Trastornos del desarrollo sexual en individuos 46,XX: una actualización

  • Mariana Guerra Pontificia Universidad Javeriana, Institute of Human Genetics, School of Medicine , Bogotá, Colombia http://orcid.org/0000-0002-3463-3565
  • Camila Céspedes School of Medicine, Pontificia Universidad Javeriana; Hospital Universitario San Ignacio http://orcid.org/0000-0002-7856-7213
  • Catalina Forero School of Medicine, Pontificia Universidad Javeriana; Hospital Universitario San Ignacio http://orcid.org/0000-0003-2241-7854
  • Fernando Suárez-Obando Pontificia Universidad Javeriana, Institute of Human Genetics, School of Medicine , Bogotá, Colombia http://orcid.org/0000-0001-6336-5347
  • Adriana Rojas Pontificia Universidad Javeriana, Institute of Human Genetics, School of Medicine , Bogotá, Colombia http://orcid.org/0000-0001-8528-4433
Palabras clave: 46,XX, trastorno del desarrollo sexual-TDS, trastornos del desarrollo gonadal (ovárico), FISH, SRY, SOX9

Resumen

Resumen

La interrupción de los procesos de determinación o diferenciación sexual por cualquier factor genético o ambiental puede resultar en un trastorno del desarrollo sexual (TDS) con discordancia entre el sexo cromosómico, gonadal y anatómico. Dicha discordancia tendrá diferentes expresiones en el fenotipo, incluidas anomalías en los genitales internos y/o genitales externos.

Material y métodos: Con la finalidad de actualizar conceptos relacionados con TDS con cariotipo 46,XX sin alteraciones numéricas o estructurales, se realizó una búsqueda de información de los últimos 10 años en los que se describen tres subcategorías: trastornos del desarrollo gonadal (ovárico), trastornos relacionados con el exceso androgénico y otras anomalías (atresia vaginal, extrofia cloacal, anomalías uterinas y adherencias labiales).

Conclusión: La gran variabilidad de las manifestaciones fenotípicas en este tipo de TDS puede crear confusión en los enfoques diagnósticos guiados por los hallazgos clínicos. Esta variabilidad de presentación, junto con la falta de conocimiento de la fisiopatología, puede contribuir a diagnósticos tardíos o no concluyentes. Por estas razones, profundizar en el conocimiento de las causas y manifestaciones clínicas redundará en el bienestar del paciente y su familia.

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Publicado
2021-09-29
Sección
Artículos de revisión