ABSTRACT
El Síndrome de Turner es la entidad más frecuente que compromete los cromosomas sexuales. Se caracteriza por la ausencia parcial o total del cromosoma X (45XO), aunque también se han descrito variantes en mosaico con cariotipo 45XO/46XX. Este síndrome se caracteriza por una falla ovárica temprana y disgenesia gonadal, la cual se traduce en infertilidad e incapacidad para lograr embarazos a término. El objetivo del presente estudio es presentar una mujer de 30 años de edad, con historia clínica de talla baja y disgenesia gonadal, quien a los 14 años se le diagnosticó un Síndrome de Turner en mosaico con cariotipo 45XO / 46XX; un año mas tarde tuvo la menarca y a los 24 años se le diagnosticó un embarazo que llegó a término sin ninguna complicación. Este es el primer caso que se informa en nuestro país.
Turner syndrome is the most common abnormality affecting sex chromosomes. It is usually caused by the complete or partial loss of an X-chromosome (45XO). This condition may also occur with a chromosomal change in some cells (45XO/46XX), which is known as X chromosome mosaicism.The most common characteristics include being shorter in height than average,premature ovarian failure and gonadal dysgenesis. Furthermore, most of women affected by the syndrome can not become pregnant. This is the case of a thirty year old woman with short stature and gonadal dysgenesis whose diagnosis was made when she was fourteen. One year later she had spontaneous menarche and became pregnant at age twenty-four. There were no complications during the pregnancy and she was able to deliver a healthy newborn baby. This is the first case of a woman with turner syndrome who achieved a successful pregnancy reported in Colombia.