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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UNIVERSIDAD ANTONIO NARIÑO
2023
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| Online Access: | https://revistas.uan.edu.co/index.php/saywa/article/view/1588 https://repositorio.uan.edu.co/handle/123456789/11143 |
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| author | Guevara Márquez, Diana Katerine Méndez García, Germán Augusto |
| author_facet | Guevara Márquez, Diana Katerine Méndez García, Germán Augusto |
| author_sort | Guevara Márquez, Diana Katerine |
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| 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. |
| format | info:eu-repo/semantics/article |
| id | repositorio.uan.edu.co-123456789-11143 |
| institution | Repositorio Digital UAN |
| language | spa |
| publishDate | 2023 |
| publisher | UNIVERSIDAD ANTONIO NARIÑO |
| record_format | dspace |
| spelling | repositorio.uan.edu.co-123456789-111432024-10-14T03:49:34Z Klinefelter syndrome: a comprehensive review beyond the 47 XXY karyotype Síndrome de Klinefelter: una revisión integral más allá del cariotipo 47 XXY Guevara Márquez, Diana Katerine Méndez García, Germán Augusto Síndrome de Klinefelter (KS) aberración cromosómica Cariotipo 47XXY revisión sistemática chromosomal aberration Karyotype 47XXY systematic review. Klinefelter syndrome (KS) Klinefelter syndrome (KS) 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. 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. 2023-06-06 2024-10-10T02:55:20Z 2024-10-10T02:55:20Z info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Divulgación científica http://purl.org/coar/resource_type/c_6501 http://purl.org/coar/version/c_970fb48d4fbd8a85 https://revistas.uan.edu.co/index.php/saywa/article/view/1588 10.54104/saywa.v4n5.1588 https://repositorio.uan.edu.co/handle/123456789/11143 spa https://revistas.uan.edu.co/index.php/saywa/article/view/1588/1194 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 application/pdf UNIVERSIDAD ANTONIO NARIÑO REVISTA SAYWA; Vol. 4 Núm. 5 (2022); 27-46 2744-8576 2711-1571 10.54104/saywa.v4n5 |
| spellingShingle | Síndrome de Klinefelter (KS) aberración cromosómica Cariotipo 47XXY revisión sistemática chromosomal aberration Karyotype 47XXY systematic review. Klinefelter syndrome (KS) Klinefelter syndrome (KS) Guevara Márquez, Diana Katerine Méndez García, Germán Augusto Klinefelter syndrome: a comprehensive review beyond the 47 XXY karyotype |
| title | 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_short | Klinefelter syndrome: a comprehensive review beyond the 47 XXY karyotype |
| title_sort | klinefelter syndrome a comprehensive review beyond the 47 xxy karyotype |
| topic | Síndrome de Klinefelter (KS) aberración cromosómica Cariotipo 47XXY revisión sistemática chromosomal aberration Karyotype 47XXY systematic review. Klinefelter syndrome (KS) Klinefelter syndrome (KS) |
| url | https://revistas.uan.edu.co/index.php/saywa/article/view/1588 https://repositorio.uan.edu.co/handle/123456789/11143 |
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