Síndrome de Klinefelter: una revisión integral más allá del cariotipo 47 XXY
DOI:
https://doi.org/10.54104/saywa.v4n5.1588Palabras clave:
Síndrome de Klinefelter (KS), aberración cromosómica, Cariotipo 47XXY, revisión sistemáticaResumen
El síndrome de Klinefelter se define como una condición patológica cuya etiología responde a una aberración cromosómica en el varón cuyo cariotipo característico es el 47 XXY. Con una prevalencia anual entre los 85 y 250 por 100.000 nacidos vivos se considera la patología cromosómica más frecuente. La ausencia de signos clínicos en las primeras décadas de la vida lleva a un diagnóstico tardío asociado a alteraciones metabólicas, vasculares y sobretodo hormonales que impactan de manera negativa en quien padece la condición. En respuesta al infra diagnóstico de esta condición médica se evidencia la necesidad de conocer los procesos genéticos y epigenéticos que explican la aparición de la enfermedad; en aras de cumplir dicho objetivo se realizó una revisión sistemática de la literatura en las principales bases de datos en investigación médica, tras aplicar los criterios de inclusión del material bibliográfico obtenido se filtraron 50 artículos cuyo análisis y consolidación conduce a la elaboración de un documento actualizado y que en virtud de la evidencia científica representa una guía importante en la compresión y abordaje de pacientes con síndrome de Klinefelter.
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Derechos de autor 2022 Diana Katerine Guevara Márquez, Germán Augusto Méndez García
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