ESPE Abstracts

Background: “Carney complex” is an autosomal dominant inheritance extremely rare genetic syndrome, usually determined by PRKAR1A (17q22-24) gene mutations. The clinical picture is characterized by speckled skin pigmentation; cardiac, cutaneous and mammary myxomas; schwannomas; endocrinopathies (acromegaly, Cushing syndrome due to primary pigmented nodular adrenocortical disease) and tumors of the endocrine glands.Case...

Background: Fetal growth is partly regulated by epigenetic factors, such as DNA methylation. Altered methylation status in placental genes relates to gestational diabetes, preeclampsia and prematurity. However, the epigenetic mechanisms underlying fetal growth restraint in uncomplicated pregnancies remain unknown.Objective and hypotheses: We aimed at identifying new candidate genes related to fetal growth, by assessing DNA methylation profiling in placen...

We report and discuss a case of a girl who at birth underwent surgery for Hirschsprung Disease (HD). To closely investigate her condition, we used a Next Generation Sequencing (NGS) panel to carry out a study of some of the genes known as being associated with congenital megacolon (PHOX-2B, RET, EDN3, GDNF, ASCL1 and BDNF). This analysis showed a maternally inherited heterozygous variant in the RET protooncogene (c.734T>A, p.Val245Glu), which is not described in the scienti...

Objective: Advanced glycation end products (AGEs) increased oxidative stress and promote inflammation, resulting in the cellular damage, by interacting with their receptor (RAGE) on cell membrane. By contrast, the soluble receptor for AGE (sRAGE), that is proteolytically cleaved from cell surface receptor via matrix metalloproteinases, sequester RAGE ligands and act as a cytoprotective and anti-inflammatory agent. AGEs-RAGE/sRAGE interaction is deemed to play a role in the pat...

Background: Klinefelter syndrome (KS) has long-term consequences on bone health. However, studies regarding bone status and metabolism in childhood and adolescence are very rare.Objective and hypotheses: The purpose of our study was to evaluate bone status and metabolism in a cohort of KS children and adolescents.Method: This cross-sectional study involves 40 (mean age 13.7±3.8 years) KS children and adolescents and 80 age-mat...

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: Children born small for gestational age (SGA) are at increased risk of coronary heart disease and type 2 diabetes in adulthood, due to reprogramming of endocrine and metabolic functions. Dysregulation of specific miRNAs in response to genetic and environmental factors contribute to aberrant gene expression patterns underlying metabolic dysfunction.Objective and hypotheses: We aimed to identify miRNAs associated with increased risk of obesity ...

Background: Childhood obesity is commonly associated with signs of endothelial dysfunction, characterized by impairment of insulin signaling and vascular NO availability. Recently both these features have been associated with endoplasmic reticulum (ER) stress, however the role of ER stress in the mechanism/s leading to vascular dysfunction in childhood obesity remains still to be established.Objective and Hypotheses: To evaluate ER stress and insulin-sti...

Background: Prolonged severe hypothyroidism due to Hashimoto’s thyroiditis (HT) is a rare cause of pituitary hyperplasia (PH) in children. Loss of thyroxine negative feedback causes a TRH-dependent hyperplasia of pituitary thyrotroph cells resulting in adenohypophysis enlargement. A transdifferentiation of pituitary somatotroph cells into thyrotroph cells could explain growth failure in those patients. We report a case series of patients with growth impairment diagnosed...

Background: ROHHAD/ROHHADNET syndrome (rapid-onset obesity with hypothalamic dysfunction, central hypoventilation, autonomic dysregulation with or without neural tumor - NET) – has been reported in association with cerebral venous thrombosis events, as reported also in central hypoventilation syndrome. It is not clear whether thrombotic risk represents a cause or a consequence of hypoventilation and hypothalamic dysfunction. Aim of our study was to chara...