ESPE Abstracts

Objectives: Prader-Willi syndrome (PWS) is a complex multisystem disorder due to loss of expression of paternally derived genes in the PWS critical region on chromosome 15q11-q13. The majority of the cases are due to the deletion of this region (del15), while 20–30% are caused by a maternal uniparental disomy of chromosome 15 (UPD15). The clinical picture is characterized by neonatal hypotonia and feeding difficulties in early infancy, early development of hyperphagia wit...

Background: Numerous studies have shown that PWS patients demonstrate the preservation of insulin sensitivity despite severe obesity. Data about insulin secretion in PWS however, are still conflicting. Other reports showed that PWS subjects and simple obese controls had similar insulin levels and were both insulin resistant. These discrepancies could be due to the different clinical characteristics of the study groups, including age, weight excess levels and the presence/absen...

Background: Obesity is usually correlated with a higher prevalence of 25OH vitamin D (25OHD) deficiency. This might be due to either volumetric dilution of vitamin D in the large fat mass or its increased uptake by adipose tissue. To our knowledge, a systematic study on 25OHD levels in Prader-Willi syndrome (PWS), a genetic disorder associated with severe obesity, is not available.Objective and hypotheses: To analyze the 25OHD values in a population of p...

Background: A reduced GH response to different stimulation tests have been documented in both children and adults with Prader–Willi syndrome (PWS), independently from obesity. Previous reports suggested the hypothesis of an age dependent derangement of the hypothalamus–pituitary axis occurring in PWS subjects.Objective and hypotheses: In this longitudinal study we re-evaluated the GH responsiveness to a combined test after long-term GH therapy ...

Background: Adult subjects with Prader-Willi Syndrome (PWS) have low Bone Mineral Density (BMD) and are at risk of osteoporosis. Several observations suggest that peak bone mass is usually achieved by late adolescence, in the presence of adequate gonadal hormone concentrations. Consequently, the altered bone characteristics of PWS patients may be related to inadequate sex steroid levels during pubertal development.Aim: To investigate BMD in PWS females d...

Background: Prader Willi syndrome (PWS) results from the loss of paternally imprinted genes on chromosome 15q11–15 and is characterized by neonatal hypotonia, short stature, hypogonadism, aggressive food-seeking behavior, hyperphagia, and obesity with difficult in losing weight only with nutritional approach.Objective and hypotheses: We report our experience on sleeve gastrectomy in PWS and obese subjects during 12 months of follow-...

Background: Prader–Willi syndrome (PWS) has a relative hypoinsulinemia and a lower insulin resistance than non-PWS subjects. Mostly on the basis of such higher insulin sensitivity, PWS subjects have been hypothesized to be at lower risk of non-alcoholic fatty liver disease (NAFLD).Objective and hypotheses: In this cross-sectional study, we analyzed the presence and the severity of NAFLD in a group of PWS children compared to matched pairs.<p cla...

Background: A variable prevalence of scoliosis has been reported in Prader–Willi syndrome (PWS). Clinical detection can be challenging. The role of GH therapy (GHT) in the onset and progression of scoliosis remains controversial as does the modality of screening.Objective and hypotheses: To define the prevalence of scoliosis in our PWS patients and analyse the role of age, gender, genotype, BMI, and GHT on its onset and severity.<p class="abstex...

Background: Prader-Willi syndrome (PWS) is a rare genetic disorder characterized by hyperphagia and abnormal behaviours towards food for both of which no approved treatment is available. Elevated plasma acylated ghrelin (AG) documented at all ages in PWS suggest that the ghrelin system may contribute to the pathophysiology of hyperphagia. Administration of unacylated ghrelin and 8-amino acid analog AZP-531 prevents AG-induced food consumption in animals and improves glucose co...

Introduction: Previous reports support the hypothesis of an age dependent derangement of the hypothalamus–pituitary axis occurring in PWS subjects. In this context, transition years represent an important phase of growth process when somatic development reaches its completion. In the general population, GH deficiency (GHD) during the transition phase is associated with deterioration of body composition, metabolic alterations and reduced bone mineral density. PWS subjects ...