Insuficiencia ovarica primaria

INSUFICIENCIA OVÁRICA

¿Qué es la insuficiencia ovárica?

La insuficiencia ovárica primaria (IOP), también conocida como falla ovárica prematura, ocurre cuando los ovarios de una mujer dejan de funcionar en forma normal antes de cumplir los 40 años. Normalmente, los ovarios producen estrógenos y liberan un óvulo maduro en cada ciclo menstrual. La IOP hace que los ovarios no produzcan cantidades normales de estrógenos, y que no produzcan ni liberen un óvulo cada mes.

Alrededor de los 40 años, las mujeres son menos fértiles, pudiendo comenzar a tener períodos menstruales irregulares a medida que entran a la menopausia. No obstante, la insuficiencia ovárica primaria es diferente a la menopausia prematura. En la menopausia prematura, los períodos menstruales se detienen antes de los 40 años y la mujer ya no puede quedar embarazada. La causa puede ser natural o puede ser una enfermedad, cirugía, quimioterapia o radiación. Por el contrario, en la insuficiencia ovárica primaria, algunas mujeres todavía tienen períodos ocasionales, incluso pueden quedar embarazadas.

¿Cuáles son los síntomas y causas?

Los síntomas más comunes de la IOP son la irregularidad o suspensión de la menstruación, especialmente si la mujer también tiene calores repentinos. La menstruación puede ocurrir en forma intermitente o puede volver a comenzar muchos años después de que se diagnostique la insuficiencia ovárica. Debido a la disminución del nivel de estrógeno, las mujeres con IOP también pueden tener síntomas similares a los de la menopausia como sudores nocturnos, sequedad vaginal, irritabilidad, depresión, ansiedad, o dificultad para dormir o concentrarse.

En la mayoría de los casos se desconoce la causa de la insuficiencia ovárica primaria. Algunas mujeres con ciertos cambios en los genes y enfermedades genéticas, tales como el síndrome de Turner y el síndrome del cromosoma X Frágil, tienen mayores probabilidades de sufrir IOP. Además, la exposición a toxinas (por ejemplo, por quimioterapia y radiación) puede afectar la materia genética en las células y producir una insuficiencia ovárica primaria. A veces, una enfermedad autoinmune, cuando el sistema inmunitario ataca el propio tejido ovárico, puede ser responsable de la IOP.

¿Qué ofrecemos?

Desde OmicasLab, ofrecemos un panel compuesto por 25 genes implicados en el desarrollo de insuficiencia ovárica primaria (17 genes con relevancia clínica asociada y 8 genes emergentes), haciendo posible detectar si una paciente posee predisposición genética a desarrollar esta enfermedad. Para la realización de este estudio es necesario una muestra de sangre de la paciente, cuyo ADN será extraído y procesado posteriormente utilizando secuenciacion de nueva generación. De esta manera, se informará a la paciente de la presencia o ausencia de variantes genéticas asociadas al desarrollo de IOP.

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