ESPE Abstracts

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...

Pseudohypoparathyroidism (PHP) is a rare disease characterized by hormone resistance due to defect of the α subunit of the stimulatory G protein (Gsα). Hypocalcemia due to parathyroid hormone (PTH) resistance is common. PHP1a determined by maternal LoF mutations in GNAS, presents severe obesity as early feature with increased risk of developing metabolic derangement during life. The aim of the study was to evaluate the metabolic alteration in a population of...

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-...

Prader–Willi syndrome (PWS) is a rare genetic disorder resulting from lack of expression of the paternally derived chromosome 15q11–13, associated with several complications, including pubertal disorders, short stature, hyperphagia, obesity, glucose metabolism abnormalities, scoliosis, obstructive sleep apnea syndrome (OSAS) and behavioral problems. We report the case of a girl affected by PWS who presented at the age of 5.9 with premature pubarche, accelerated lin...

Background: Terminal or interstitial deletions of Xp (Xp22.2→Xpter) in males have been recognized as a cause of contiguous gene syndromes showing variable association of apparently unrelated clinical manifestations such as Leri-Weill dyschondrosteosis (SHOX), chondrodysplasia punctata (ARSE), mental retardation (NLGN4), ichthyosis (STS), Kallmann syndrome (KAL1), and ocular albinism (GPR143).Case reports: We report ...

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...