title: Thyroid anomalies in Williams syndrome: investigation of 95 patients.
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.
authors.affiliation: Ambulatorio di Genetica Clinica, 1 degree Clinica Pediatrica, Fondazione Ospedale Maggiore IRCCS, Milano, Italy. ambulatorio@gencli.it
authors.forename: A
authors.initials: A
authors.lastname: Selicorni
authors.forename: A
authors.initials: A
authors.lastname: Fratoni
authors.forename: M A
authors.initials: MA
authors.lastname: Pavesi
authors.forename: M
authors.initials: M
authors.lastname: Bottigelli
authors.forename: E
authors.initials: E
authors.lastname: Arnaboldi
authors.forename: D
authors.initials: D
authors.lastname: Milani
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D013959:Thyroid Diseases / Q000097:blood* / Q000150:complications / Q000473:pathology; D013960:Thyroid Function Tests; D013961:Thyroid Gland / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000503:physiopathology; D013972:Thyrotropin / Q000097:blood; D013974:Thyroxine / Q000097:blood; D014284:Triiodothyronine / Q000097:blood; D014463:Ultrasonography; D018980:Williams Syndrome / Q000150:complications*
chemical_list: D014284:Triiodothyronine; D013972:Thyrotropin; D013974:Thyroxine