ESPE Abstracts

Introduction: Differences of sex development (DSD) encompass a variety of conditions with atypical development of chromosomal, gonadal or anatomic sex. 46, XX ovotesticular (OT) DSD is a rare condition, in which the presence of testicular and ovarian tissues is identified in the same individual. These patients present variable phenotypes with a wide spectrum of atypical genitalia and their sex assignment can be male or female. Short stature is a frequent issue...

Abstract: Congenital hyperinsulinism (CH) is the most frequent cause of persistent hypoglycemia in the newborn. Octreotide, a long-acting somatostatin analogue (SSA), is a second line treatment for diazoxide unresponsive CH patients. Although it has been found to be a safe and effective treatment, long-term benefits and side effects have not been thoroughly evaluated. Furthermore, some authors have emphasized that exocrine pancreatic insufficiency is a common ...

Background: Autoimmune diseases (AIDs) have familial aggregation and frequently share a common genetic background, but few studies have evaluated autoimmune clusters in children with AIDs and their families.Objective and hypotheses: To identify clusters of AIDs in children and their first-degree relatives.Method: A cross-sectional study was performed in subjects with an AID of pediatric onset (<18 years) recruited at Pediatric ...

Background: Hypothalamic obesity (HyOb) is a disease characterized by weight gain resistant to lifestyle changes and dietary restriction. The main clinical findings are hyperfagia and decline of satiety, high levels of insulin and an increase of adipogenesis. The major problem for these patients is that conventional treatments, either medical or surgical are not succesful and have variable results.Objective and hypotheses: We aim to describe the natural ...

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...

Introduction: Improvements in the treatment of acute lymphoblastic leukaemia (ALL) and non-Hodgkin lymphoma (NHL) have increased survival, with the consequent concern about the long-term effects that childhood chemotherapy may have on ovarian function. AMH constitutes an indirect, reliable biomarker of the ovarian reserve, useful for the assessment of cancer therapy-related ovarian damage.Aim: To evaluate small ovarian f...

Introduction: Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is a rare, autosomal disorder characterized by deficiency of cortisol and oftentimes aldosterone, elevated adrenocorticotropic hormone (ACTH), and excess androgen production. In a phase 2 study of adolescents with classic 21OHD, 14 days of treatment with the corticotropin-releasing factor type 1 receptor (CRF1) antagonist, crinecerfont, led to median percent red...

Introduction: Non-communicable diseases are recognized as a major cause of morbidity in low and middle-income countries (LMICs). There are 21 francophone countries (>100 million speak French) in Sub-Saharan Africa (FSSA). We identified only 19 pediatric endocrinologists in FSSA (37% in Cameroon and Senegal) mostly trained in France or through the successful anglophone “Paediatric Endocrine Training Centers for (West) Africa” (PETC[W]A) offered i...

Background: Preterm newborns (PN) are at risk of developing congenital hypothyroidism (CH) with a high reported incidence (1:300 vs 1:2000 for at term newborns). The study's objective was to determine the TSH percentiles at neonatal screening (NS) in PN and to analyze the incidence of permanent and transient CH in this population.Materials and Methods: PN born in the Piedmont Region of Italy in the period 2019-2021 ...

Background: Phthalates are ubiquitous environmental contaminants and endocrine-disrupting chemicals (EDCs). Nowadays, they are considered reproductive toxicants and in-utero exposure is well documented, although evidence of early life exposure is scarce, and needs to be described. Aim of this study is to assess phthalate exposure and its changes over the first months of life in a cohort of healthy full term infants and their mothers from a restricted area of t...