Síndrome de Prader-Willi. Tratamiento con hormona de crecimiento en dos casos: Report of two cases

Prader-Willi syndrome (PWS) is a neurogenetic disorder caused by the absence or abnormal inactivation of a critical region of the paternal chromosome 15. Clinical manifestations include marked hypotonia at birth, progressive obesity that starts during the second year of life, stunting, hypogonadism...

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Autor principal:	Youlton R,Ronald
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2001
Materias:	Chromosome Abnormalities Genetics Medical Prader-Willi Syndrome Somatotropin
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872001001000012
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spelling	oai:scielo:S0034-988720010010000122005-11-14Síndrome de Prader-Willi. Tratamiento con hormona de crecimiento en dos casos: Report of two casesYoulton R,Ronald Chromosome Abnormalities Genetics Medical Prader-Willi Syndrome Somatotropin Prader-Willi syndrome (PWS) is a neurogenetic disorder caused by the absence or abnormal inactivation of a critical region of the paternal chromosome 15. Clinical manifestations include marked hypotonia at birth, progressive obesity that starts during the second year of life, stunting, hypogonadism and some dysmorphic features. Some of the symptoms and signs can be explained by growth hormone (GH) deficiency. We report two females aged 12 and 13 years old with PWS. Both were very short and obese, showed blunted GH responses to provocative stimuli and had low plasma levels of Insulin Growth Factor-1 (IGF-1). They have been on GH treatment for more than two years, demonstrating a marked growth acceleration, reduction in their fat mass, improvement of their muscular strength and an increase in their IGF-1 levels (Rev Méd Chile 2001; 129: 1186-90info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.129 n.10 20012001-10-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872001001000012es10.4067/S0034-98872001001000012
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Chromosome Abnormalities Genetics Medical Prader-Willi Syndrome Somatotropin
spellingShingle	Chromosome Abnormalities Genetics Medical Prader-Willi Syndrome Somatotropin Youlton R,Ronald Síndrome de Prader-Willi. Tratamiento con hormona de crecimiento en dos casos: Report of two cases
description	Prader-Willi syndrome (PWS) is a neurogenetic disorder caused by the absence or abnormal inactivation of a critical region of the paternal chromosome 15. Clinical manifestations include marked hypotonia at birth, progressive obesity that starts during the second year of life, stunting, hypogonadism and some dysmorphic features. Some of the symptoms and signs can be explained by growth hormone (GH) deficiency. We report two females aged 12 and 13 years old with PWS. Both were very short and obese, showed blunted GH responses to provocative stimuli and had low plasma levels of Insulin Growth Factor-1 (IGF-1). They have been on GH treatment for more than two years, demonstrating a marked growth acceleration, reduction in their fat mass, improvement of their muscular strength and an increase in their IGF-1 levels (Rev Méd Chile 2001; 129: 1186-90
author	Youlton R,Ronald
author_facet	Youlton R,Ronald
author_sort	Youlton R,Ronald
title	Síndrome de Prader-Willi. Tratamiento con hormona de crecimiento en dos casos: Report of two cases
title_short	Síndrome de Prader-Willi. Tratamiento con hormona de crecimiento en dos casos: Report of two cases
title_full	Síndrome de Prader-Willi. Tratamiento con hormona de crecimiento en dos casos: Report of two cases
title_fullStr	Síndrome de Prader-Willi. Tratamiento con hormona de crecimiento en dos casos: Report of two cases
title_full_unstemmed	Síndrome de Prader-Willi. Tratamiento con hormona de crecimiento en dos casos: Report of two cases
title_sort	síndrome de prader-willi. tratamiento con hormona de crecimiento en dos casos: report of two cases
publisher	Sociedad Médica de Santiago
publishDate	2001
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872001001000012
work_keys_str_mv	AT youltonrronald sindromedepraderwillitratamientoconhormonadecrecimientoendoscasosreportoftwocases
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Síndrome de Prader-Willi. Tratamiento con hormona de crecimiento en dos casos: Report of two cases

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