open access
Resistance to thyroid hormone with a mutation of the thyroid β receptor gene in an eight-month-old infant — a case report


- Department of Paediatrics and Paediatric Endocrinology, School of Medicine in Katowice, Katowice, Poland
open access
Abstract
Abstract
Keywords
resistance to thyroid hormone; thyroid hormone receptor β; infant


Title
Resistance to thyroid hormone with a mutation of the thyroid β receptor gene in an eight-month-old infant — a case report
Journal
Issue
Article type
Case report
Pages
124-130
Published online
2018-10-30
Page views
2556
Article views/downloads
1206
DOI
10.5603/EP.a2018.0082
Pubmed
Bibliographic record
Endokrynol Pol 2019;70(1):124-130.
Keywords
resistance to thyroid hormone
thyroid hormone receptor β
infant
Authors
Elżbieta A. Foryś-Dworniczak
Carla Moran
Barbara Kalina-Faska
Ewa Małecka-Tendera
Agnieszka Zachurzok


- Refetoff S. Resistance to thyroid hormone with and without receptor gene mutations. Ann Endocrinol. (Paris). 2003; 64(1): 23–25.
- Agrawal NK, Goyal R, Rastogi A, et al. Thyroid hormone resistance. Postgrad Med J. 2008; 84(995): 473–477.
- Lafranchi SH, Snyder DB, Sesser DE, et al. Follow-up of newborns with elevated screening T4 concentrations. J Pediatr. 2003; 143(3): 296–301.
- Flamant F, Baxter JD, Forrest D. International Union of Pharmacology. LIX. The pharmacology and classification of the nuclear receptor superfamily: thyroid hormone receptors. Pharmacol Rev. 2006; 58(4): 705–711.
- Refetoff S, Dumitrescu AM. Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination. Best Pract Res Clin Endocrinol Metab. 2007; 21(2): 277–305.
- Pohlenz J, Weiss RE, Macchia PE. Five New Families with Resistance to Thyroid Hormone not Caused by Mutations in the Thyroid Hormone Receptor Gene. J Clin Endocrinol Metab. 1999; 84(11): 3919–3928.
- Bochukova E, Schoenmakers N, Agostini M, et al. A mutation in the thyroid hormone receptor alpha gene. N Engl J Med. 2012; 366(3): 243–249.
- Refetoff S. Resistance to thyroid hormone. In: Braverman LE, Utiger RE. ed. Werner and Ingbar’s The thyroid: a fundamental and clinical text. 9th ed. Lippincott, Williams and Wilkins, Philadelphia 2005: 1109–1129.
- Beck-Peccoz P, Chatterjee VK. The variable clinical phenotype in thyroid hormone resistance syndrome. Thyroid. 1994; 4(2): 225–232.
- Weiss RE, Refetoff S. Treatment of resistance to thyroid hormone — primum non nocere. J Clin Endocrinol Metab. 1999; 84(2): 401–404.
- Niklasson A, Albertsson-Wikland K. Continuous growth reference from 24th week of gestation to 24 months by gender. BMC Pediatr. 2008; 8(8).
- Niedźwiecka Z, Palczewska I. Wskaźniki rozwoju fizycznego w pierwszych trzech latach życia dzieci urodzonych przedwcześnie. Medycyna Wieku Rozwojowego. 1997; 1(supl. 1): 3–71.
- Palczewska I, Nieźwiecka Z. Wskaźniki rozwoju somatycznego dzieci i młodzieży warszawskiej. Medycyna Wieku Rozwojowego, 2001; 5. ; 52(supl. 1): 113–114.
- Onigata K, Yagi H, Sakurai A, et al. A novel point mutation (R243Q) in exon 7 of the c-erbA beta thyroid hormone receptor gene in a family with resistance to thyroid hormone. Thyroid. 1995; 5(5): 355–358.
- Onigata K, Szinnai G. Resistance to thyroid hormone. Endocr Dev. 2014; 26: 118–129.
- Yen PM. Molecular basis of resistance to thyroid hormone. Trends Endocrinol Metab. 2003; 14(7): 327–333.
- Mixson AJ, Hauser P, Tennyson G, et al. Differential expression of mutant and normal beta T3 receptor alleles in kindreds with generalized resistance to thyroid hormone. J Clin Invest. 1993; 91(5): 2296–2300.
- Frank-Raue K, Lorenz A, Haag C, et al. Severe form of thyroid hormone resistance in a patient with homozygous/hemizygous mutation of T3 receptor gene. Eur J Endocrinol. 2004; 150(6): 819–823.
- Ferrara AM, Onigata K, Ercan O, et al. 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.
- Canadas KT, Rivkees SA, Udelsman R, et al. Resistance to thyroid hormone associated with a novel mutation of the thyroid β receptor gene in a four-year-old female. Int J Pediatr Endocrinol. 2011; 2011(1): 3.
- Weiss RE. Management of patients with resistance to thyroid hormone. Thyroid Today. 1999; 12: 1–11.
- Yatsuga S, Hiromatsu Y, Sasaki S, et al. A two-day-old hyperthyroid neonate with thyroid hormone resistance born to a mother with well-controlled Graves' disease: a case report. J Med Case Rep. 2012; 6: 246.
- Weiss RE, Stein MA, Refetoff S. Behavioral effects of liothyronine (L-T3) in children with attention deficit hyperactivity disorder in the presence and absence of resistance to thyroid hormone. Thyroid. 1997; 7(3): 389–393.