ESPE Abstracts

Background: Pseudohypoparathyroidism 1A, newly classified as inactivating PTH/PTHrP signaling disorder type 2 (iPPSD2), is defined by resistance to parathyroid hormone, short stature and early-onset obesity. Short stature is caused by skeletal dysplasia and additionally, in some cases, also by the coexistence of growth hormone deficiency, as other hormonal resistances might be present (e.g. thyroid-stimulating hormone, growth hormone releasing hormone (GHRH), ...

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/Aims: Short stature is a common reason for presentation to paediatric endocrinology clinics. Getting to a diagnosis of short stature is a multi-step, complex process of tests that only in a few cases save a diagnosis. As genetic plays a strong role in height, we sought to identify known and novel genetic causes of short stature.Methods: We recruited 18 children with severe short stature, we conducted whole exo...

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...

Background: Over the past several decades, the age of pubertal onset in girls has shifted downward worldwide. Exposure to endocrine disrupting chemicals (EDCs) during critical windows of development may play a role in this trend. Epidemiological and animal studies showed that exposure to phthalates and BPA could be associated with earlier puberty onset in girls.Objective: To investigate the association between the exposure to BPA, DEHP’s metabolites...

Background: Mutations in more than 20 genes are described to cause monogenic diabetes. Nevertheless, numerous families with diabetes of unknown ethology and suspected genetic defect have no molecular diagnosis. This not only impedes our understanding of disease mechanisms but also prevents from predicting the clinical course of the patients and applying the pathogenesis-oriented treatment.Objective: To identify novel gene(s), causing monogenic adolescent...

Background: Thyroid function in preterm infants is often altered for various reasons. LBW or VLBW newborns frequently present a particular form of congenital hypothyroidism (CH) characterized by low FT4 and delayed TSH elevation. The incidence of this disease is 1:250 for VLBW babies and 1:1589 for LBW newborns. In this condition, neonatal screening based solely on TSH can miss the diagnosis, therefore some screening programs have proposed to repeat the screening te...

Background: Pancreas aplasia (PA) and neonatal diabetes mellitus (NDM) syndrome is a rare disease that usually presents in the 1st months of life.Objective and hypotheses: We aimed to characterize molecular genetic defects in a cohort of six NDM/PA patients with up-to-date unknown pathogenesis with optimum genetic testing.Method: As part of our ESPE-RU-project ‘Understanding the molecular basis of diabetes mellitus associated ...

Background: epidemiological studies reported an increased incidence of central precocious puberty (CPP) during the last year compared to previous year. Confinement measures and consequent daily routine modifications applied to contain coronavirus infectious disease-19 (COVID-19) contagion have been proposed as a cause of this phenomenon. Our study aims in investigating changes in CPP rates in a tertiary paediatric endocrinology outpatient clinic of South Italy...