A rare association of central hypothyroidism and adrenal insufficiency in a boy with Williams-Beuren syndrome
2
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
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.
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.
참고문헌 (17)
- Francke U, "Williams-Beuren syndrome: genes and mechanisms", Hum Mol Genet, 8, pp.1947~1954 (1999)
- Strømme P, "Prevalence estimation of Williams syndrome", J Child Neurol, 17, pp.269~271 (2002)
- Morris CA, "Natural history of Williams syndrome: physical characteristics", J Pediatr, 113, pp.318~326 (1988)
- Yoon-Myung Kim, "Endocrine dysfunctions in children with Williams- Beuren syndrome", Annals of Pediatirc Endocrinology & Metabolism, 21(1), pp.15~20 (2016), 대한소아내분비학회
- Xekouki P, "Growth hormone deficiency in a child with Williams-Beuren syndrome. The response to growth hormone therapy", J Pediatr Endocrinol Metab, 18, pp.205~207 (2005)
- Palacios-Verdú MG, "Metabolic abnormalities in Williams-Beuren syndrome", J Med Genet, 52, pp.248~255 (2015)
- Stagi S, "Bone mineral status and metabolism in patients with Williams-Beuren syndrome", Hormones (Athens), 15, pp.404~412 (2016)
- Selicorni A, "Thyroid anomalies in Williams syndrome: investigation of 95 patients", Am J Med Genet A, 140, pp.1098~1101 (2006)
- Cambiaso P, "Thyroid morphology and subclinical hypothyroidism in children and adolescents with Williams syndrome", J Pediatr, 150, pp.62~65 (2007)
- Stagi S, "Thyroid hypoplasia as a cause of congenital hypothyroidism in Williams syndrome", Horm Res, 70, pp.316~318 (2008)
- . In: 54th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE); 2015 Oct 1-3; Barcelona, Spain, "Horm Res Paediatr", 2015, 1~622
- Dayal D, "Congenital hypothyroidism: current perspectives", Res Rep Endocr Disord, 5, pp.91~102 (2015)
- Lense MD, "Diurnal cortisol profile in Williams syndrome in novel and familiar settings", Am J Intellect Dev Disabil, 118, pp.201~210 (2013)
- Olsen M, "Anaesthesia-related haemodynamic complications in Williams syndrome patients: a review of one institution's experience", Anaesth Intensive Care, 42, pp.619~624 (2014)
- van Son JA, "Pathology of coronary arteries, myocardium, and great arteries in supravalvular aortic stenosis. Report of five cases with implications for surgical treatment", J Thorac Cardiovasc Surg, 108, pp.21~28 (1994)
- Bird LM, "Sudden death in Williams syndrome: report of ten cases", J Pediatr, 129, pp.926~931 (1996)
- Serrano N, "Acute adrenal insufficiency after cardiac surgery", Crit Care Med, 28, pp.569~570 (2000)