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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아내분비학회 Annals of Pediatirc Endocrinology & Metabolism Annals of Pediatirc Endocrinology & Metabolism 제22권 제1호
- 발행연도
- 2017.1
- 수록면
- 65 - 67 (3page)
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초록· 키워드
오류제보하기
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.
목차
등록된 정보가 없습니다.
참고문헌 (17)
참고문헌 신청
Bird LM / 1996 / Sudden death in Williams syndrome: report of ten cases / J Pediatr 129 : 926 ~ 931
Cambiaso P / 2007 / Thyroid morphology and subclinical hypothyroidism in children and adolescents with Williams syndrome / J Pediatr 150 : 62 ~ 65
Ciccone S / 2015 / Central Hypothyroidism and GH Deficiency in a Boy with Williams-Beuren Syndrome [abstract]. In: 54th Annual Meeting of the European Society for Paediatric
Dayal D / 2015 / Congenital hypothyroidism: current perspectives / Res Rep Endocr Disord 5 : 91 ~ 102
Francke U / 1999 / Williams-Beuren syndrome: genes and mechanisms / Hum Mol Genet 8 : 1947 ~ 1954
Cambiaso P / 2007 / Thyroid morphology and subclinical hypothyroidism in children and adolescents with Williams syndrome / J Pediatr 150 : 62 ~ 65
Ciccone S / 2015 / Central Hypothyroidism and GH Deficiency in a Boy with Williams-Beuren Syndrome [abstract]. In: 54th Annual Meeting of the European Society for Paediatric
Dayal D / 2015 / Congenital hypothyroidism: current perspectives / Res Rep Endocr Disord 5 : 91 ~ 102
Francke U / 1999 / Williams-Beuren syndrome: genes and mechanisms / Hum Mol Genet 8 : 1947 ~ 1954
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