Successful spontaneous pregnancies in a patient with mosaic Turner syndrome – Case report and review of literature

Abstract

Turner syndrome (TS) is a chromosomal abnormality resulting from complete or partial loss of an X chromosome, and it affects 1 in 2500 live born females. Most patients with TS undergo ovarian failure at an early age and are infertile. However, a minority of patients, especially those with a mosaic cell line, achieve puberty with a small amount of follicles and thus have a chance of conceiving with their own oocytes. Pregnancy in TS patients is associated with increased obstetric and cardiovascular complications.
We report the case of a mosaic TS patient with hypertension and autoimmune thyroid disease, who successfully conceived twice, each time with good maternal and neonatal outcomes. We also present a short review of the literature on possible pregnancy complications associated with this disorder.