ESPE Abstracts

Introduction: Cortisol homeostasis dysregulation has been associated to essential hypertension in adults. Higher levels of cortisol have been described in preterm-born individuals, who have also a higher risk of hypertension at younger ages. Several enzymes modulate peripheric cortisol metabolism. The 11b-hydroxysteroid dehydrogenase (11b-HSD) type 2 metabolizes cortisol into cortisone, preventing mineralocorticoid receptors’ activation by cortisol. The i...

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: Epigenetic alterations due to maternal obesity may contribute to an increased metabolic risk in the offspring. IRS1 has a critical role in insulin signalling and its methylation has been previously associated with body fat distribution and glucose metabolism in human adipose tissue. The relationship between IRS1 methylation in birth tissues and obesity parameters in the offspring is unknown.Objective: To iden...

Background: Obesity in females is often associated with metabolic complications and hyperandrogenism but the role of adipose tissue (AT) in androgen synthesis remains unclear.Aims/Objectives: Employing human subcutaneous and visceral AT and cultured adipocytes, we studied whether AT could be a source of androgens promoting hyperandrogenism in lean and especially in obese females.Methods</st...

Introduction: Hirsutism is a condition defined as excessive male-pattern hair growth in females most commonly caused by hyperandrogenism. Polycystic ovary syndrome (PCOS), non-classic adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency and androgen-secreting tumors represent causes of androgen excess. Common features such as hirsutism, polycystic ovaries, oligomenorrhea or amenorrhea, and insulin resistance make it hard to distinguish between the first...

Triple A syndrome (AAAS) is a rare, incurable, recessive disorder, characterised by achalasia, alacrima, adrenal failure and a neurodegenerative phenotype. The AAAS gene encodes ALADIN, is a nuclear pore complex (NPC) protein necessary for nuclear import of DNA protective molecules, important for redox homeostasis. ALADIN’s role is not fully characterised: its discovery at the centrosome and the endoplasmic reticulum suggests a role outside the NPC. To date, the ...

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 ...

Aim of the study: In type 1 diabetes, it is well recognized that collecting additional information about diet, physical activity, health status, stress and any patients’ everyday behavior, is crucial to evaluate accurately metabolic control and therapeutic prescription adherence. The aim of this study is to test AID-GM (Advanced Intelligent Distant – Glucose Monitoring) a web-based platform, able of collecting automatically patient generated health data (PHGD) coming...

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: Human placenta exhibits a specific miRNA expression pattern. Some of these miRNAs are dysregulated in pregnancy disorders like preeclampsia and intrauterine growth restriction (IUGR), and are potential biomarkers for these pathologies. No studies have been performed in maternal obesity.Objective and hypotheses: (1) Define the placental miRNA profile in pregnant women with: a) pre-pregnancy (preOB) or gestational obesity (gestOB), b) gestation...