ESPE Abstracts

Background: Growth Hormone (GH) plays an important role in linear growth and in bone turnover during childhood. GH deficiency (GHD) may cause secondary osteoporosis associated to low bone mineral density (BMD), impairment of bone turnover and increased fracture rate. The effects of treatment with recombinant human Growth Hormone (rhGH) on bone metabolism are controversial. We aimed to assess BMD using dual energy x-ray absorptiometry (DEXA) among a cohort of children with GHD ...

Background: Childhood obesity is one of the most important causes of end-stage renal disease. The onset of obesity-associated renal disease is insidious and asymptomatic. To date available markers do not perfectly mimic kidney injury and may not characterize kidney changes especially in early stages and of renal tubulointerstitium. Tubular changes (KIM-1 and NGAL) are already apparent before the onset of proteinuria or alterations of GFR and thus might represent biomarker that...

Background: Childhood obesity is associated with non-alcoholic fatty liver disease (NAFLD). Previous studies in obese adult and pubertal children with NAFLD have shown that chronic inflammation/oxidative stress and insulin resistance might induce iron metabolism disorders, characterized by increased Hepcidin and Ferritin levels and decreased serum Iron levels. However, data evaluating these findings in a well selected population of obese prepubertal children are still missing....

Clinical history and symptoms: XX, 9.37 years, was referred to our Clinic for obesity and psycho-motor delay. Family history: Fibromyalgic mother, two maternal cousins with psycho-motor delay, paternal uncle with epilepsy and intellectual disability. Born at term from caesarean section for placental detachment after physiological pregnancy (birth weight g 1900, SGA). In the first years of life she had psychomotor retardation, episodes of affective spasms, nocturnal enuresis, a...

Introduction: Term newborns Small for Gestational Age (SGA) have an increased risk for minor neurological impairment at pre- and school age. The general movements (GMs) assessment, in particular at Fidgety (F+) age, has been increasingly used to predict neurological dysfunctions. Aim of our study was to evaluate, in a population of term newborn SGA (gestational age >37 weeks) the growth recovery, the presence of F+ at 3 months of age, and the neurological outcome at 2 year...

Background: Growth retardation is seen in about 30% of children with chronic renal failure (CRF). Under-nutrition, anaemia, secondary hyperparathyroidism, acidosis, corticosteroid therapy and abnormalities in the GH/insulin like growth factor system have been implicated. Recombinant GH (rGH) therapy is recommended in children showing failure to maintain a normal height velocity despite optimized primary treatments.Objective and hypotheses: It has been de...

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: The genetic causes of disorders of sex development (DSD) are difficult to identify since these conditions are refractory to classic genetic approaches. In particular the underlying genetic mutations of most cases of 46,XY DSD is unknown.Objective and hypotheses: Using an exome sequencing approach we aimed to identify new genetic factors involved in 46,XY gonadal dysgenesis.Method: Exon enrichment was performed using Agi...

Background: Tuberous sclerosis (TS) is a polymorphic, dominantly inherited syndrome caused by an inactivating mutation in tumor suppressor genes, TSC1 or TSC2; they regulate mammalian target of rapamycin (mTOR), a key player in control of cellular growth and protein synthesis. The disease involves benign tumors in several distinct organs (such as the skin, kidneys, heart, and CNS), that can interfere with organ function. Rarely TS is associated with endocrine abnormalities, an...

Background: Infants born small (SGA) and large (LGA) for gestational age have been identified at increased risk of perinatal morbidity and later cardio-metabolic alterations. Nevertheless, the progression over time in incidence of SGA and LGA births is yet to be determined.Objective and hypotheses: To investigate temporal trends in SGA and LGA infants compared to those born appropriate (AGA), and to identify factors potentially associated over a 20-year ...