hrp0086p1-p488 | Fat Metabolism and Obesity P1 | ESPE2016

Glucose Metabolism In Children with Prader-Willi Syndrome: The Effect Of Gh Therapy

Grugni Graziano , Fintini Danilo , Bocchini Sarah , Crino Antonino

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...

hrp0089p2-p167 | Fat, Metabolism and Obesity P2 | ESPE2018

Metabolic Alteration in Patients Affected by PseudoHypoParathyroidismo 1a (PHP1a): A Preliminary Data

Fintini Danilo , Ubertini Graziamaria , Scire Giuseppe , Covertino Alessio , Bocchini Sarah , Deodati Annalisa , Cappa Marco

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...

hrp0086rfc2.1 | Bone & Mineral Metabolism | ESPE2016

25-OH-Vitamin D Status in a Pediatric Population of Subjects Affected By Prader-Willi Syndrome Compared to Matched Obese Controls

Fintini Danilo , Pedicelli Stefania , Bocchini Sarah , Bizzarri Carla , Grugni Graziano , Cappa Marco , Crino Antonino

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...

hrp0082p2-d1-413 | Growth Hormone | ESPE2014

A Re-Evaluation of GH Secretion with Combined Test (GHRH+ARG/PD) in Children with Prader–Willi Syndrome

Fintini Danilo , Bocchini Sarah , Grugni Graziano , Brufani Claudia , Grossi Armando , Cappa Marco , Crino Antonino

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 ...

hrp0084p3-661 | Bone | ESPE2015

Bone Mineral Density in Prader-Willi Females During the Transition Phase

Grugni Graziano , Fintini Danilo , Mazzilli Giuliana , Bocchini Sarah , Sartorio Alessandro , Crino Antonino

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...

hrp0084p3-893 | Fat | ESPE2015

Experience with Sleeve Gastrectomy in Adolescent Obese Subjects and in Prader-Willi Syndrome

Fintini Danilo , Bocchini Sarah , Caccamo Romina , Grugni Graziano , Cappa Marco , De Peppo Francesco , Crino Antonino

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-...

hrp0082p2-d2-376 | Fat Metabolism & Obesity (1) | ESPE2014

Non-Alcoholic Fatty Liver Disease in Children/Adolescent Affected by Prader–WIlli Syndrome

Fintini Danilo , Inzaghi Elena , Bocchini Sarah , Grugni Graziano , Colajacomo Mauro , Brufani Claudia , Cappa Marco , Nobili Valerio , Cianfarani Stefano , Crino Antonino

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...

hrp0084p2-340 | Fat | ESPE2015

Prevalence of Scoliosis in a Large Cohort of Paediatric and Adolescent Prader–Willi Syndrome: A Scottish–Italian study

Ciccone Sara , Fintini Danilo , Kyriakou Andreas , Bocchini Sarah , Crostelli Marco , Read Heather , Donaldson Malcolm , Cappa Marco , Shaikh Guftar , Crino Antonino

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...

hrp0095p1-125 | Growth and Syndromes | ESPE2022

SHOX gene deletion as part of a contiguous gene syndrome at Xp22.31p22.33 deletions

Elisa Amodeo Maria , Deodati Annalisa , Mirra Giulia , D'aniello Francesco , Bocchini Sarah , Fintini Danilo , Grossi Armando , Cappa Marco , Ubertini Graziamaria

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 ...

hrp0082p2-d1-417 | Growth Hormone | ESPE2014

GH Stimulated Levels in Prader–Willi Syndrome During the Transition Period between Childhood and Adulthood

Grugni Graziano , Corrias Andrea , Di Candia Stefania , Fintini Danilo , Gargantini Luigi , Iughetti Lorenzo , Ragusa Letizia , Salvatoni Alessandro , Sartorio Alessandro , Bocchini Sarah , Delvecchio Maurizio , Chiumello Giuseppe , Crino Antonino

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 ...