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Thyroid anomalies in Williams syndrome: Investigation of 95 patients
Author(s) -
Selicorni A.,
Fratoni A.,
Pavesi M.A.,
Bottigelli M.,
Arnaboldi E.,
Milani D.
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31210
Subject(s) - thyroid , medicine , hypoplasia , incidence (geometry) , population , pediatrics , endocrinology , gastroenterology , pathology , physics , environmental health , optics
Abstract Thyroid involvement in Williams syndrome (WS) was recently reported in two small groups of patients, both showing an increased prevalence of elevation of TSH serum concentration; in one of the two reports, 70% of the patients demonstrated a hypoplasia of thyroid gland as well. In our institution, we currently follow a large population of WS patients who periodically undergo a multispecialist clinical evaluation that includes ultrasound evaluation of the thyroid gland, and levels of FT3, FT4, TSH, and anti‐thyroid antibodies. Here, we report on the prevalence of thyroid structural and functional anomalies, in a population of 95 WS patients, half of them followed for more than 5 years. Our study confirms the increased incidence of both elevated TSH serum values (37.9% in our sample) and thyroid gland hypoplasia (74.7%). Moreover, we demonstrated that TSH elevation declines with age. For this reason, we suggest that a complete thyroid evaluation be performed in every patient with WS, and that this medical complication should be periodically searched for in follow‐up visits. © 2006 Wiley‐Liss, Inc.