Document Detail

Thyroid hypoplasia as a cause of congenital hypothyroidism in Williams syndrome.
MedLine Citation:
PMID:  18824871     Owner:  NLM     Status:  MEDLINE    
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 FT(4) concentration (10.21 pmol/l; normal range: 10.29-24.45 pmol/l). Ultrasound examination of the neck showed a significant thyroid hypoplasia, whereas (99m)Tc-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.
S Stagi; C Manoni; R Salti; C Cecchi; F Chiarelli
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2008-09-30
Journal Detail:
Title:  Hormone research     Volume:  70     ISSN:  1423-0046     ISO Abbreviation:  Horm. Res.     Publication Date:  2008  
Date Detail:
Created Date:  2008-11-21     Completed Date:  2009-01-21     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0366126     Medline TA:  Horm Res     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  316-8     Citation Subset:  IM    
Copyright Information:
Copyright 2008 S. Karger AG, Basel.
Pediatric Endocrinology Unit, Department of Pediatrics, University of Florence, Florence, Italy.
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MeSH Terms
Congenital Hypothyroidism / drug therapy,  etiology*,  pathology
Infant, Newborn
Neonatal Screening
Thyroid Gland / abnormalities*,  pathology
Thyroxine / therapeutic use
Williams Syndrome / complications*,  pathology
Reg. No./Substance:

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