Klinefelter syndrome: a comprehensive review beyond the 47 XXY karyotype

Klinefelter syndrome is a pathological condition caused by a chromosomal aberration in males, resulting in the most common alteration of sex chromosomes in humans, characterized by a karyotype of 47 XXY. Its prevalence ranges from 85 to 250 cases per 100,000 live births annually. The absence of clin...

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Tipo de recurso:: Article of journal

Fecha de publicación:: 2023

Institución:: Universidad Antonio Nariño

Repositorio:: Repositorio UAN

Idioma:: spa

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spelling	2023-06-062024-10-10T02:55:20Z2024-10-10T02:55:20Zhttps://revistas.uan.edu.co/index.php/saywa/article/view/158810.54104/saywa.v4n5.1588https://repositorio.uan.edu.co/handle/123456789/11143Klinefelter syndrome is a pathological condition caused by a chromosomal aberration in males, resulting in the most common alteration of sex chromosomes in humans, characterized by a karyotype of 47 XXY. Its prevalence ranges from 85 to 250 cases per 100,000 live births annually. The absence of clinical signs during early decades of life often leads to a delayed diagnosis, which is associated with metabolic, vascular, and hormonal alterations that negatively impact individuals with this condition. Due to the high prevalence and underdiagnosis of Klinefelter syndrome, it is crucial to understand the genetic and epigenetic processes underlying the disease's development and recognize the accompanying clinical signs. A systematic review of literature was conducted in major medical research databases to achieve this objective. After applying inclusion criteria, 50 relevant articles were analyzed and consolidated to create an updated document. This comprehensive review serves as an important guide for understanding and approaching patients with Klinefelter syndrome, based on scientific evidence. By enhancing awareness and knowledge about this complex medical condition, healthcare professionals can improve early diagnosis, intervention, and management strategies for individuals affected by Klinefelter syndrome.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.application/pdfspaUNIVERSIDAD ANTONIO NARIÑOhttps://revistas.uan.edu.co/index.php/saywa/article/view/1588/1194Derechos de autor 2022 Diana Katerine Guevara Márquez, Germán Augusto Méndez Garcíahttps://creativecommons.org/licenses/by-nc-sa/4.0http://purl.org/coar/access_right/c_abf2REVISTA SAYWA; Vol. 4 Núm. 5 (2022); 27-462744-85762711-157110.54104/saywa.v4n5Síndrome de Klinefelter (KS)aberración cromosómicaCariotipo 47XXYrevisión sistemáticachromosomal aberrationKaryotype 47XXYsystematic review.Klinefelter syndrome (KS)Klinefelter syndrome (KS)Klinefelter syndrome: a comprehensive review beyond the 47 XXY karyotypeSíndrome de Klinefelter: una revisión integral más allá del cariotipo 47 XXYinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionDivulgación científicahttp://purl.org/coar/resource_type/c_6501http://purl.org/coar/resource_type/c_2df8fbb1http://purl.org/coar/version/c_970fb48d4fbd8a85Guevara Márquez, Diana KaterineMéndez García, Germán Augusto123456789/11143oai:repositorio.uan.edu.co:123456789/111432024-10-14 03:49:34.624metadata.onlyhttps://repositorio.uan.edu.coRepositorio Institucional UANalertas.repositorio@uan.edu.co
dc.title.en-US.fl_str_mv	Klinefelter syndrome: a comprehensive review beyond the 47 XXY karyotype
dc.title.es-ES.fl_str_mv	Síndrome de Klinefelter: una revisión integral más allá del cariotipo 47 XXY
title	Klinefelter syndrome: a comprehensive review beyond the 47 XXY karyotype
spellingShingle	Klinefelter syndrome: a comprehensive review beyond the 47 XXY karyotype Síndrome de Klinefelter (KS) aberración cromosómica Cariotipo 47XXY revisión sistemática chromosomal aberration Karyotype 47XXY systematic review. Klinefelter syndrome (KS) Klinefelter syndrome (KS)
title_short	Klinefelter syndrome: a comprehensive review beyond the 47 XXY karyotype
title_full	Klinefelter syndrome: a comprehensive review beyond the 47 XXY karyotype
title_fullStr	Klinefelter syndrome: a comprehensive review beyond the 47 XXY karyotype
title_full_unstemmed	Klinefelter syndrome: a comprehensive review beyond the 47 XXY karyotype
title_sort	Klinefelter syndrome: a comprehensive review beyond the 47 XXY karyotype
dc.subject.es-ES.fl_str_mv	Síndrome de Klinefelter (KS) aberración cromosómica Cariotipo 47XXY revisión sistemática
topic	Síndrome de Klinefelter (KS) aberración cromosómica Cariotipo 47XXY revisión sistemática chromosomal aberration Karyotype 47XXY systematic review. Klinefelter syndrome (KS) Klinefelter syndrome (KS)
dc.subject.en-US.fl_str_mv	chromosomal aberration Karyotype 47XXY systematic review. Klinefelter syndrome (KS) Klinefelter syndrome (KS)
description	Klinefelter syndrome is a pathological condition caused by a chromosomal aberration in males, resulting in the most common alteration of sex chromosomes in humans, characterized by a karyotype of 47 XXY. Its prevalence ranges from 85 to 250 cases per 100,000 live births annually. The absence of clinical signs during early decades of life often leads to a delayed diagnosis, which is associated with metabolic, vascular, and hormonal alterations that negatively impact individuals with this condition. Due to the high prevalence and underdiagnosis of Klinefelter syndrome, it is crucial to understand the genetic and epigenetic processes underlying the disease's development and recognize the accompanying clinical signs. A systematic review of literature was conducted in major medical research databases to achieve this objective. After applying inclusion criteria, 50 relevant articles were analyzed and consolidated to create an updated document. This comprehensive review serves as an important guide for understanding and approaching patients with Klinefelter syndrome, based on scientific evidence. By enhancing awareness and knowledge about this complex medical condition, healthcare professionals can improve early diagnosis, intervention, and management strategies for individuals affected by Klinefelter syndrome.
publishDate	2023
dc.date.accessioned.none.fl_str_mv	2024-10-10T02:55:20Z
dc.date.available.none.fl_str_mv	2024-10-10T02:55:20Z
dc.date.none.fl_str_mv	2023-06-06
dc.type.none.fl_str_mv	info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion
dc.type.es-ES.fl_str_mv	Divulgación científica
dc.type.coar.fl_str_mv	http://purl.org/coar/resource_type/c_2df8fbb1
dc.type.coar.spa.fl_str_mv	http://purl.org/coar/resource_type/c_6501
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format	http://purl.org/coar/resource_type/c_6501
status_str	publishedVersion
dc.identifier.none.fl_str_mv	https://revistas.uan.edu.co/index.php/saywa/article/view/1588 10.54104/saywa.v4n5.1588
dc.identifier.uri.none.fl_str_mv	https://repositorio.uan.edu.co/handle/123456789/11143
url	https://revistas.uan.edu.co/index.php/saywa/article/view/1588 https://repositorio.uan.edu.co/handle/123456789/11143
identifier_str_mv	10.54104/saywa.v4n5.1588
dc.language.none.fl_str_mv	spa
language	spa
dc.relation.none.fl_str_mv	https://revistas.uan.edu.co/index.php/saywa/article/view/1588/1194
dc.rights.es-ES.fl_str_mv	Derechos de autor 2022 Diana Katerine Guevara Márquez, Germán Augusto Méndez García https://creativecommons.org/licenses/by-nc-sa/4.0
dc.rights.coar.spa.fl_str_mv	http://purl.org/coar/access_right/c_abf2
rights_invalid_str_mv	Derechos de autor 2022 Diana Katerine Guevara Márquez, Germán Augusto Méndez García https://creativecommons.org/licenses/by-nc-sa/4.0 http://purl.org/coar/access_right/c_abf2
dc.format.none.fl_str_mv	application/pdf
dc.publisher.es-ES.fl_str_mv	UNIVERSIDAD ANTONIO NARIÑO
dc.source.es-ES.fl_str_mv	REVISTA SAYWA; Vol. 4 Núm. 5 (2022); 27-46
dc.source.none.fl_str_mv	2744-8576 2711-1571 10.54104/saywa.v4n5
institution	Universidad Antonio Nariño
repository.name.fl_str_mv	Repositorio Institucional UAN
repository.mail.fl_str_mv	alertas.repositorio@uan.edu.co
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Klinefelter syndrome: a comprehensive review beyond the 47 XXY karyotype

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