RESUMEN
We report here a case of a paediatric hyperthyroidism due to a micro-macro-follicular thyroid adenoma in the presence of heterozygous point mutation of TSH receptor (TSHr). We describe the case from the initial diagnosis, through laboratoristic examinations and imaging techniques, until the radical surgical treatment made by a mini-cervicotomic videoassisted technique. We also explained the genetic work-up from peripheral blood and thyroid adenoma tissue.
Asunto(s)
Adenoma/cirugía , Hipertiroidismo/etiología , Receptores de Tirotropina/genética , Cirugía Torácica Asistida por Video/métodos , Neoplasias de la Tiroides/cirugía , Nódulo Tiroideo/congénito , Tiroidectomía/métodos , Adenoma/congénito , Adenoma/diagnóstico , Adenoma/tratamiento farmacológico , Adenoma/genética , Adenoma/metabolismo , Sustitución de Aminoácidos , Exones/genética , Terapia de Reemplazo de Hormonas , Humanos , Hiperplasia , Hipertiroidismo/congénito , Recién Nacido , Masculino , Metimazol/uso terapéutico , Mutación Missense , Neoplasias de la Tiroides/congénito , Neoplasias de la Tiroides/diagnóstico , Neoplasias de la Tiroides/tratamiento farmacológico , Neoplasias de la Tiroides/genética , Neoplasias de la Tiroides/metabolismo , Tiroxina/uso terapéuticoRESUMEN
Three patients with congenital goitrous hypothyroidism are reported. They were treated with adequate thyroxine replacement and developed well defined microfollicular thyroid adenomas despite being euthyroid clinically and biochemically throughout their clinical course. Patients with congenital goitrous hypothyroidism appear to be at increased risk of developing thyroid adenoma in childhood despite the use of replacement thyroxine treatment in physiological doses.
