Descubrieron en un niño con deficiencia severa de hormona tiroidea que presentaba formas mutadas de sus dos copias del gen conocido como tiroideoxidasa 2 (THOX2). Posteriormente, encontraron que otros 3 de un grupo de 8 pacientes con formas leves y transitorias del trastorno eran portadores de una copia mutada del gen.
Así, los autores concluyen que han hallado una nueva causa de hipotiroidismo congénito.
Webs Relacionadas
http://content.nejm.org
Universidad de Amsterdam
http://www.uva.nl/
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Publicado el 21 de julio de 2002
Hipotoroidismo congénito
Nueva causa del hipotiroidismo congénito
Una alteración en un gen implicado en la síntesis de la hormona tiroidea puede explicar algunos casos de hipotiroidismo hereditario, según escriben investigadores de la Universidad de Ámsterdam en el último número de "The New England Journal of Medicine".
Fuente:
Descubrieron en un niño con deficiencia severa de hormona tiroidea que presentaba formas mutadas de sus dos copias del gen conocido como tiroideoxidasa 2 (THOX2). Posteriormente, encontraron que otros 3 de un grupo de 8 pacientes con formas leves y transitorias del trastorno eran portadores de una copia mutada del gen.
Así, los autores concluyen que han hallado una nueva causa de hipotiroidismo congénito.
Webs Relacionadas
http://content.nejm.org
Universidad de Amsterdam
http://www.uva.nl/