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Revista médica de Chile

versión impresa ISSN 0034-9887

Resumen

YOULTON R, Ronald. Use of growth hormone in Prader-Willi syndrome. Rev. méd. Chile [online]. 2001, vol.129, n.10, pp. 1186-1190. ISSN 0034-9887.  http://dx.doi.org/10.4067/S0034-98872001001000012.

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

Palabras llave : Chromosome Abnormalities; Genetics Medical Prader-Willi Syndrome; Somatotropin.

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