Медицинская литература. Новинки

 

 

 

 

 

 

Синдром резистентности к тиреотропному гормону: описание семейного случаяиндром резистентности к тиреотропному гормону: описание семейного случая

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В статье представлены результаты 5-летнего наблюдения двух сестер-близнецов с субклиническим первичным гипотиреозом, у которых по данным молекулярно-генетического обследования выявлена гомозиготная мутация в гене рецептора ТТГ (p.R450H). Обсуждаются показания к заместительной терапии левотироксином.

Ключевые слова:
субклинический гипотиреоз, резистентность к ТТГ, ген рецептора ТТГ, дети, subclinical hypothyroidism, resistance to thyrotropin, TSHR, children

Литература:
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Resistance to thyrotropin: familial case report

Two female dizygotic twins with subclinical primary hypothyroidism due to homozygous p.R450H mutation in TSHR gene are presented. A 5-year follow-up in both cases showed no progression of thyroid dysfunction. Indications for levothyroxine replacement in subclinical hypothyroidism are discussed.

Keywords:
субклинический гипотиреоз, резистентность к ТТГ, ген рецептора ТТГ, дети, subclinical hypothyroidism, resistance to thyrotropin, TSHR, children