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Thyroid Hypoplasia as a Cause of Congenital Hypothyroidism in Williams SyndromeStagi S.a · Manoni C.a · Salti R.a · Cecchi C.a · Chiarelli F.b
aPediatric Endocrinology Unit, Department of Pediatrics, University of Florence, Florence, and bDepartment of Paediatrics, University of Chieti, Chieti, Italy
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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.
© 2008 S. Karger AG, Basel
- Ewart AK, Morris CA, Atkinson D, Jin W, Sternes K, Spallone P, Stock AD, Leppert M, Keating MT: Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet 1993;5:11–16.
- Francke U: Williams-Beuren syndrome: genes and mechanisms. Hum Mol Genet 1999;8:1947–1954.
- Morris CA, Demsey SA, Leonard CO, Dilts C, Blackburn BL: Natural history of Williams syndrome: physical characteristics. J Pediatr 1988;113:318–326.
- Cambiaso P, Orazi C, Digilio MC, Loche S, Capolino R, Tozzi A, Faedda A, Cappa M: Thyroid morphology and subclinical hypothyroidism in children and adolescents with Williams syndrome. J Pediatr 2007;150:62–65.
- Selicorni A, Fratoni A, Pavesi MA, Bottigelli M, Arnaboldi E, Milani D: Thyroid anomalies in Williams syndrome: investigation of 95 patients. Am J Med Genet A 2006;140:1098–1101.
- Stagi S, Bindi G, Neri AS, Lapi E, Losi S, Jenuso R, Salti R, Chiarelli F: Thyroid function and morphology in patients affected by Williams syndrome. Clin Endocrinol (Oxf) 2005;63:456–460.
Bini R, Pela I: New case of thyroid dysgenesis and clinical signs of hypothyroidism in Williams syndrome. Am J Med Genet A 2004;127:183–185.
- Stagi S, Bindi G, Neri AS, Giovannucci-Uzielli ML, Lapi E, Galluzzi F, Salti R: Thyroid hypoplasia of the left lobe in two girls affected by Williams syndrome. Clin Dysmorphol 2003;12:267–268.
- Cammareri V, Vignati G, Nocera G, Beck-Peccoz P, Persani L: Thyroid hemiagenesis and elevated thyrotropin levels in a child with Williams syndrome. Am J Med Genet 1999;85:491–494.
- American Academy of Pediatrics. Committee on Genetics: Healthcare supervision for children with Williams syndrome. Pediatrics 2001;107:1192–1203.
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