Resistencia a hormonas tiroideas no asociada a mutación de la isoforma beta del receptor de hormonas tiroideas: caso clínico / Thyroid hormone resistance not associated to mutation on the beta isoform of the thyroid hormone receptor: report of one case
Rev. chil. endocrinol. diabetes
; 4(3): 194-197, jul. 2011. ilus, tab, graf
Article
em Es
| LILACS
| ID: lil-640638
Biblioteca responsável:
CL1.1
ABSTRACT
Thyroid hormone resistance (RTH) is inherited as an autosomal dominant trait, with variable clinical presentations. The hallmark of the syndrome is a variable degree of resistance to thyroid hormones, with high levels of circulating thyroid hormones, inappropriately normal or elevated TSH values and a clinical pattern of mixed hypothyroidism and hyperthyroidism. RTH is related in more than 85 percent of cases to thyroid hormone beta receptor mutations. We report a 11 years female with a history of treatment with propylthiouracil (PTU) for hyperthyroidism, presenting with a progressive goiter. Thyroidectomy was performed, removing 233 grams of thyroid tissue showing follicular hyperplasia. After surgery, a fast growth of the remnant thyroid gland was observed along with tachycardia. Laboratory showed a TSH of 38 mU/mL a triiodothyronine level of 300 ng/dL a thyroxin level of 14.8 ug/dL and a free thyroxin of 3.19 ng/dL, suggesting the diagnosis of RTH. The molecular study was negative for mutation of the beta isoform of thyroid hormone receptor. The possible theories that can explain these findings are discussed.
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Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Tiroxina
/
Síndrome da Resistência aos Hormônios Tireóideos
/
Hipertireoidismo
Tipo de estudo:
Etiology_studies
/
Risk_factors_studies
Limite:
Child
/
Female
/
Humans
Idioma:
Es
Revista:
Rev. chil. endocrinol. diabetes
Assunto da revista:
ENDOCRINOLOGIA
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Chile