Gestation at term in a patient with Turner syndrome in mosaic

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Luz Imelda Ochoa Bohórquez
Diana Paola Cuesta Castro
José Luís Ramírez Castro
John Jairo Ocampo Villa
Javier Alberto Villegas Stellyes
Juliana Lopera Solano

Abstract

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.

Keywords:
Turner SYNDROME, mosaicism, gonadal dysgenesis

Article Details

Author Biographies

Luz Imelda Ochoa Bohórquez, Pontifical Bolivarian University

Doctor, Pediatrician.

Diana Paola Cuesta Castro, Pontifical Bolivarian University

Physician, MSc in Epidemiology. Teacher Faculty of Medicine. Pontifical Bolivarian University.

José Luís Ramírez Castro, Pontifical Bolivarian University

Physician, Clinical Geneticist. Teacher Faculty of Medicine. Pontifical Bolivarian University.

John Jairo Ocampo Villa, Pontifical Bolivarian University

Students Faculty of Medicine Universidad Pontificia Bolivariana.

Javier Alberto Villegas Stellyes, Pontifical Bolivarian University

Students Faculty of Medicine Universidad Pontificia Bolivariana.

Juliana Lopera Solano, Pontifical Bolivarian University

Students Faculty of Medicine Universidad Pontificia Bolivariana.

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