ESPE Abstracts

Hypophosphatasia (HPP), an inborn-error-of-metabolism, has broad-ranging severity caused by inactivating mutation(s) in the gene for tissue non-specific alkaline phosphatase (TNSALP). HPP in children features premature loss of deciduous teeth often with impaired skeletal mineralization, poor growth, static myopathy, and compromised physical function. To date there are no approved treatments for HPP. Perinatal and infantile forms have very high morbidity and mortality and the j...

Background: Impairment of the chromatin remodeling factors ATRX and DAXX and telomeres abnormality play a role in cancer biology, influencing the clinical outcomes. However, their roles in adrenal tumorigenesis require broader investigation.Aim: To evaluate ATRX and DAXX genotype and expression, telomere length, and the alternative lengthening of telomeres (ALT), as well as their clinical significance, in primary adrenoc...

Children diagnosed with adrenocortical tumors (ACT) have variable prognosis depending on disease presentation at diagnosis. Available therapeutic options render excellent outcome for a subset of patients, but limited improvement in the survival of those diagnosed with non-localized/advanced disease. ACT DNA methylation was recently demonstrated to be a robust and independent prognostic biomarker. Aiming to identify potential therapeutic targets for these children, we compared ...

Objective: To evaluate the pancreatic reserve and metabolic control in our patient diagnosed of type 1 diabetes over the last 20 years.Method: Retrospective cohort study of all patients <15 years, diagnosed in our community between 01/01/1995 and 31/12/2014. Variables: gender, age at diabetes debut, age at study, c-peptide after stimulation with glucagon at debut and 1 month after, HbA1c at debut, 1 month, 1 year, 2 years, 5 and 10 years of debut. Co...

Background: The benefits of levothyroxine (L-T4) therapy in subjects with mild SH (TSH between 5 and 10 mU/l with normal FT4 values) are controversial. Current recommendations in adults suggest to start on treatment selected groups of subjects with mild SH and evidence of atherosclerotic CV disease. Data in children are lacking.Objective and hypotheses: To investigate the effect of L-T4 treat...

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: 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,...

Background: 3-M syndrome is an autosomal recessive primordial growth disorder characterized by severe prenatal and postnatal growth retardation, normal mental development, unusual facial features and skeletal abnormalities. Mutations in the CUL7, OBSL1 and CCDC8 genes are responsible for this syndrome. In literature a modest response to GH treatment in 3M children is reported without a significant improvement in the final height, suggesting a picture...

Background: Differentiated thyroid cancer (DTC) in pediatric age might have peculiar course and prognosis.Objective and hypotheses: To compare clinical, biochemical and ultrasound (US) features at diagnosis, histological grading and outcome in two groups of children and young adults with DTC.Method: Clinical, biochemical and imaging characteristics of 63 patients with DTC, diagnosed between 1999 and 2014 in our hospital, were retro...

Background: Hyperinsulinemic androgen excess is the most common cause of hirsutism, acne, seborrhea and menstrual irregularity in adolescent girls. The ovarian androgen excess originates most often from an absolute or relative excess of fat (in adipose tissue and in organs such as the liver) and from the ensuing elevations in insulinaemia and gonadotropin secretion. There is no approved therapy for androgen excess in adolescent girls. The prime recommendation is to reduce body...