Uniparental disomy and pretreatment IGF-1 may predict elevated IGF-1 levels in Prader-Willi patients on GH treatment

Viviana Valeria Palmieri, Antonella Lonero, Sarah Bocchini, Gilda Cassano, Alessio Convertino, Domenico Corica, Antonio Crinò, Valentina Fattorusso, Silvio Ferraris, Danilo Fintini, Adriana Franzese, Graziano Grugni, Lorenzo Iughetti, Rosanna Lia, Francesca Macchi, Simona Filomena Madeo, Patrizia Matarazzo, Luana Nosetti, Sara Osimani, Roberta PajnoGiuseppa Patti, Maria Chiara Pellegrin, Annamaria Perri, Letizia Ragusa, Irene Rutigliano, Michele Sacco, Alessandro Salvatoni, Emanuela Scarano, Stefano Stagi, Gianluca Tornese, Giuliana Trifirò, Malgorzata Wasniewska, Rita Fischetto, Paola Giordano, Maria Rosaria Licenziati, Maurizio Delvecchio

Research output: Contribution to journalArticlepeer-review


Pediatric patients with Prader-Willi syndrome (PWS) can be treated with recombinant human GH (rhGH). These patients are highly sensitive to rhGH and the standard doses suggested by the international guidelines often result in IGF-1 above the normal range. We aimed to evaluate 1 the proper rhGH dose to optimize auxological outcomes and to avoid potential overtreatment, and 2 which patients are more sensitive to rhGH. In this multicenter real-life study, we recruited 215 patients with PWS older than 1 year, on rhGH at least for 6 months, from Italian Centers for PWS care. We collected auxological parameters, rhGH dose, IGF-1 at recruitment and (when available) at start of treatment. The rhGH dose was 4.3 (0.7/8.4) mg/m2/week. At recruitment, IGF-1 was normal in 72.1% and elevated in 27.9% of the patients. In the group of 115 patients with IGF-1 available at start of rhGH, normal pretreatment IGF-1 and uniparental disomy were associated with elevated IGF-1 during the therapy. No difference in height and growth velocity was found between patients treated with the highest and the lowest range dose. The rhGH dose prescribed in Italy seems lower than the recommended one. Normal pretreatment IGF-1 and uniparental disomy are risk factors for elevated IGF-1. The latter seems to be associated with higher sensitivity to GH. In case of these risk factors, we recommend a more accurate titration of the dose to avoid overtreatment and its potential side effects.

Original languageEnglish
Pages (from-to)9-15
Number of pages7
JournalGrowth Hormone and IGF Research
Publication statusPublished - Oct 1 2019


  • Adverse effects
  • Growth hormone therapy
  • IGF-1
  • Prader-Willi syndrome
  • Uniparental disomy

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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