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Purpose <p>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.</p> Methods <p>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.</p> Results <p>The analysis of database revealed: (1) a reduction of obesity prevalence compared to previous data in the Italian population of PWS (51.0% <i>versus</i> 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 &lt; 18 years (91.4%) and 51 &gt; 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 &gt; 18 years; (6) patients &gt; 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% <i>versus</i> 40.9% and 31.0% <i>versus</i> 46.0%, respectively; <i>p</i> &lt; 0.001); (7) the median age at genetic diagnosis was lower in the younger group compared to those &gt; 18 years (0.1 years <i>versus</i> 3.7 years; <i>p</i> &lt; 0.001).</p> Conclusion <p>Our findings confirm the high prevalence of endocrine and metabolic comorbidities in Italian subjects with PWS.</p>

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Understanding the burden of endocrine and metabolic disorders in Prader-Willi syndrome: data from the Italian registry

  • 期刊论文

  • 发表日期：

    2026年2月12日

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  • Graziano Grugni,
  • Adele Rocchetti,
  • Carmen Bucolo,
  • Raffaele Buganza,
  • Giorgia Buoncuore,
  • Annamaria Colao,
  • Domenico Corica,
  • Antonino Crinò,
  • Francesca Dassie,
  • Luisa de Sanctis,
  • Maurizio Delvecchio,
  • Francesca Di Candia,
  • Maria Felicia Faienza,
  • Danilo Fintini,
  • Donatella Greco,
  • Laura Guazzarotti,
  • Valentina Lo Preiato,
  • Pietro Maffei,
  • Michela Mariani,
  • Enza Mozzillo,
  • Uberto Pagotto,
  • Roberta Pajno,
  • Giuseppa Patti,
  • Irene Rutigliano,
  • Marco Salvatore,
  • Alessandro Sartorio,
  • Emanuela Scarano,
  • Sofia Siena,
  • Gianluca Tamaro,
  • Gianluca Tornese,
  • Rossella Vitale,
  • Malgorzata Wasniewska,
  • Giuseppe Zampino,
  • Paola Torreri,
  • Mohamad Maghnie

摘要

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.