ESPE Abstracts

In Italy, treatment of children with CP is not centralized. We collected data of 117 patients (pts) (M/F 56/41) with CP diagnosed after 01/01/2000, followed-up in 14 centres of paediatric endocrinology belonging to the I.S.P.E.D. Five centres provided data on more than 10 pts (range 12-19), while the remaining on 1-9. 46 pts were diagnosed between 2000-2010 and 71 afterwards. Follow-up was 7.5±4.1 yrs.Results. Histology was adamanti...

Introduction: The ongoing LIFE-MILCH project (www.lifemilch.eu), focuses on detecting EDCs in mothers, in breast milk (BM) and in urine, and in infants from birth up to 12 months of age studying relationships with neurodevelopment, growth, distribution of adiposity, pubertal stages, and ano-genital distances, life-style sources (questionnaires) of exposure to establish a risk assessment model to prepare safety guide...

Introduction: The ongoing LIFE-MILCH project (www.lifemilch.eu) focuses on detecting EDCs in mothers, in BM and in urine, and in infants from birth up to 12 months of age studying relationships with neurodevelopment, growth, distribution of adiposity, pubertal stages, ano-genital distances, life-style and professional sources of exposure (questionnaires) to establish a risk assessment model to prepare safety guideli...

Beckwith Wiedemann syndrome (BWS) is a rare overgrowth disorder characterised by macroglossia, exomphalos, lateralised overgrowth, organomegaly, hyperinsulinism, and an increased risk of embryonic tumor during early life. In about 80% of BWS cases, molecular defects are identified at the imprinted 11p15.5 region which contains the IGF2 and the CDKN1C genes (most patients show methylation defects at either imprinting control region IC1 or IC2, or paternal unip...

Background: Data regarding epidemiology and management of Diabetic Ketoacidosis (DKA) in Italian children with T1D at disease onset are lacking.Method: From 1/1/2012 to 31/12/2013 a survey on DKA was conducted in all paediatric Centres belonging to the Italian Society for Pediatric Diabetology and Endocrinology. DKA was defined according to the ISPAD criteria. The following data were collected: treatment according ISPAD protocol yes or not, type of rehyd...

Background: Patients with isolated growth hormone deficiency (GHD) will routinely have an MRI scan of the pituitary and brain to assess pituitary size and presence of any intracranial lesions. The result may change the threshold for monitoring for further hormone deficiencies. However the test may also detect unexpected or unrelated abnormalitiesAim: To review the incidence of normal and abnormal MRI scans in children with a diagnosis of isolated GHD.</p...

Background: We report the first case of Wolfram syndrome with heterozygous polymorphisms of WFS1 and PTF1A genes.Case description: 16 years-old girl presented with diabetes mellitus at 12 years of age with HbA1c of 8.4 %. The IA-2, Islet cell, Insulin antibodies (Ab) were negative. GAD Ab were positive 26 U/ml (nl< 4). C-peptide level was normal 1.33 ng/ml (1.1-4.4 ng/ml) even after 4 years of diagnosis. She was initi...

Introduction: Diagnosis of growth hormone deficiency (GHD) and idiopathic short stature (ISS) is not straightforward. Nowadays growth hormone (GH) stimulation tests play a key role in the diagnosis but they are controversial due to the lack of normative data, poor reproducibility and poor disease concordance.The magnetic resonance imaging (MRI) is also a tool in the study of patients with short stature. Structural alterations of the hypo...

Introduction: Fanconi anemia (FA) is a genomic instability syndrome associated with congenital abnormalities. Structural anomalies of the central nervous system (CNS), particularly a small pituitary gland, have been published in a few case series. This has been thought to be the cause of the short stature (SS) observed in FA.Methods: A cross-sectional exploratory study was carried out in pediatric patients at the FA Span...

X-linked hypophosphatemia (XLH) is diagnosed in children with clinical and or radiological signs of rickets, impaired growth velocity, low serum phosphate levels associated with renal phosphate wasting, in the absence of vitamin D or calcium deficiency. Conventional treatment is made of phosphate and active vitamin D. However, nephrocalcinosis has been identified as a complication of this therapy. Its prevalence is about 25-40% in adult XLH treated patients. It was never c...