RESUMEN
The anatomical location of the thyroid gland and its hormone byosinthesis are regulated by the expression of certain genes, whose disruption leads to the so-called thyroid dysgenesis: agenesis, ectopia and hypoplasia, and to dyshormonogenesis. We present the case of a patient with mental retardation and hypothyroidism whose diagnosis was made in adulthood. Biochemical determinations confirmed the diagnosis without evidence of thyroid autoimmunity. This patient represents the extended evolution of a thyroid hypofunction, which lasted in an unsuspected way for 53 years, with important consequences of this deficiency at diagnosis. Exogenous therapy achieved great improvement in clinical symptoms, but did not reverse the neurological damage attributable to the lack of thyroid hormone necessary for fetal development. The necropsy revealed little thyroid tissue in the neck corresponding to eutopic thyroid hypoplasia. The discovery of a remaining thyroid of less than 1 cm justified the patient survival up to old age.
Asunto(s)
Hipotiroidismo Congénito/etiología , Disgenesias Tiroideas/complicaciones , Anciano , Hipotiroidismo Congénito/tratamiento farmacológico , Hipotiroidismo Congénito/patología , Diagnóstico Tardío , Resultado Fatal , Femenino , Humanos , Discapacidad Intelectual/etiología , Disgenesias Tiroideas/tratamiento farmacológico , Disgenesias Tiroideas/patología , Tiroxina/uso terapéuticoRESUMEN
La ubicación anatómica de la glándula tiroidea y su biosíntesis hormonal están reguladas por la expresión de ciertos genes, cuya alteración puede conducir a las denominadas disgenesias tiroideas: agenesia, ectopía e hipoplasia, así como a las variantes dishormonogenéticas. Se presenta el caso de una paciente con retraso mental y diagnóstico de hipotiroidismo realizado en la edad adulta. Las determinaciones bioquímicas confirmaron el diagnóstico de hipotiroidismo no autoinmune. Este caso representa la evolución prolongada de una hipofunción tiroidea, que cursó en forma solapada y no diagnosticada durante 53 años de vida, con secuelas relevantes de esta deficiencia al momento del diagnóstico. La terapia exógena logró mejorías evidentes en la signo sintomatología, pero no revirtió el presunto daño neurológico atribuible a la falta de hormona tiroidea necesaria durante el desarrollo fetal. En la necropsia realizada se encontró escaso tejido tiroideo cervical correspondiente a hipoplasia tiroidea eutópica. El hallazgo de un remanente tiroideo menor a 1 cm permite explicar la supervivencia de la paciente hasta una edad avanzada.
The anatomical location of the thyroid gland and its hormone byosinthesis are regulated by the expression of certain genes, whose disruption leads to the so-called thyroid dysgenesis: agenesis, ectopia and hypoplasia, and to dyshormonogenesis. We present the case of a patient with mental retardation and hypothyroidism whose diagnosis was made in adulthood. Biochemical determinations confirmed the diagnosis without evidence of thyroid autoimmunity. This patient represents the extended evolution of a thyroid hypofunction, which lasted in an unsuspected way for 53 years, with important consequences of this deficiency at diagnosis. Exogenous therapy achieved great improvement in clinical symptoms, but did not reverse the neurological damage attributable to the lack of thyroid hormone necessary for fetal development. The necropsy revealed little thyroid tissue in the neck corresponding to eutopic thyroid hypoplasia. The discovery of a remaining thyroid of less than 1 cm justified the patient survival up to old age.
Asunto(s)
Anciano , Femenino , Humanos , Hipotiroidismo Congénito/etiología , Disgenesias Tiroideas/complicaciones , Hipotiroidismo Congénito/tratamiento farmacológico , Hipotiroidismo Congénito/patología , Diagnóstico Tardío , Resultado Fatal , Discapacidad Intelectual/etiología , Disgenesias Tiroideas/tratamiento farmacológico , Disgenesias Tiroideas/patología , Tiroxina/uso terapéuticoRESUMEN
La ubicación anatómica de la glándula tiroidea y su biosíntesis hormonal están reguladas por la expresión de ciertos genes, cuya alteración puede conducir a las denominadas disgenesias tiroideas: agenesia, ectopía e hipoplasia, así como a las variantes dishormonogenéticas. Se presenta el caso de una paciente con retraso mental y diagnóstico de hipotiroidismo realizado en la edad adulta. Las determinaciones bioquímicas confirmaron el diagnóstico de hipotiroidismo no autoinmune. Este caso representa la evolución prolongada de una hipofunción tiroidea, que cursó en forma solapada y no diagnosticada durante 53 años de vida, con secuelas relevantes de esta deficiencia al momento del diagnóstico. La terapia exógena logró mejorías evidentes en la signo sintomatología, pero no revirtió el presunto daño neurológico atribuible a la falta de hormona tiroidea necesaria durante el desarrollo fetal. En la necropsia realizada se encontró escaso tejido tiroideo cervical correspondiente a hipoplasia tiroidea eutópica. El hallazgo de un remanente tiroideo menor a 1 cm permite explicar la supervivencia de la paciente hasta una edad avanzada.(AU)
The anatomical location of the thyroid gland and its hormone byosinthesis are regulated by the expression of certain genes, whose disruption leads to the so-called thyroid dysgenesis: agenesis, ectopia and hypoplasia, and to dyshormonogenesis. We present the case of a patient with mental retardation and hypothyroidism whose diagnosis was made in adulthood. Biochemical determinations confirmed the diagnosis without evidence of thyroid autoimmunity. This patient represents the extended evolution of a thyroid hypofunction, which lasted in an unsuspected way for 53 years, with important consequences of this deficiency at diagnosis. Exogenous therapy achieved great improvement in clinical symptoms, but did not reverse the neurological damage attributable to the lack of thyroid hormone necessary for fetal development. The necropsy revealed little thyroid tissue in the neck corresponding to eutopic thyroid hypoplasia. The discovery of a remaining thyroid of less than 1 cm justified the patient survival up to old age.(AU)
Asunto(s)
Anciano , Femenino , Humanos , Hipotiroidismo Congénito/etiología , Disgenesias Tiroideas/complicaciones , Hipotiroidismo Congénito/tratamiento farmacológico , Hipotiroidismo Congénito/patología , Diagnóstico Tardío , Resultado Fatal , Discapacidad Intelectual/etiología , Disgenesias Tiroideas/tratamiento farmacológico , Disgenesias Tiroideas/patología , Tiroxina/uso terapéuticoRESUMEN
The anatomical location of the thyroid gland and its hormone byosinthesis are regulated by the expression of certain genes, whose disruption leads to the so-called thyroid dysgenesis: agenesis, ectopia and hypoplasia, and to dyshormonogenesis. We present the case of a patient with mental retardation and hypothyroidism whose diagnosis was made in adulthood. Biochemical determinations confirmed the diagnosis without evidence of thyroid autoimmunity. This patient represents the extended evolution of a thyroid hypofunction, which lasted in an unsuspected way for 53 years, with important consequences of this deficiency at diagnosis. Exogenous therapy achieved great improvement in clinical symptoms, but did not reverse the neurological damage attributable to the lack of thyroid hormone necessary for fetal development. The necropsy revealed little thyroid tissue in the neck corresponding to eutopic thyroid hypoplasia. The discovery of a remaining thyroid of less than 1 cm justified the patient survival up to old age.