ESPE Abstracts

Pancreatic β cells develop from endodermal pancreatic progenitors that first proliferate and next differentiate into functional insulin-producing cells. This developmental process is complex, each step being controlled by yet unknown signals. Theoretically, the development of a functional β cell mass can be enhanced by: i) activating the proliferation of pancreatic progenitors; ii) activating their differentiation into β cells; iii) activating the proliferation ...

Background: Short stature is a recognized complication of Crohn’s disease (CD) in children. Less is known on the impact of disease on final adult height and body proportions.Objective and hypotheses: To assess height and body proportions in 48 adults (F: 30; M: 18) with childhood (ACO) or adult (AAO) onset CD and 44 children (C) (F:22; M:22) with CD.Method: Standing, sitting height (SH) and leg length (SILL) were measured and ...

Objective: Obesity and its complications affecting many organ systems have been documented. Nevertheless, study conducted on the ophthalmological effects of obesity are scarce. The aim of the present study was to evaluate the changes in the ophthalmological parameters in obese children in comparison to their healthy counterparts.Material and methods: Study included 61 obese and 35 age-sex matched controls. Obesity was defined as body mass index- standard...

Background: However, no study has considered the effect of a supernumerary X chromosome on bone mineral status and bone metabolism.Objective and hypotheses: To evaluate bone mineral status and metabolism in a cohort of patients with nonmosaic triple X syndrome.Method: Nineteen girls (median age 10.9, range 7.7–15.9 years) with nonmosaic triple X syndrome were cross-sectionally studied and compared to an age- and body-size-matc...

Background: Newborn screening for congenital adrenal hyperplasia (CAH) is based on the determination of 17-hydroxyprogesterone (17OHP) on blood and its need is confirmed by the most recent guidelines on the subject. In Italy this screening is not mandatory, and its application is on a regional basis. Among its disadvantages, it is well known the high frequency of false-positives, in particular in premature babies and those born small for gestational age. Howev...

Background: Neonatal hypocalcemia is a common disorder, occurring more often in premature, low birth weight and asphyxiated infants, as in infants born to mothers with diabetes. Nevertheless its aetiology is heterogeneous ranging from iatrogenic, idiopathic and inherited metabolic abnormalities. Among these, Autosomal Dominant Hypocalcemia (ADH) is a rare syndrome characterized by the presence of inappropriately low concentration of circulating parathyroid hor...

Background: Polyuria and polydipsia syndrome (PPS) workup is not straightforward, especially in children. Basal investigations are often not reliable in distinguishing among diabetes insipidus (DI), central (CDI) or nephrogenic (NDI), and primary polydipsia (PP). Water deprivation test (WDT) is often essential, although uncomfortable and not always reliable enough to recognize partial DI. Plasma AVP investigation is not routinely used in the diagnostic pathway...

Introduction: Cryptorchidism has usually been managed using a surgical approach, with little attention to the underlying pathophysiology.Objectives: To assess gonadal function before treatment in prepubertal boys with cryptorchidism.Methods: In a cross-sectional study we reviewed all clinical charts of patients encoded with the diagnosis of cryptorchidism in the database of a paediatric tertiary hospital, between 2000 and 2017. Inc...

Background: Glucocorticoid (GC) treatment is associated with many unwanted effects but osteoporosis and fractures are the most serious adverse events. Several large case–control studies have shown strong associations between exposure to glucocorticoids and the risk of fractures. By other hand, multiple factors have been associated with avascular necrosis (AVN) in systemic lupus erythematosus (SLE), but it is steroid use that has been...

Background: Transcription activator-like effects nucleases (TALENs) have recently been developed as an efficient method for in vivo genome engineering. Zebrafish are becoming an increasingly popular model to study translational aspects in endocrinology. The redox cofactor ferredoxin (FDX1) is essential for mitochondrial cytochrome P450 (CYP) enzymes including those required for steroidogenesis. In vitro, FDX1 modifications influence the catalytic rate of ster...