Disorders of glucose metabolism in Prader–Willi syndrome: Results of a multicenter Italian cohort study

D. Fintini, G. Grugni, S. Bocchini, C. Brufani, S. Di Candia, A. Corrias, M. Delvecchio, A. Salvatoni, L. Ragusa, N. Greggio, A. Franzese, E. Scarano, G. Trifirò, L. Mazzanti, G. Chiumello, M. Cappa, A. Crinò

Research output: Contribution to journalArticlepeer-review


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 18 yrs), Body Mass Index (BMI = kg/m2), 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.
Original languageEnglish
Pages (from-to)842 - 847
Number of pages6
JournalNutrition, Metabolism and Cardiovascular Diseases
Issue number9
Publication statusPublished - Sep 1 2016


  • Diabetes mellitus
  • GH therapy
  • Obesity
  • Prader–Willi syndrome

ASJC Scopus subject areas

  • Medicine (miscellaneous)
  • Endocrinology, Diabetes and Metabolism
  • Nutrition and Dietetics
  • Cardiology and Cardiovascular Medicine


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