ESPE Abstracts

Background: SHOX encodes a transcription factor implicated in skeletal development. Approximately 70% and ~2.5% of Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS) patients, respectively, have a defect in SHOX or its regulatory regions.Objective and hypotheses: i) To perform SHOX mutation screening in a cohort of 585 patients referred with a clinical suspicion of LWD or ISS. ii) To determine which is the <e...

Introduction and Aims: Autosomal dominant hypocalcemia or type V Bartter syndrome is characterized by hypocalcemia, low parathyroid hormone (PTH), and calciuria, which marks its prognosis due to the risk of nephrocalcinosis. It is caused by activating mutations in the calcium-sensing receptor (CASR) gene (3q21.1), which is expressed in the parathyroid and renal tubules, causing salt and potassium loss, due to the inhibition of the ROMK and NKCC2 channels. We s...

Background: The GnRH-agonists are the drugs of choice for therapy of idiopathic-CPP. To assess two different GnRH-agonist (Leuprolide acetate: LA vs Triptorelin depot: TD) treatment effects on anthropometric measurements.Patients and methods: 74 girls with ICPP (mean age 33.8±8 years) were enrolled the study. Complaints had been begun before 8 years old. 50 girls underwent GnRH stimulation test. 58 girls with ICPP were followed up 18 months. Childre...

La puberté précoce est définie comme le développement des caractéristiques sexuelles avant l'âge de 8 ans chez les filles et de 9,5 ans chez les garçons. L'objectif de notre étude était de calculer la prévalence de la puberté précoce en consultation spécialisée et de décrire le profil clinique, paraclinique, étiologique et de prise en charge ainsi que la qua...

Introduction: Formulations and doses of GnRH analogues used to treat idiopathic central precocious puberty (iCPP) may vary with clinician preference or local approvals. Aim of this study is to define factors that affect initial depot leuprolide acetate (LA) dose which suppress hypothalamo-pituitary-gonad (HPG) axis in girls with iCPP.Methods: A total of 220 girls receiving LA for iCPP were included. LA is started in the dose of 3.75 mg/28 days, and suppr...

Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in neonates, infants, and children, and is caused by genetic mutations in pancreatic beta-cells. Current therapies are burdensome, have limited efficacy, and are associated with significant morbidity. CRN04777 is a potent, orally-bioavailable, selective SST5 agonist that suppresses insulin secretion in the terminal steps of the insulin secretion pathway and could be useful for patients with con...

Background: The patatin like phospholipase containing domain 3 (PNPLA3) I148M polymorphism has an effect on modulation of estimated glomerular filtration rate (eGFR) in non-obese non-diabetic adults and in children with histologically confirmed Non-Alcoholic Fatty Liver Disease (NAFLD).Objectives: To explored the impact of PNPLA3 I148M polymorphism on eGFR in obese children with and without NAFLD.<p class="a...

Background: The increasing incidence of obesity is a serious global public health challenge. Endocrine disrupting chemicals (EDCs) are exogenous chemicals that interfere with the endocrine system, including adipose tissue. Increasing evidence from epidemiological, animal, and in vitro studies shows that EDCs, in particular bisphenol A (BPA) and phthalates (e.g. di-ethyl-hexyl-phthalate, DEHP), can affect body weight, adipogenesis and circulating lipid profile,...

Background: Over the past several decades, the age of pubertal onset in girls has shifted downward worldwide. Several factors including genetic predisposition, psychosocial and socio-economic conditions, diet and ethnicity may have contributed to this phenomenon. Epidemiological and animal studies have shown that the exposure to BPA and DEHP may be associated with early onset of puberty in girls.Objective: To investigate...

Background: The increasing incidence of obesity is a global public health challenge. Although energy imbalance is the major cause of obesity, evidence suggests that other risk factors such as exposure to endocrine-disrupting chemicals (EDCs) may contribute to the development of obesity. Early life exposure to obesogens may result in a higher risk of developing obesity. Among the chemicals suspected to have obesogenic effects, bisphenol A (BPA) and phthalates are under worldwid...