Pregnancy in a Patient With Mosaic Turner Syndrome: A Case Report

Abstract

Turner Syndrome (TS) is a chromosomal sex disorder, phenotypically characterized by short stature, webbed neck, cubitus valgus, and rarely with slight intellectual disability. A majorityof TS patients (95%-98%) have infertility due to ovarian failure. Pregnancy in TS patients is an unusual case; however, pregnancy could rarely occur in mosaicism TS patients withoutany assistance. Pregnancy in such patients is associated with high risks of maternal mortality, spontaneous abortion, as well as the congenital and karyotype abnormalities of the fetus. A30-year-old pregnant woman has referred to our genetics lab with a history of polyabortivity. Her menarche occurred at the age of 13 years and her menstruation was claimed to be in aregular cycle. The patient’s two first pregnancies resulted in stillbirth, whereas the third one was delivered through caesarian surgery, but spoiled after 8 days. Our case was characterizedby mosaicism 45, X/45, XX, after referring as a multi-abortion case. The fourth pregnancy has happened at the age of 31 years and a healthy embryo with normal heart function wasdiagnosed by sonography in 17 weeks of gestation. The result of amniocentesis confirmed a healthy female embryo with 46, XX karyotype. Spontaneous pregnancy is regarded as aprecarious situation terrifying by abortion or malignancy; also, chromosomal abnormalities, like trisomy 21 and TS, are prevalent in offspring. Therefore, it is strongly recommended tohave cohort studies based on karyotype characterization to decrease the patient’s concerns as well as to follow more practical clinical approaches.