Caracterización Citogenética y Molecular en tejido gonadal de pacientes con syndrome ovotesticular y disgenesia gonadal 46,XY y 46,XX

Palabras clave: Disgenesia gonadal, síndrome ovotesticular, FISH, MLPA, aCGH, SRY

Resumen

Resumen

Objetivos: La etiología de la disgenesia gonadal y el síndrome ovotesticular se desconoce en la mayoría de los casos. Para realizar la caracterización citogenética y molecular de un grupo de pacientes con síndrome ovotesticular y disgenesia gonadal completa a partir de muestras de sangre periférica y tejido gonadal.

Material y métodos: Se incluyeron un total de 6 pacientes, 3 con diagnóstico de síndrome ovotesticular 46, XX, uno diagnosticado con 46, XY síndrome ovotesticular; uno con sospecha de disgenesia gonadal 46, XX y otro con disgenesia gonadal completa 46, XY.

Resultados Todos los pacientes fueron evaluados con cariotipo, hibridación in situ fluorescente (FISH) para SRY, amplificación de sonda dependiente de ligación múltiple (MLPA) e hibridación genómica comparativa (aCGH) en muestras de sangre periférica. En los casos con tejido gonadal disponible, los niveles de expresión genética de SOX3, SRY y SOX9 se determinaron mediante PCR en tiempo real e inmunofluorescencia. Se descartaron reordenamientos relacionados con el gen SRY. No se detectaron deleciones/duplicaciones o variaciones en el número de copias (NVC) como etiología del trastorno del desarrollo sexual en ninguno de los pacientes estudiados. En un caso de síndrome ovotesticular 46, XX, el cariotipo gonadal era diferente del cariotipo en sangre periférica. Se observó expresión aberrante de SOX3 y SOX9 en tejido gonadal de un caso con síndrome ovotesticular 46, XX.

Conclusiones: Se documentaron niveles más bajos de expresión de SRY y SOX9 en comparación con los niveles en líneas celulares humanas de testículo embrionario y Sertoli en el tejido gonadal de un caso con síndrome ovotesticular 46, XY. Los estudios citogenéticos y moleculares de las gónadas como complemento del estudio de sangre periférica tienen el potencial de enriquecer la comprensión de los trastornos del desarrollo sexual en pacientes que son XX o XY en sangre periférica.

Citas

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Publicado
2021-09-29
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