D Fintini1, G Grugni2, S Bocchini3, C Brufani3, S Di Candia4, A Corrias5, M Delvecchio6, A Salvatoni7, L Ragusa8, N Greggio9, A Franzese10, E Scarano11, G Trifirò12, L Mazzanti11, G Chiumello4, M Cappa13, A Crinò14. 1. Autoimmune Endocrine Diseases Unit, Bambino Gesù Children's Hospital, Research Institute, Rome, Italy. Electronic address: dfintini@hotmail.com. 2. Division of Auxology, Italian Auxological Institute, Research Institute, Piancavallo, Verbania, Italy. 3. Autoimmune Endocrine Diseases Unit, Bambino Gesù Children's Hospital, Research Institute, Rome, Italy. 4. Pediatric Department, S. Raffaele Hospital, Milan, Italy. 5. Pediatric Endocrinology, Regina Margherita Hospital, Turin, Italy. 6. Department of Pediatric Science and Surgery, Pediatric Hospital Giovanni XXIII, Bari, Italy. 7. Pediatric Unit, Insubria University, Varese, Italy. 8. Pediatric Unit, Oasi Maria SS, Research Institute, Troina, Enna, Italy. 9. Pediatric Department, University of Padua, Italy. 10. Department of Translational Sciences, University Federico II, Naples, Italy. 11. Pediatric Endocrinology and Rare Diseases Unit, University of Bologna, Italy. 12. Pediatric Unit, Salvini Hospital, Rho, Milan, Italy. 13. Endocrinology and Diabetology Unit, Bambino Gesù Children's Hospital, Research Institute, Rome, Italy. 14. Autoimmune Endocrine Diseases Unit, Bambino Gesù Children's Hospital, Research Institute, Rome, Italy. Electronic address: antonino.crino@opbg.net.
Abstract
BACKGROUND AND AIMS: Prader-Willi syndrome (PWS) is characterized by a high incidence of altered glucose metabolism (AGM). However, epidemiological data on impaired fasting glucose (IFG), impaired glucose tolerance (IGT) and type 2 diabetes mellitus (T2DM) are still discordant. METHODS AND RESULTS: We performed a multicenter study based on 274 PWS patients [144 females, aged 20.3 ± 10.4 yrs (range: 8.1-50.1 years)] evaluating the prevalence for AGM in the entire group, and according to age (children <10 yrs; adolescents 10-18 yrs, and adults >18 yrs), Body Mass Index (BMI = kg/m(2)), gender, genotypes (deletion or uniparental disomy for chromosome 15), and GH therapy (GHT) (untreated, previously or currently treated). Altogether, AGM was detected in 67 (24.4%) of patients (0.7% IFG, 10.2% IGT, 13.5% T2DM). The prevalence of AGM was correlated to age (p = 0.001), BMI (p = 0.001) and HOMA-IR (p = 0.001). However, gender, genotype, and GHT did not influence AGM development in univariate analysis. These data were confirmed as positive predictors when inserted in a multivariate analysis model. CONCLUSION: This study is the first report on the prevalence of AGM in a large population of PWS. Overall, PWS subjects show a high prevalence of AGM that appears more common in obese and adult subjects. Our data confirm the main role of obesity on the individual metabolic risk clustering in PWS, and thus reinforce the concept that improvement in weight control remains the most important goal of any PWS treatment program.
BACKGROUND AND AIMS: Prader-Willi syndrome (PWS) is characterized by a high incidence of altered glucose metabolism (AGM). However, epidemiological data on impaired fasting glucose (IFG), impaired glucose tolerance (IGT) and type 2 diabetes mellitus (T2DM) are still discordant. METHODS AND RESULTS: We performed a multicenter study based on 274 PWSpatients [144 females, aged 20.3 ± 10.4 yrs (range: 8.1-50.1 years)] evaluating the prevalence for AGM in the entire group, and according to age (children <10 yrs; adolescents 10-18 yrs, and adults >18 yrs), Body Mass Index (BMI = kg/m(2)), gender, genotypes (deletion or uniparental disomy for chromosome 15), and GH therapy (GHT) (untreated, previously or currently treated). Altogether, AGM was detected in 67 (24.4%) of patients (0.7% IFG, 10.2% IGT, 13.5% T2DM). The prevalence of AGM was correlated to age (p = 0.001), BMI (p = 0.001) and HOMA-IR (p = 0.001). However, gender, genotype, and GHT did not influence AGM development in univariate analysis. These data were confirmed as positive predictors when inserted in a multivariate analysis model. CONCLUSION: This study is the first report on the prevalence of AGM in a large population of PWS. Overall, PWS subjects show a high prevalence of AGM that appears more common in obese and adult subjects. Our data confirm the main role of obesity on the individual metabolic risk clustering in PWS, and thus reinforce the concept that improvement in weight control remains the most important goal of any PWS treatment program.
Authors: Karlijn Pellikaan; Anna G W Rosenberg; Anja A Kattentidt-Mouravieva; Rogier Kersseboom; Anja G Bos-Roubos; José M C Veen-Roelofs; Nina van Wieringen; Franciska M E Hoekstra; Sjoerd A A van den Berg; Aart Jan van der Lely; Laura C G de Graaff Journal: J Clin Endocrinol Metab Date: 2020-12-01 Impact factor: 5.958