Author:
Canadas Karina T,Rivkees Scott A,Udelsman Robert,Breuer Christopher K
Abstract
Abstract
Resistance to thyroid hormone (RTH) is a rare syndrome of reduced responsiveness of target tissues to thyroid hormone and is caused mutation in the thyroid β receptor gene. We report a novel mutation, E445X, causing RTH in a 4-year old girl. The patient exhibited extreme signs and symptoms of RTH at an early age, and had a large compressive goiter. Following total extracapsular thyroidectomy, upper airway compression was relieved and symptoms of hyperthyroidism improved. This case appears to be the youngest child recorded to have undergone total thyroidectomy for RTH. Post-operative TSH elevations were managed with every-other-day triiodothyronine therapy.
Publisher
Springer Science and Business Media LLC
Reference13 articles.
1. Refetoff S: Resistance to thyroid hormone: one of several defects causing reduced sensitivity to thyroid hormone. Nat Clin Pract Endocrinol Metab. 2008, 4: 1-
2. Refetoff S: Resistance to thyroid hormone with and without receptor gene mutations. Ann Endocrinol (Paris). 2003, 64: 23-25.
3. 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. 10.1067/S0022-3476(03)00184-7.
4. Langer P: Minireview: discussion about the limit between normal thyroid goiter. Endocr Regul. 1999, 33: 39-45.
5. Anselmo J, Kay T, Dennis K, Szmulewitz R, Refetoff S, Weiss RE: Resistance to thyroid hormone does not abrogate the transient thyrotoxicosis associated with gestation: report of a case. J Clin Endocrinol Metab. 2001, 86: 4273-4275. 10.1210/jc.86.9.4273.
Cited by
11 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献