TY - JOUR
T1 - Thyroid function in patients with Prader-Willi syndrome
T2 - An Italian multicenter study of 339 patients
AU - Iughetti, Lorenzo
AU - Vivi, Giulia
AU - Balsamo, Antonio
AU - Corrias, Andrea
AU - Crinò, Antonino
AU - Delvecchio, Maurizio
AU - Gargantini, Luigi
AU - Greggio, Nella Augusta
AU - Grugni, Graziano
AU - Hladnik, Uros
AU - Pilotta, Alba
AU - Ragusa, Letizia
AU - Salvatoni, Alessandro
AU - Wasniewska, Malgorzata
AU - Weber, Giovanna
AU - Predieri, Barbara
PY - 2019/2/1
Y1 - 2019/2/1
N2 - 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.
AB - 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.
KW - congenital hypothyroidism
KW - hypothyroidism
KW - obesity
KW - Prader-Willi syndrome
KW - thyroid
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U2 - 10.1515/jpem-2018-0388
DO - 10.1515/jpem-2018-0388
M3 - Article
C2 - 30703060
AN - SCOPUS:85061156884
VL - 32
SP - 159
EP - 165
JO - Journal of Pediatric Endocrinology and Metabolism
JF - Journal of Pediatric Endocrinology and Metabolism
SN - 0334-018X
IS - 2
ER -