Ann Pediatr Endocrinol Metab.  2016 Dec;21(4):230-234. 10.6065/apem.2016.21.4.230.

Severe hyponatremia and repeated intestinal resections for intestinal dysmotility mimicking congenital aganglionic megacolon due to delay in the diagnosis of congenital hypothyroidism

Affiliations
  • 1Department of Paediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Turkey. dr_huseyin@hotmail.com
  • 2Department of Paediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • 3Department of Paediatric Surgery, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • 4Department of Paediatric Intensive Care Unit, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Abstract

Congenital hypothyroidism (CH) may present with nonspecific signs and symptoms, though, majority of infants can be asymptomatic. Therefore, understimation and delay in diagnosis may result in severe complications. A 5-month-old female admitted to our clinic with the history of repeated surgical operations due to the diagnosis of congenital aganglionic megacolon. Investigations performed in our clinic revealed the diagnosis of congenital (primary) hypothyroidism due to thyroid agenesis. Histopathologic evaluation of previously resected colon sample revealed normal ganglionic cell included colon. During follow-up she developed severe hyponatremia with a plasma sodium level of 106 mEq/L. Eunatremia was maintained following achievement of euthyroid state. In conclusion, since presenting symptoms can be variable and nonspecific, hypotyhroidism should be kept in mind in the differential diagnosis of patients with persistent abdominal distention mimicking aganglionic megacolon and severe hyponatremia of unknown origin.

Keyword

Congenital hypothyroidism; Hyponatremia; Congenital aganglionic megacolon

Figure

  • Fig. 1 Plasma sodium levels of patient during follow-up.

  • Fig. 2 Thyroid scan using 99mTc revealed no radiotracer uptake suggested thyroid agenesis.


Reference

1. Rastogi MV, LaFranchi SH. Congenital hypothyroidism. Orphanet J Rare Dis. 2010; 5:17. PMID: 20537182.
Article
2. Chelimsky G, Davis ID, Kliegman RM. Neonatal hyponatremia associated with congenital hypothyroidism. Clin Pediatr (Phila). 1997; 36:177–180. PMID: 9078421.
Article
3. Schutt-Aine JC. Hypothyroid myxedema and hyponatremia in an eight-year-old child: a case report. J Natl Med Assoc. 1980; 72:705–708. PMID: 7392090.
4. Agathis NT, Libman IM, Moritz ML. Hyponatremia due to severe primary hypothyroidism in an infant. Front Pediatr. 2015; 3:96. PMID: 26618147.
Article
5. Hanna FW, Scanlon MF. Hyponatraemia, hypothyroidism, and role of arginine-vasopressin. Lancet. 1997; 350:755–756. PMID: 9297992.
Article
6. Ota K, Kimura T, Sakurada T, Shoji M, Inoue M, Sato K, et al. Effects of an acute water load on plasma ANP and AVP, and renal water handling in hypothyroidism: comparison of before and after L-thyroxine treatment. Endocr J. 1994; 41:99–105. PMID: 7951559.
Article
7. Brown RS, Demmer LA. The etiology of thyroid dysgenesis-still an enigma after all these years. J Clin Endocrinol Metab. 2002; 87:4069–4071. PMID: 12213847.
Article
8. Korkmaz L, AkıZn MA, Güneş T, Daar G, Baştuğ O, Yıkılmaz A, et al. Unusual course of congenital hypothyroidism and route of the L-thyroxine treatment in a preterm newborn. J Clin Res Pediatr Endocrinol. 2014; 6:177–179. PMID: 25241613.
Article
9. Seth A, Aggarwal V, Maheshwari A. Hypothyroidism in children beyond 5 y of age: delayed diagnosis of congenital hypothyroidism. Indian J Pediatr. 2012; 79:891–895. PMID: 22237638.
Article
10. Skowsky WR, Kikuchi TA. The role of vasopressin in the impaired water excretion of myxedema. Am J Med. 1978; 64:613–621. PMID: 645727.
Article
11. Kimura T. Potential mechanisms of hypothyroidism-induced hyponatremia. Intern Med. 2000; 39:1002–1003. PMID: 11197779.
Article
12. Laczi F, Janáky T, Iványi T, Julesz J, László FA. Osmoregulation of arginine-8-vasopressin secretion in primary hypothyroidism and in Addison's disease. Acta Endocrinol (Copenh). 1987; 114:389–395. PMID: 3564840.
Article
13. Iwasaki Y, Oiso Y, Yamauchi K, Takatsuki K, Kondo K, Hasegawa H, et al. Osmoregulation of plasma vasopressin in myxedema. J Clin Endocrinol Metab. 1990; 70:534–539. PMID: 2298864.
Article
14. Koide Y, Oda K, Shimizu K, Shimizu A, Nabeshima I, Kimura S, et al. Hyponatremia without inappropriate secretion of vasopressin in a case of myxedema coma. Endocrinol Jpn. 1982; 29:363–368. PMID: 7173113.
Article
15. Park CW, Shin YS, Ahn SJ, Kim SY, Choi EJ, Chang YS, et al. Thyroxine treatment induces upregulation of renin-angiotensin-aldosterone system due to decreasing effective plasma volume in patients with primary myxoedema. Nephrol Dial Transplant. 2001; 16:1799–1806. PMID: 11522861.
Article
16. Munro DS, Renschler H, Wilson GM. Exchangeable potassium and sodium in hyperthyroidism and hypothyroidism. Metabolism. 1958; 7:124–132. PMID: 13516463.
17. Villabona C, Sahun M, Roca M, Mora J, Gómez N, Gómez JM, et al. Blood volumes and renal function in overt and subclinical primary hypothyroidism. Am J Med Sci. 1999; 318:277–280. PMID: 10522555.
Article
18. Nakhoul F, Thompson CB, McDonough AA. Developmental change in Na, K-ATPase alpha1 and beta1 expression in normal and hypothyroid rat renal cortex. Am J Nephrol. 2000; 20:225–231. PMID: 10878407.
Article
19. Kohno M, Takaori K, Matsuura T, Murakawa K, Kanayama Y, Takeda T. Atrial natriuretic polypeptide in atria and plasma in experimental hyperthyroidism and hypothyroidism. Biochem Biophys Res Commun. 1986; 134:178–183. PMID: 2936340.
Article
20. Ruiz M, Montiel M, Jimenez E, Morell M. Effect of thyroid hormones on angiotensinogen production in the rat in vivo and in vitro. J Endocrinol. 1987; 115:311–315. PMID: 3325607.
Article
Full Text Links
  • APEM
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2024 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr