Purpose This study is a cross-sectional analysis of data from the Italian registry for patients with PWS, aimed at assessing the prevalence of endocrine and metabolic abnormalities in 539 patients with Prader-Willi syndrome (PWS), aged 0.0 to 61.6 years. Demographic and genetic data were also analyzed. Methods Patients were recruited from 18 PWS referral centers participating in the Italian PWS registry. Each subject underwent comprehensive health screening as part of routine clinical care. Results The analysis of database revealed: (1) a reduction of obesity prevalence compared to previous data in the Italian population of PWS (51.0% versus 62.6%); (2) a high frequency of endocrine disorders (hypogonadism 53.5%, hypothyroidism 16.1%, central adrenal insufficiency 5.9%, precocious puberty 5.6%); (3) 337 individuals were undergoing GH therapy (62.5%), including 286 < 18 years (91.4%) and 51 > 18 years (22.6%); (4) a high prevalence of altered glucose metabolism (27.4%), dyslipidemia (29.7%), hyperuricemia (10.4%), hypovitaminosis D (50.2%), osteoporosis (6.9%), metabolic dysfunction-associated steatotic liver disease (33.3%) and cholelithiasis (13.3%); (5) endocrine and metabolic abnormalities were more frequent among patients > 18 years; (6) patients > 18 years had a higher rate of paternal 15q11.2-q13 deletions and a lower rate of maternal uniparental disomy for chromosome 15 than younger individuals (61.1% versus 40.9% and 31.0% versus 46.0%, respectively; p < 0.001); (7) the median age at genetic diagnosis was lower in the younger group compared to those > 18 years (0.1 years versus 3.7 years; p < 0.001). Conclusion Our findings confirm the high prevalence of endocrine and metabolic comorbidities in Italian subjects with PWS.
Understanding the burden of endocrine and metabolic disorders in Prader-Willi syndrome: data from the Italian registry
de Sanctis L.;Delvecchio M.;Faienza M. F.;Maffei P.;Patti G.;Salvatore M.;Sartorio A.;Vitale R.;
2026-01-01
Abstract
Purpose This study is a cross-sectional analysis of data from the Italian registry for patients with PWS, aimed at assessing the prevalence of endocrine and metabolic abnormalities in 539 patients with Prader-Willi syndrome (PWS), aged 0.0 to 61.6 years. Demographic and genetic data were also analyzed. Methods Patients were recruited from 18 PWS referral centers participating in the Italian PWS registry. Each subject underwent comprehensive health screening as part of routine clinical care. Results The analysis of database revealed: (1) a reduction of obesity prevalence compared to previous data in the Italian population of PWS (51.0% versus 62.6%); (2) a high frequency of endocrine disorders (hypogonadism 53.5%, hypothyroidism 16.1%, central adrenal insufficiency 5.9%, precocious puberty 5.6%); (3) 337 individuals were undergoing GH therapy (62.5%), including 286 < 18 years (91.4%) and 51 > 18 years (22.6%); (4) a high prevalence of altered glucose metabolism (27.4%), dyslipidemia (29.7%), hyperuricemia (10.4%), hypovitaminosis D (50.2%), osteoporosis (6.9%), metabolic dysfunction-associated steatotic liver disease (33.3%) and cholelithiasis (13.3%); (5) endocrine and metabolic abnormalities were more frequent among patients > 18 years; (6) patients > 18 years had a higher rate of paternal 15q11.2-q13 deletions and a lower rate of maternal uniparental disomy for chromosome 15 than younger individuals (61.1% versus 40.9% and 31.0% versus 46.0%, respectively; p < 0.001); (7) the median age at genetic diagnosis was lower in the younger group compared to those > 18 years (0.1 years versus 3.7 years; p < 0.001). Conclusion Our findings confirm the high prevalence of endocrine and metabolic comorbidities in Italian subjects with PWS.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
