ESPE Abstracts

Background: Primary ovarian insufficiency (POI) affects 1% of women and is associated with significant medical consequences. In approximately 10% of cases, POI presents early with absent puberty or primary amenorrhoea. A genetic cause for POI can be found in up to 30% of women. Identified genes often relate to the complex biological processes occurring in fetal life which underpin normal ovary development and function in later adulthood.Objective: We aim...

Background: patients with childhood-onset craniopharyngioma (CO-CP) present long-term outcomes, including growth hormone (GH) deficiency and obesity. Currently, data on the effects of GH therapy (GHT) on the body mass index (BMI) in CP are inconclusive. Aims of the study were to evaluate BMI over time and its determinants in a large cohort of CO-CP patients treated with GH therapy (GHT).Methods: a multicenter retrospecti...

The ongoing European LIFE-MILCH project(www.lifemilch.eu), focuses on detecting Endocrine Disrupting Chemicals in mothers, in breast and formula milk and in urine of mothers and infants up to 12 months of age studying relationships with neurodevelopment, growth, distribution of adiposity, pubertal stages to establish a risk assessment model to prepare safety guidelines. In this study we have evaluated the effects of maternal diet during and after pregnancy, and of duration of ...

The ongoing European LIFE-MILCH project (www.lifemilch.eu), focuses on detecting Endocrine Disrupting Chemicals in mothers, in breast and formula milk and in urine of mothers and infants up to 12 months of age studying relationships with neurodevelopment, growth, distribution of adiposity, pubertal stages, and ano-genital distance (AGD) to establish a risk assessment model to prepare safety guidelines. In this study we evaluated the effects of maternal diet during and after pr...

A 8 years and 7 months old male presented with short stature related to his target height. No history of bones fractures. The patient was 120.7 cm (- 1.77 SDS). Physical exam demonstrated peculiar facies, relative macrocephaly, delayed tooth eruption and pectus carinatum. He referred during the clinical evaluation diffuse bone pain and weakness, mostly exacerbated by sport activity. A first diagnostic investigation had already been made showing low serum alkaline phosphatase a...

Introduction: The diagnosis of GHD requires the coexistence of anamnestic, auxological and laboratory data. The latter are burdened by the poor accuracy and adverse effects of the stimulation tests. A recent european audit (Horm Res Paediatr 2019;92(3): 150-156) on GH diagnostic reported as preferred tests in Italy Insulin tolerance test (ITT), glucagon, clonidine, arginine and Arg-GHRH. We conducted a survey to explore which of them are most used in It...

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...

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...