Thyroid disorders in children and adolescents with Prader-WiIIi syndrome: data from 299 Italian patients

Background: Variable findings regarding tbyroid function in subjects with Pl'ader-Willi syndrome (PWS) have been found in tbe Iiterature. The reported prevalence of hypothyroidism (HT) ranged fi'om 2 to 32% while centrai hypothyroidism is 19%. Objective and bypotheses: The aim of our Italian multiccnter invesligalion is 10 report the tbyroid function in patients with PWS in order lo identii)' the prevalence of tbyroid patbology. Methods: Thyroid function tests were canied out on 299 children and adolescents with genetically confirmed PWS ( 183 boys) included at a mediall age of 2.9 years (0.2-17.9) alld BMI of 17,6 lcg/m2 (10.4-67.8). Subjects were classified according 10 thyroid function as: eutbyroidism (Eu T), congenital hypothyroidism (C-HT), hypotbyroidism (HT high TSH and low FT4), centrai hypothyroidism (CE-HT -Iow/nonnal TSII and low FT4), and subclinical hypothyroidism(S-HT -high TSH and normal FT4). Results: In our study populatioll tbe prevalence ofEuT was 89.3%. C-HT was found in 1.7%, while tbe prevalence ofIlT was 3.7%. Eightout of II cases with HT were affected by CE-IIT. Conclusions: Thyroid axis dysfunction seems to be a frequent fealUre ( 10.7%) in subjects witb PWS compared to Ihe generai population. However, we found a lower prevalence of HT in our PWS subjeets respect lo otber nalional database thal included fcwer palients. Pediatricians should be awarc of tbis association so Ihis possibility is considercd while cvaluating PWS patients.