Thyroid anomalies in Williams syndrome: investigation of 95 patients

Am J Med Genet A. 2006 May 15;140(10):1098-101. doi: 10.1002/ajmg.a.31210.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Male
  • Thyroid Diseases / blood*
  • Thyroid Diseases / complications
  • Thyroid Diseases / pathology
  • Thyroid Function Tests
  • Thyroid Gland / abnormalities*
  • Thyroid Gland / diagnostic imaging
  • Thyroid Gland / physiopathology
  • Thyrotropin / blood
  • Thyroxine / blood
  • Triiodothyronine / blood
  • Ultrasonography
  • Williams Syndrome / complications*


  • Triiodothyronine
  • Thyrotropin
  • Thyroxine