ESPE Abstracts

Insulinoma is a rare neuroendocrine tumor, usually benign, but can be life-threatening in causing hypoglycemic accidents. It presents in individuals aged between 8 and 82 years and can occur sporadically or constitute a part of multiple endocrine neoplasia type 1 (MEN-1).The nonspecific-symptoms and small size of these tumors led to difficulties of diagnosis and localization.Here we describe the case of a 11-year-old boy, who came to our attention for a ...

Turner syndrome (TS) patients are at risk for a constellation of neurocognitive and psychosocial diseases. TS is associated with an increased risk for difficulties with visual–spatial reasoning, visual–spatial memory, attention, executive functioning, motor, and math skills. Additionally, increased rates of social difficulties, anxiety, and depression are observed.Here we report the case of a 16-years-old Caucasian girl who came to our attentio...

Background: Low birth weight is associated with increased cardio-metabolic diseases in adulthood. Specific circulating miRNA seem to be predictive of cardio-metabolic risk.Objective: Our aim was to investigate the circulating levels of mir-122, mir-16, mir-126, and mir-486 in a cohort of SGA and AGA subjects, evaluated longitudinally in childhood and early adulthood.Method: Anthropometric and biochemical-metabolic evaluations were ...

Introduction: A low oxygen and/or nutrient supply to the fetus, resulting in intrauterine growth restriction (IUGR), can affect gonadal development of the offspring and have a potential impact on fertility. Epidemiological studies on subjects born small for gestational age (SGA), as a surrogate measure of IUGR, have reported contradictory results. Data derived from animal models of placental insufficiency are limited.Objective and hypotheses: To investig...

Background: The Wilms tumor suppressor gene 1 (WT1) is essential for kidney and gonadal development. WT1 gene mutations are associated with two syndromes called Denys-Drash (DDS) and Frasier (FS) that clinically overlap and differ in the type of mutation and in the age at nephropathy onset. In 46,XY subjects WT1 mutations are associated with steroid-resistant nephrotic syndrome (NS), Wilms tumor, disorder of sex development (DSD) with dysgenetic gonads and gonadoblastoma risk....

Background: Type 1 insulin-like growth factor receptor (IGF-1R) is the product of a single-copy gene located on chromosome 15 and is ubiquitously expressed in humans. Increased hepatic IGF-1R gene expression is found in hepatocellular carcinoma and in chronic hepatitis C, making parenchymal and non-parenchymal cells more susceptible to the mitogenic effects of IGF-1.Objective and hypotheses: As we have previously demonstrated that IGF-1 and IGF-2 circula...

Background: Endoplasmic reticulum (ER) is the site where proteins are folded in the cell. Metabolic stress alters ER homeostasis and activates the unfolded protein response (UPR), which contributes to the development of insulin resistance and metabolic syndrome.Objective and hypotheses: To longitudinally evaluate liver UPR and its functional consequences in an animal model of IUGR followed from birth to adulthood.Method: On day 19 ...

Background: Precocious puberty is defined as the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. This condition results from a constant and complex interplay between predisposing genes and environmental factors. To date, the molecular analysis are all focused on reproductive-endocrine disorders such as Kallmann syndrome and hypogonadotropic hypogonadism, while the genetic bases of pubertal timing are still unclear.<p ...

Background: Organic lesions in males with central precocious puberty (CPP) have been reported in 40% of cases. This high prevalence decreases (20–29%) when patients with previously diagnosed alterations of central nervous system (CNS) are excluded. Reported predictors of organic lesions are age at puberty onset, bone age, BMI, LH peak response and testosterone levels.Objective and hypotheses: To determine the prevalence and type of intracranial lesi...

Background: Isolated hyperreninemic hypoaldosteronism due to aldosterone synthase deficiency is a rare autosomal recessive disorder linked to aldosterone biosynthesis defect (involving CYP11B2 gene). Its clinical presentation varies with age: during the first weeks of life it usually presents with salt-wasting syndrome (with severe hyponatremia, hyperkalemia, metabolic acidosis, vomiting, signs of dehydration) while in children it is usually characterized by failure to thrive,...