Thyroid Hypoplasia as a Cause of Congenital Hypothyroidism in Williams SyndromeStagi S. · Manoni C. · Salti R. · Cecchi C. · Chiarelli F.
aPediatric Endocrinology Unit, Department of Pediatrics, University of Florence, Florence, and bDepartment of Paediatrics, University of Chieti, Chieti, Italy
In the Williams-Beuren syndrome (WBS), disorders of the thyroid function and morphology have been reported and programs of thyroid screening and surveillance are recommended. However, the frequency of biochemical thyroid assessment, particularly in the first year of life, is being debated. In this report we describe an infant with WBS and congenital hypothyroidism, due to an important thyroid hypoplasia. The patient, a 1-month-old female, negative at primary neonatal thyroid screening, was referred to our hospital for dyspnea. Thyroid function tests showed a raised TSH (42 mIU/l; normal range 0.5–4 mIU/l) with a low FT4 concentration (10.21 pmol/l; normal range: 10.29–24.45 pmol/l). Ultrasound examination of the neck showed a significant thyroid hypoplasia, whereas 99mTc-pertechnetate thyroid scintigraphy evidenced a thyroid gland in normal position, with reduced shape and overall weak fixation. Therefore, treatment with L-thyroxinewas started. Thyroid hypoplasia is a frequent characteristic of WBS and abnormalities of thyroid function are common in patients with this feature. Therefore, the possibility of congenital hypothyroidism should always be taken into consideration too and, even if congenital hypothyroidism neonatal screening is negative, thyroid (morphology and function) evaluation should be regularly assessed when the diagnosis is made and, thereafter, every year in the first years of life.
Dr. Stefano Stagi
Endocrine Pediatric Unit, University of Florence
Anna Meyer Children’s Hospital, Via Luca Giordano 13
IT–51032 Florence (Italy)
Tel. + 39 055 566 2496, Fax +39 055 566 2400, E-Mail email@example.com
Published online: September 30, 2008
Number of Print Pages : 3
Number of Figures : 1, Number of Tables : 0, Number of References : 10
Hormone Research (From Developmental Endocrinology to Clinical Research)
Vol. 70, No. 5, Year 2008 (Cover Date: November 2008)
Journal Editor: Czernichow P. (Paris)
ISSN: 0301–0163 (Print), eISSN: 1423–0046 (Online)
For additional information: http://www.karger.com/HRE