A Case of Thyroid Hormone Resistance (RTH) / 대한소아내분비학회지
Journal of Korean Society of Pediatric Endocrinology
;
: 100-104, 2005.
Artículo
en Coreano
| WPRIM
| ID: wpr-84637
ABSTRACT
Thyroid hormone resistance (RTH) is a rare autosomal dominant disease characterized by reduced tissue sensitivity to thyroid hormone. Approximately 90% of subjects with RTH have mutation in the thyroid hormone receptor beta (TRbeta) gene. Approximately 10% of subjects diagnosed as having RTH do not carry mutation in the TRbeta gene. We report a 12-year-old male. The patient was euthyroid in spite of high total and free T4 and T3 concentrations, while TSH is slightly increased. TSH response to TRH stimulation was normal, and TSH values to TRH stimulation after T3 suppression revealed partial response. Sequence analysis of TRbeta gene showed no mutation. We report a case of RTH without mutations in the TRbeta gene.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Glándula Tiroides
/
Análisis de Secuencia
/
Síndrome de Resistencia a Hormonas Tiroideas
/
Receptores beta de Hormona Tiroidea
Límite:
Niño
/
Humanos
/
Masculino
Idioma:
Coreano
Revista:
Journal of Korean Society of Pediatric Endocrinology
Año:
2005
Tipo del documento:
Artículo
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