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Thyroid function and morphology in patients affected by Williams syndrome
Author(s) -
Stagi Stefano,
Bindi Giuseppe,
Neri Anna Silvia,
Lapi Elisabetta,
Losi Stefania,
Jenuso Rita,
Salti Roberto,
Chiarelli Francesco
Publication year - 2005
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1111/j.1365-2265.2005.02365.x
Subject(s) - thyroid , medicine , subclinical infection , thyroid function , thyroid peroxidase , endocrinology , hypoplasia , anti thyroid autoantibodies , thyroid function tests , thyroglobulin , gastroenterology , antibody , immunology , autoantibody
Summary Objective To evaluate the prevalence of abnormalities of thyroid function and morphology in a cohort of patients with Williams syndrome (WS). Methods Serum concentrations of free‐T3, free‐T4, TSH, thyroperoxidase antibodies (TPOA) and thyroglobulin antibodies (TgA), as well as ultrasonographic data, of 20 patients with WS (12 females and eight males), aged 1·7–34·9 years, were evaluated. Results Three cases (15%) of subclinical hypothyroidism were identified. Overt hypothyroidism was diagnosed in two cases (10%). Thyroid antibodies were negative in all patients. Fourteen patients (70%) showed thyroid hypoplasia involving the entire gland. In these patients, the left thyroid lobe appeared usually, but not significantly, reduced compared with the right thyroid lobe. One patient (5%) showed thyroid hemiagenesis. Only five patients (25%) showed a thyroid with normal volume, and of these five, one patient showed marked thyroid hypoplasia of the left lobe. In all WS patients with diagnosis of subclinical or overt hypothyroidism, thyroid hypoplasia was detected. No cases of subclinical or overt hypothyroidism were found in WS with normal thyroid volume. Conclusions This study confirms the presence of alterations of thyroid function in WS and also suggests the frequent occurrence of abnormalities of thyroid morphology in these patients. Patients with WS should be monitored for thyroid function and a thyroid ultrasound screening should be considered, especially in those patients with changes in thyroid function.