Thyroid Hypoplasia as a Cause of Congenital Hypothyroidism in Williams Syndrome
Pediatric Endocrinology Unit, Department of Pediatrics, University of Florence, Florence, Italy.Hormone Research (Impact Factor: 2.48). 10/2008; 70(5):316-8. DOI: 10.1159/000157879
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.
- Gene 12/2011; 494(1):102-4. DOI:10.1016/j.gene.2011.12.007 · 2.14 Impact Factor
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ABSTRACT: Congenital hypothyroidism is the most frequent endocrine disorder in neonates. Controversy exists regarding the necessity to adjust current screening programs to also diagnose patients with central hypothyroidism or those with mild forms of congenital hypothyroidism, who have high TSH levels but normal T(4) and normal T(3) levels (also known as 'subclinical hypothyroidism'). Thyroid hormone replacement should start as soon as the diagnosis is confirmed by measurement of elevated TSH and low serum thyroid hormone levels. Further diagnostic approaches, such as ultrasonography, scintigraphy and measurement of thyroglobulin levels, to determine the subtype of congenital hypothyroidism, should not delay initiation of treatment. Recommendations regarding the initial dosage of levothyroxine vary considerably, and no general accepted guideline exists with regards to initial dosage or optimal time point for dose adjustment according to biochemical parameters. More than 30 years after the introduction of the first neonatal screening programs, mental retardation can be prevented in the majority of children (>90%) with congenital hypothyroidism if therapy is commenced within the first 2 weeks of life, making neonate screening for this disorder the most successful population-based screening test in pediatrics.Nature Reviews Endocrinology 02/2012; 8(2):104-13. DOI:10.1038/nrendo.2011.160 · 13.28 Impact Factor
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ABSTRACT: Williams-Beuren syndrome is a rare neurodevelopmental disorder caused by deletion of 1.5-1.8Mb genes on chromosome 7q11.23. The syndrome was first described as a triad of supra-valvular aortic stenosis, mental retardation, and distinctive facial features. Our patient was referred due to audible inspiratory stridor when he was seven days old. Following endoscopy he was diagnosed with bilateral vocal cord paralysis and was eventually intubated due to respiratory de-compensation followed by tracheotomy. On further workup he was diagnosed with hypothyroidism. Genetic workup supported the diagnosis of Williams-Beuren syndrome. We report here a case with an unusual clinical presentation. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.International journal of pediatric otorhinolaryngology 06/2015; 79(9). DOI:10.1016/j.ijporl.2015.06.023 · 1.19 Impact Factor
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