Ann Pediatr Endocrinol Metab.  2017 Mar;22(1):65-67. 10.6065/apem.2017.22.1.65.

A rare association of central hypothyroidism and adrenal insufficiency in a boy with Williams-Beuren syndrome

• Dayal D
• Giri D
• Senniappan S

• KMID: 2409802
• DOI: http://doi.org/10.6065/apem.2017.22.1.65

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.

Keyword

Williams-Beuren syndrome; Central hypothyroidism; Adrenal insufficiency; Hypopituitarism

MeSH Terms

Adrenal Insufficiency*
Aortic Stenosis, Supravalvular
Child
Colic
Humans
Hydrocortisone
Hypopituitarism
Hypothyroidism*
Infant
Jaundice
Male*
Thyroid Gland
Thyroxine
Williams Syndrome*
Hydrocortisone
Thyroxine

Reference

1. Francke U. Williams-Beuren syndrome: genes and mechanisms. Hum Mol Genet. 1999; 8:1947–1954. PMID: 10469848.

2. Strømme P, Bjørnstad PG, Ramstad K. Prevalence estimation of Williams syndrome. J Child Neurol. 2002; 17:269–271. PMID: 12088082.

3. Morris CA, Demsey SA, Leonard CO, Dilts C, Blackburn BL. Natural history of Williams syndrome: physical characteristics. J Pediatr. 1988; 113:318–326. PMID: 2456379.

4. Kim YM, Cho JH, Kang E, Kim GH, Seo EJ, Lee BH, et al. Endocrine dysfunctions in children with Williams-Beuren syndrome. Ann Pediatr Endocrinol Metab. 2016; 21:15–20. PMID: 27104174.

5. Xekouki P, Fryssira H, Maniati-Christidi M, Amenta S, Karavitakis EM, Kanaka-Gantenbein C, et al. Growth hormone deficiency in a child with Williams-Beuren syndrome. The response to growth hormone therapy. J Pediatr Endocrinol Metab. 2005; 18:205–207. PMID: 15751610.

6. Palacios-Verdú MG, Segura-Puimedon M, Borralleras C, Flores R, Del Campo M, Campuzano V, et al. Metabolic abnormalities in Williams-Beuren syndrome. J Med Genet. 2015; 52:248–255. PMID: 25663682.

7. Stagi S, Manoni C, Scalini P, Chiarelli F, Verrotti A, Cecchi C, et al. Bone mineral status and metabolism in patients with Williams-Beuren syndrome. Hormones (Athens). 2016; 15:404–412.

8. Selicorni A, Fratoni A, Pavesi MA, Bottigelli M, Arnaboldi E, Milani D. Thyroid anomalies in Williams syndrome: investigation of 95 patients. Am J Med Genet A. 2006; 140:1098–1101. PMID: 16596673.

9. Cambiaso P, Orazi C, Digilio MC, Loche S, Capolino R, Tozzi A, et al. Thyroid morphology and subclinical hypothyroidism in children and adolescents with Williams syndrome. J Pediatr. 2007; 150:62–65. PMID: 17188616.

10. Stagi S, Manoni C, Salti R, Cecchi C, Chiarelli F. Thyroid hypoplasia as a cause of congenital hypothyroidism in Williams syndrome. Horm Res. 2008; 70:316–318. PMID: 18824871.

11. Ciccone S, Fumarola A, Bigoni S, Bonifacci V, Marrella EM, Buldrini B, et al. Central Hypothyroidism and GH Deficiency in a Boy with Williams-Beuren Syndrome [abstract]. In: 54th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE); 2015 Oct 1-3; Barcelona, Spain. Horm Res Paediatr. 2015; 84(suppl 1):1–622. Abstract No. P3-1172.

12. Dayal D, Prasad R. Congenital hypothyroidism: current perspectives. Res Rep Endocr Disord. 2015; 5:91–102.

13. Lense MD, Tomarken AJ, Dykens EM. Diurnal cortisol profile in Williams syndrome in novel and familiar settings. Am J Intellect Dev Disabil. 2013; 118:201–210. PMID: 23734615.

14. Olsen M, Fahy CJ, Costi DA, Kelly AJ, Burgoyne LL. Anaesthesia-related haemodynamic complications in Williams syndrome patients: a review of one institution's experience. Anaesth Intensive Care. 2014; 42:619–624. PMID: 25233176.

15. van Son JA, Edwards WD, Danielson GK. 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. 1994; 108:21–28. PMID: 8028375.

16. Bird LM, Billman GF, Lacro RV, Spicer RL, Jariwala LK, Hoyme HE, et al. Sudden death in Williams syndrome: report of ten cases. J Pediatr. 1996; 129:926–931. PMID: 8969740.

17. Serrano N, Jiménez JJ, Brouard MT, Málaga J, Mora ML. Acute adrenal insufficiency after cardiac surgery. Crit Care Med. 2000; 28:569–570. PMID: 10708203.