Resistencia generalizada a hormonas tiroideas de carácter familiar

Resistencia generalizada a hormonas tiroideas de carácter familiar

hyroid hormone resistance is a rare autosomal dominant disease associated, in more than 90% of cases, to mutations in the beta thyroid hormone receptor. We report a 23 years old male that consulted for a psychiatric condition. Clinically, the patient was euthyroid in spite of high total and free T4 and T3 concentrations, while TSH remained normal. Also, TSH showed a five fold increase under TRH stimulation. The mother and one of his brothers had the same pattern of abnormal serum thyroid hormones. We discuss the diagnostic considerations and the protocol to study this rare pathology (Rev Méd Chile 2004; 132: 1096-9)

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Main Authors: López M,José M, Jiménez M,Marcela, Campino J,Carmen
Format: Digital revista
Language:Spanish / Castilian
Published: Sociedad Médica de Santiago 2004
Online Access:http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872004000900011
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spelling oai:scielo:S0034-988720040009000112005-11-22Resistencia generalizada a hormonas tiroideas de carácter familiarLópez M,José MJiménez M,MarcelaCampino J,Carmen Receptors thyroid hormone Thyroid hormones Thyroid hormone resistance Thyronines Thyroxine hyroid hormone resistance is a rare autosomal dominant disease associated, in more than 90% of cases, to mutations in the beta thyroid hormone receptor. We report a 23 years old male that consulted for a psychiatric condition. Clinically, the patient was euthyroid in spite of high total and free T4 and T3 concentrations, while TSH remained normal. Also, TSH showed a five fold increase under TRH stimulation. The mother and one of his brothers had the same pattern of abnormal serum thyroid hormones. We discuss the diagnostic considerations and the protocol to study this rare pathology (Rev Méd Chile 2004; 132: 1096-9)info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.132 n.9 20042004-09-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872004000900011es10.4067/S0034-98872004000900011
institution SCIELO
collection OJS
country Chile
countrycode CL
component Revista
access En linea
databasecode rev-scielo-cl
tag revista
region America del Sur
libraryname SciELO
language Spanish / Castilian
format Digital
author López M,José M
Jiménez M,Marcela
Campino J,Carmen
spellingShingle López M,José M
Jiménez M,Marcela
Campino J,Carmen
Resistencia generalizada a hormonas tiroideas de carácter familiar
author_facet López M,José M
Jiménez M,Marcela
Campino J,Carmen
author_sort López M,José M
title Resistencia generalizada a hormonas tiroideas de carácter familiar
title_short Resistencia generalizada a hormonas tiroideas de carácter familiar
title_full Resistencia generalizada a hormonas tiroideas de carácter familiar
title_fullStr Resistencia generalizada a hormonas tiroideas de carácter familiar
title_full_unstemmed Resistencia generalizada a hormonas tiroideas de carácter familiar
title_sort resistencia generalizada a hormonas tiroideas de carácter familiar
description hyroid hormone resistance is a rare autosomal dominant disease associated, in more than 90% of cases, to mutations in the beta thyroid hormone receptor. We report a 23 years old male that consulted for a psychiatric condition. Clinically, the patient was euthyroid in spite of high total and free T4 and T3 concentrations, while TSH remained normal. Also, TSH showed a five fold increase under TRH stimulation. The mother and one of his brothers had the same pattern of abnormal serum thyroid hormones. We discuss the diagnostic considerations and the protocol to study this rare pathology (Rev Méd Chile 2004; 132: 1096-9)
publisher Sociedad Médica de Santiago
publishDate 2004
url http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872004000900011
work_keys_str_mv AT lopezmjosem resistenciageneralizadaahormonastiroideasdecaracterfamiliar
AT jimenezmmarcela resistenciageneralizadaahormonastiroideasdecaracterfamiliar
AT campinojcarmen resistenciageneralizadaahormonastiroideasdecaracterfamiliar
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