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

Lorenzo Iughetti 1 , Giulia Vivi 1 , Antonio Balsamo 2 , Andrea Corrias 3 , Antonino Crinò 4 , Maurizio Delvecchio 5 , Luigi Gargantini 6 , Nella Augusta Greggio 7 , Graziano Grugni 8 , Uros Hladnik 9 , Alba Pilotta 10 , Letizia Ragusa 11 , Alessandro Salvatoni 12 , Malgorzata Wasniewska 13 , Giovanna Weber 14 ,  and Barbara Predieri 1
  • 1 Department of Medical and Surgical Sciences of Mother, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy
  • 2 Department of Pediatrics, University of Bologna, Bologna, Italy
  • 3 Department of Pediatrics, Regina Margherita Children’s Hospital, Turin, Italy
  • 4 Autoimmune Endocrine Diseases Unit, Bambino Gesù Children’s Hospital, Research Institute, Rome, Italy
  • 5 Pediatric Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy
  • 6 Department of Pediatrics, Civic Hospital, Treviglio (Bergamo), Italy
  • 7 Department of Pediatrics, University of Padova, Padova, Italy
  • 8 Division of Auxology, Istituto Auxologico Italiano – IRCCS, Piancavallo (Verbania),, Italy
  • 9 Genetics Unit, Mauro Baschirotto Institute for Rare Diseases-B.I.R.D. Foundation, Costozza di Longare (Vicenza), Italy
  • 10 Department of Pediatrics, University of Brescia, Brescia, Italy
  • 11 Department of Pediatric Endocrinology, Oasi Maria SS, Research Institute, Troina (Enna), Italy
  • 12 Department of Pediatrics, University of Insubria, Varese, Italy
  • 13 Department of Pediatrics, University of Messina, Messina, Italy
  • 14 Department of Pediatrics, Vita Salute San Raffaele University, San Raffaele Scientific Institute, Milan, Italy
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
  • Pediatric Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy
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, Luigi Gargantini, Nella Augusta Greggio, Graziano Grugni
  • Division of Auxology, Istituto Auxologico Italiano – IRCCS, Piancavallo (Verbania),, Italy
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, 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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and 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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Abstract

Background

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.

Methods

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).

Results

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%).

Conclusions

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.

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The Journal of Pediatric Endocrinology and Metabolism (JPEM) is the only international journal dedicated exclusively to endocrinology in the neonatal, pediatric and adolescent age groups, and publishes the results of clinical investigations in pediatric endocrinology and basic research. JPEM publishes Review Articles, Original Research, Case Reports, Short Communications and Letters to the Editor.

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