ArticleAnnals of pediatric endocrinology & metabolism2017
A rare association of central hypothyroidism and adrenal insufficiency in a boy with Williams-Beuren syndrome.
Article in Annals of pediatric endocrinology & metabolism, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 7 citations in OpenAlex.
- Combined use of thyroid stimulating hormone plus free thyroxine levels and gestational age at birth for the prediction of neonatal hypothyroidism and associated risk factors.Experimental and therapeutic medicine · 2020Article
- Autoimmune Thyroid Disease in Specific Genetic Syndromes in Childhood and Adolescence.Frontiers in endocrinology · 2020Review
- Williams Syndrome, Human Self-Domestication, and Language Evolution.Frontiers in psychology · 2019Article
- De Novo Synthesis of Elastin by Exogenous Delivery of Synthetic Modified mRNA into Skin and Elastin-Deficient Cells.Molecular therapy. Nucleic acids · 2018Article
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3 authors at 1 institution in 1 country.
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Abstract
Primary hypothyroidism related to morphological and volumetric abnormalities of the thyroid gland is one of the commonest of several endocrine dysfunctions in Williams-Beuren syndrome (WBS). We report a 10-month-old boy with WBS who presented with central hypothyroidism. During the neonatal period, he had prolonged jaundice, feeding difficulties and episodes of colic that continued during early infancy. Additionally, there was slowing of growth and mild developmental delay. He underwent surgical repair for supravalvular aortic stenosis at 6 months of age. An evaluation done to exclude cortisol deficiency before initiating levothyroxine lead to the detection of secondary adrenal insufficiency, unreported previously in WBS. In addition, insulin-like growth factor-1 (IGF-1) and IGF-binding protein-3 levels were low. This report of hypopituitarism in WBS indicates a need for complete evaluation of pituitary dysfunction in children with WBS.
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