Thyroid function in patients with Prader-Willi syndrome: An Italian multicenter study of 339 patients

Lorenzo Iughetti, Giulia Vivi, Antonio Balsamo, Andrea Corrias, Antonino Crinò, Maurizio Delvecchio, Luigi Gargantini, Nella Augusta Greggio, Graziano Grugni, Uros Hladnik, Alba Pilotta, Letizia Ragusa, Alessandro Salvatoni, Malgorzata Wasniewska, Giovanna Weber, Barbara Predieri

Research output: Contribution to journalArticlepeer-review


Prader-Willi syndrome (PWS) is a genetic disorder due to loss of expression of paternally transcribed genes of the imprinted region of chromosome 15q11-13. PWS is characterized by peculiar signs and symptoms and many endocrine abnormalities have been described (growth hormone deficiency, hypogonadotropic hypogonadism). The abnormalities of thyroid function are discussed in literature and published data are discordant. The aim of our study was to report the thyroid function in patients with PWS to identify the prevalence of thyroid dysfunction. Thyroid function tests were carried out in 339 patients with PWS, aged from 0.2 to 50 years. A database was created to collect personal data, anthropometric data, thyroid function data and possible replacement therapy with L-thyroxine. Subjects were classified according to thyroid function as: Euthyroidism (EuT), congenital hypothyroidism (C-HT), hypothyroidism (HT-high thyroid-stimulating hormone [TSH] and low free thyroxine [fT4]), central hypothyroidism (CE-H-low/normal TSH and low fT4), subclinical hypothyroidism (SH-high TSH and normal fT4), and hyperthyroidism (HyperT-low TSH and high fT4). Two hundred and forty-three out of 339 PWS patients were younger than 18 years (71.7%). The prevalence of thyroid dysfunction was 13.6%. Specifically, C-HT was found in four children (1.18%), HT in six patients (1.77%), CE-H in 23 patients (6.78%), SH in 13 patients (3.83%), and HyperT in none. All other subjects were in EuT (86.4%). Hypothyroidism is a frequent feature in subjects with PWS. Thyroid function should be regularly investigated in all PWS patients both at the diagnosis and annually during follow-up.

Original languageEnglish
Pages (from-to)159-165
Number of pages7
JournalJournal of Pediatric Endocrinology and Metabolism
Issue number2
Publication statusPublished - Feb 1 2019


  • congenital hypothyroidism
  • hypothyroidism
  • obesity
  • Prader-Willi syndrome
  • thyroid

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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