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Organo Oficial de la Sociedad Mexicana de Urología

2022, Número 4

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Rev Mex Urol 2022; 82 (4)


Trastornos del desarrollo sexual asociados a los cromosomas sexuales: Una actualización

Santamaria-Durán N, Suárez-Obando F, Rojas-Moreno A

Idioma: Español
Referencias bibliográficas: 84
Paginas:
Archivo PDF: 404.90 Kb.


RESUMEN

Descripción: los trastornos del desarrollo sexual (DSD, disorders of sex development) son condiciones congénitas que se caracterizan por la discordancia entre la apariencia externa (masculinidad o feminidad) y la constitución cromosómica o sexo gonadal. Estas manifestaciones están relacionadas con alteraciones a nivel del desarrollo gonadal y del tracto urinario-genital e incluso del sistema reproductivo-endocrino. Dentro de las causas de estas se encuentran las genéticas, las cuales son provocadas por anomalías cromosómicas, en particular de los cromoso- mas sexuales, o por alteración de genes involucrados con el desarrollo embrionario de los órganos sexuales; como también, anomalías que generen la interrupción de la síntesis de hormonas específicas.
Relevancia: en el grupo de trastornos del desarrollo sexual ligado a alteraciones en el número de cromosomas se encuentran el síndrome de Klinefelter (47,XXY) (SK) y el síndrome de Turner (45,X) (ST). Reportes en la literatura mencionan que las aneuploidias de los cromo- somas sexuales impactan directamente en los genes, factores transcrip- cionales y mecanismos epigenéticos que afectan la expresión génica.
Conclusiones: en la literatura, son escasos los estudios moleculares comparativos entre pacientes con síndrome de Turner (ST) o Klinefel- ter (SK), siendo estos fundamentales para comprender los procesos gé- nicos que están relacionados con el desarrollo de las patologías de estos pacientes, y así contribuir al mejoramiento del diagnóstico, tratamiento y asesoría médica del paciente con ST ó SK, impactando directamente en la calidad de vida de estos. En este artículo se presenta una revisión bibliográfica actualizada de los trastornos del desarrollo sexual asocia- dos a los cromosomas sexuales, específicamente del ST y SK.


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