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Congenital hypothyroidism with neurological and respiratory alterations: A case detected using a variable diagnostic threshold for Tsh
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نویسنده
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barreiro j. ,alonso-fernández j.r. ,castro-feijoo l. ,colón c. ,cabanas p. ,heredia c. ,castaño l.a. ,gómez-lado c. ,luz couce m. ,pombo m.
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منبع
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journal of clinical research in pediatric endocrinology - 2011 - دوره : 3 - شماره : 4 - صفحه:208 -211
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چکیده
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We report a case of congenital hypothyroidism (ch) with neurological and respiratory alterations due to a heterozygotic c.374-1g > a mutation of titf1/nkx2-1. the hypothyroidism was detected using a neonatal screening protocol in which the thyroid stimulating hormone (tsh) threshold is re-set each day on the basis of within-day variability and between-day variation. in this case,the threshold on the day of the initial analysis was 8.2 miu/l,and the measured tsh level in heel-prick blood was 8.3 miu/l. © journal of clinical research in pediatric endocrinology,published by galenos publishing.
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کلیدواژه
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Congenital hypothyroidism; Neurological pathology; Newborn screening; Respiratory pathology; TITF1/NKX2-1gene; TSH cut-off
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آدرس
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hosp clínico/universidade de santiago,unidad de endocrinologia pediatrica,crecimiento y adolescencia pediatría, Spain, hosp clínico,universidade de santiago de compostela,lab metabolopatías pediatria, Spain, hosp clínico/universidade de santiago,unidad de endocrinologia pediatrica,crecimiento y adolescencia pediatría, Spain, hosp clínico,universidade de santiago de compostela,lab metabolopatías pediatria, Spain, hosp clínico/universidade de santiago,unidad de endocrinologia pediatrica,crecimiento y adolescencia pediatría, Spain, hosp clínico/universidade de santiago,unidad de endocrinologia pediatrica,crecimiento y adolescencia pediatría, Spain, hosp de cruces universidad del país vasco,grupo de investigación en endocrinología y diabetes,vizczya, Spain, hosp clínico,universidade de santiago de compostela,unidad de neuropediatria pediatría, Spain, hosp clínico,universidade de santiago de compostela,neonatología,pediatría, Spain, hosp clínico/universidade de santiago,unidad de endocrinologia pediatrica,crecimiento y adolescencia pediatría, Spain
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Authors
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