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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Fei Hong / Toppari, Jorma / Turan, Serap Demircioglu

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Volume 32, Issue 2


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

Lorenzo Iughetti
  • Corresponding author
  • Department of Medical and Surgical Sciences of Mother, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy
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/ Giulia Vivi
  • Department of Medical and Surgical Sciences of Mother, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy
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/ Antonio Balsamo / Andrea Corrias / Antonino Crinò
  • Autoimmune Endocrine Diseases Unit, Bambino Gesù Children’s Hospital, Research Institute, Rome, Italy
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/ Maurizio Delvecchio / Luigi Gargantini / Nella Augusta Greggio / Graziano Grugni / Uros Hladnik
  • Genetics Unit, Mauro Baschirotto Institute for Rare Diseases-B.I.R.D. Foundation, Costozza di Longare (Vicenza), Italy
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/ Alba Pilotta / Letizia Ragusa
  • Department of Pediatric Endocrinology, Oasi Maria SS, Research Institute, Troina (Enna), Italy
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/ Alessandro Salvatoni / Malgorzata Wasniewska / Giovanna Weber
  • Department of Pediatrics, Vita Salute San Raffaele University, San Raffaele Scientific Institute, Milan, Italy
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/ Barbara Predieri
  • Department of Medical and Surgical Sciences of Mother, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy
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Published Online: 2019-01-31 | DOI: https://doi.org/10.1515/jpem-2018-0388



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.

Keywords: congenital hypothyroidism; hypothyroidism; obesity; Prader-Willi syndrome; thyroid


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About the article

Corresponding author: Prof. Lorenzo Iughetti, Department of Medical and Surgical Sciences of Mother, Children and Adults, University of Modena and Reggio Emilia, Via del Pozzo n. 71, 41124 Modena, Italy, Phone: +39 0594225382

Received: 2018-09-05

Accepted: 2018-11-25

Published Online: 2019-01-31

Published in Print: 2019-02-25

Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

Research funding: None declared.

Employment or leadership: None declared.

Honorarium: None declared.

Competing interests: None declared

Citation Information: Journal of Pediatric Endocrinology and Metabolism, Volume 32, Issue 2, Pages 159–165, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2018-0388.

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