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.
Tópico:
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities