#PAGE_PARAMS# #ADS_HEAD_SCRIPTS# #MICRODATA#

Resisance to thyroid hormones


Authors: Jan Jiskra;  Zdeňka Límanová
Authors‘ workplace: III. interní klinika 1. LF UK a VFN, Praha
Published in: Čas. Lék. čes. 2014; 153: 137-141
Category: Review Article

*Článek je věnován k 90. narozeninám prof. MUDr. Vratislava Schreibera, DrSc.

Overview

Resistance to thyroid hormones (RTH) is a rare disease with prevalence 1 :
40 000–50 000. About 85% of cases are caused by mutation of thyroid hormone receptor gene β (TRβ) and in 15% of cases the mutation cannot be detected (nonTR-RTH). Elevated thyroid hormone and non-suppressed TSH in the blood, goitre and variable other clinical symptoms are typical for the disease. Manifestation is often mild and many cases may be even without clinical symptomatology. Cardiac symptoms (mainly dysrhythmias) may be confused with symptoms of hyperthyroidism. Different tissue sensitivity to thyroid hormones causes contemporary presence of symptoms of hypo- and hyperthyroidism. Differential diagnosis of RTH includes more prevalent causes of elevated thyroid hormones with non-suppressed TSH as drugs, non-compliance, biochemical interference and TSH-secreting pituitary adenoma. The treatment of RTH is symptomatic and thyroidectomy should be avoided, if it is possible. Recently, thyroid hormone analogues (e.g. 3,5,3´-trijodothyroacetát) can be used to normalize of thyroid parameters, alleviate of symptoms and achieve goitre regression.

Keywords:
resistance to thyroid hormones – free thyroxin – thyroid stimulatory hormone – thyroid hormone analogues – TSH-secreting pituitary tumor


Sources

1. Refetoff S, DeWind LT, DeGroot LJ. Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone. J. Clin. Endocrinol. Metab 1967; 27(2): 279–294.

2. Lafranchi SH, Snyder DB, Sesser DE, Skeels MR, Singh N, Brent GA, Nelson JC. Follow-up of newborns with elevated screening T4 concentrations. J Pediatr 2003; 143: 296–301.

3. Gurnell M, Halsall DJ, Chatterjee VK. What should be done when thyroid function tests do not make sense? Clin Endocrinol (Oxf) 2011; 74(6): 673–678.

4. Hershman JM, Cheng SY, Gianoukakis AG. Update in thyroidology 2010. J Clin Endocrinol Metab 2011; 96(1): 9–14.

5. Běhanová M, Nedvídková J. Periferní účinky tyreoidálních hormonů. In: Stárka L, et al. Aktuální endokrinologie. Praha: Grada Publishing 1999; 283–295.

6. Takeda K, Sakurai A, DeGroot LJ, Refetoff S. Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta gene. J Clin Endocrinol Metab 1992; 74(1): 49–55.

7. Ferrara AM, Onigata K, Ercan O, Woodhead H, Weiss RE, Refetoff S.Homozygous thyroid hormone receptor β-gene mutations in resistance to thyroid hormone: three new cases and review of the literature. J Clin Endocrinol Metab 2012; 97(4): 1328–1336.

8. Slezak R, Lukienczuk T, Noczynska A, Karpinski P, Lebioda A, Misiak B,Sasiadek MM. A novel p.E311K mutation of thyroid receptor beta gene in resistence to thyroid hormone syndrome, inherited in autosomal recessive trait. Horm Metab Res 2012; 44(9): 704–707.

9. Weiss WR, Refetoff S. Resistance to Thyroid Hormone (RTH) in the Absence of Abnormal Thyroid Hormone Receptor (TR) (nonTR-RTH). Hot Thyroidol 2009a; 9: 1–11.

10. Moran C, Schoenmakers N, Agostini M, Schoenmakers E, Offiah A, Kydd A, Kahaly G, Mohr-Kahaly S, Rajanayagam O, Lyons G, Wareham N,Halsall D, Dattani M, Hughes S, Gurnell M, Park SM, Chatterjee K. An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor α. J Clin Endocrinol Metab 2013; 98(11): 4254–4261.

11. Kannan S, Safer JD. Finding the right balance between resistance and sensitivity: a review of the cardiac manifestations of the syndrome of resistence to thyroid hormone and the implications for treatment. Endocr Pract 2012; 18(2): 252–265.

12. Radetti G, Persani L, Molinaro G, Mannavola D, Cortelazzi D, Chatterjee VK, Beck-Peccoz P. Clinical and hormonal outcome after two years of triiodothyroacetic acid treatment in a child with thyroid hormone resistance. Thyroid 1997; 7(5): 775–778.

13. Anzai R, Adachi M, Sho N, Muroya K, Asakura Y, Onigata K. Long-term 3,5,3‘-triiodothyroacetic acid therapy in a child with hyperthyroidism caused by thyroid hormone resistance: pharmacological study and therapeutic recommendations. Thyroid 2012; 22(10): 1069–1075.

14. Weiss RE, Refetoff S. Treatment of resistance to thyroid hormone-primum non nocere. J Clin Endocrinol Metab 1999b; 84(2): 401–404.

15. Kahaly GJ, Metthews CH, Mohr-Kahaly S et al. Cardiac involvment in thyroid hormone resistance. J Clin Endocrinol Metab 2002; 87(1): 204–212.

Labels
Addictology Allergology and clinical immunology Angiology Audiology Clinical biochemistry Dermatology & STDs Paediatric gastroenterology Paediatric surgery Paediatric cardiology Paediatric neurology Paediatric ENT Paediatric psychiatry Paediatric rheumatology Diabetology Pharmacy Vascular surgery Pain management Dental Hygienist
Topics Journals
Login
Forgotten password

Enter the email address that you registered with. We will send you instructions on how to set a new password.

Login

Don‘t have an account?  Create new account

#ADS_BOTTOM_SCRIPTS#