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.
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
2. Bittel DC, Butler MG. Prader-Willi syndrome. Clinical genetics, cytogenetics and molecular biology. Expert Rev Mol Med 2005;7:1–20.10.1017/S1462399405009531Search in Google Scholar PubMed PubMed Central
3. Ledbetter DH, Riccardi VM, Airhart SD, Strobel RJ, Keenan SB, et al. Deletions of chromosome 15 as a cause of Prader-Willi syndrome. N Engl J Med 1981;304:325–9.10.1056/NEJM198102053040604Search in Google Scholar PubMed
6. Gunay-Aygun M, Schwartz S, Heeger S, O’Riordan MA, Cassidy SB. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics 2001;108:E92.10.1542/peds.108.5.e92Search in Google Scholar PubMed
7. Crino A, Di Giorgio G, Livieri C, Grugni G, Beccaria L, et al. A survey on Prader-Willi syndrome in the Italian population: prevalence of historical and clinical signs. J Pediatr Endocrinol Metab 2009;22:883–9.10.1515/JPEM.2009.22.10.883Search in Google Scholar
8. Iughetti L, Bosio L, Corrias A, Gargantini L, Ragusa L, et al. Pituitary height and neuroradiological alterations in patients with Prader-Labhart-Willi syndrome. Eur J Pediatr 2008;167: 701–2.10.1007/s00431-007-0555-3Search in Google Scholar PubMed
9. Miller JL, Goldstone AP, Couch JA, Shuster J, He G, et al. Pituitary abnormalities in Prader-Willi syndrome and early-onset morbid obesity. Am J Med Genet A 2008;146A:570–7.10.1002/ajmg.a.31677Search in Google Scholar PubMed
10. Vaiani E, Herzovich V, Chaler E, Chertkoff L, Rivarola MA, et al. Thyroid axis dysfunction in patients with Prader-Willi syndrome during the first 2 years of life. Clin Endocrinol (Oxf) 2010;73:546–50.10.1111/j.1365-2265.2010.03840.xSearch in Google Scholar PubMed
12. Sharkia M, Michaud S, Berthier MT, Giguere Y, Stewart L, et al. Thyroid function from birth to adolescence in Prader-Willi Syndrome. J Pediatr 2013;163:800–5.10.1016/j.jpeds.2013.03.058Search in Google Scholar PubMed
13. Cassio A, Corbetta C, Antonozzi I, Calaciura F, Caruso U, et al. The Italian screening program for primary congenital hypothyroidism: actions to improve screening, diagnosis, follow-up, and surveillance. J Endocrinol Invest 2013;36:195–203.Search in Google Scholar
14. Dudley O, McManus B, Vogels A, Whittington J, Muscatelli F. Cross-cultural comparisons of obesity and growth in Prader-Willi syndrome. J Intellect Disabil Res 2008;52:426–36.10.1111/j.1365-2788.2008.01044.xSearch in Google Scholar PubMed
15. Tauber M, Barbeau C, Jouret B, Pienkowski C, Malzac P, et al. Auxological and endocrine evolution of 28 children with Prader-Willi syndrome: effect of GH therapy in 14 children. Horm Res 2000;53:279–87.10.1159/000053184Search in Google Scholar PubMed
16. Festen DA, Visser TJ, Otten BJ, Wit JM, Duivenvoorden HJ, et al. Thyroid hormone levels in children with Prader-Willi syndrome before and during growth hormone treatment. Clin Endocrinol (Oxf) 2007;67:449–56.10.1111/j.1365-2265.2007.02910.xSearch in Google Scholar PubMed
17. Diene G, Mimoun E, Feigerlova E, Caula S, Molinas C, et al. Endocrine disorders in children with Prader-Willi syndrome – data from 142 children of the French database. Horm Res Paediatr 2010;74:121–8.10.1159/000313377Search in Google Scholar PubMed
20. Bocchini S, Fintini D, Grugni G, Boiani A, Convertino A, et al. Congenital hypothyroidism due to ectopic sublingual thyroid gland in Prader-Willi Syndrome: a case report. Ital J Pediatr 2017;43:87–90.10.1186/s13052-017-0403-7Search in Google Scholar PubMed PubMed Central
21. Agha A, Walker D, Perry L, Drake WM, Chew SL, et al. Unmasking of central hypothyroidism following growth hormone replacement in adult hypopituitary patients. Clin Endocrinol (Oxf) 2007;66:72–7.10.1111/j.1365-2265.2006.02688.xSearch in Google Scholar PubMed
23. Portes ES, Oliveira JH, MacCagnan P, Abucham J. Changes in serum thyroid hormones levels and their mechanisms during long-term growth hormone (GH) replacement therapy in GH deficient children. Clin Endocrinol (Oxf) 2000;53: 183–9.10.1046/j.1365-2265.2000.01071.xSearch in Google Scholar PubMed
24. Kalina-Faska B, Kalina M, Koehler B. Effects of recombinant growth hormone therapy on thyroid hormone concentrations. Int J Clin Pharmacol Ther 2004;42:30–4.10.5414/CPP42030Search in Google Scholar
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