA.Patients, material and method...

Introduction: Published studies on pubertal growth of SGA patients on GH therapy are scarce. An earlier and shorter duration of puberty has been described. Treatment optimization may be necessary and also know their influence on adult height.Objetives: Analyse the evolution of height durig puberty in SGA patients treated with GH. Asses the age of onset of puberty and its relationship to adult and target height.Methods: Retrospectiv...