Endocrine Abstracts

Background: Turner syndrome (TS) occurs in approximately 1 in 2500 live female births. The frequency of pregnancies in TS patients is 2-5%. However, these pregnancies are at high risk of recurrent miscarriage, malformations in the children and poor cardiovascular outcomes in pregnant TS females.

Case presentation: A 34 year-old woman was diagnosed with TS (46XX/46Xr) at age 9. From 16 to 20 years old she was treated with sex hormone replacement therapy and had regular menstrual cycles (MC 28/5). Physical examination at age 18 showed: weight 50 kg, final height 151.7 cm, BMI 21.92 kg/m², pubertal stage P5, B5. Patient did not have any cardiovascular or other organ pathologies neither before nor after pregnancies. After withdrawal of hormonal therapy she continued to have regular menstrual cycles (MC 30/5). Woman conceived naturally at 22, 24 and 28 years. All three newborns were born at full-term by cesarean section due to fetopelvic disproportion.

1^st child, a girl, was born healthy, weighing 3460 g. Subsequent growth and development were normal.

2^nd child, a boy, was born healthy, with 3660 g. He was diagnosed with growth retardation at age 3 but did not require treatment with growth hormone.

3^rd child, a boy, was born weighting 4160 g. He was diagnosed with cleft lip and cleft palate at birth. These malformations were repaired by surgery. No maternal or pregnancy complications were detected.

Conclusions: Pregnancy and child bearing in TS can be particularly challenging due to maternal and neonatal complications. All TS pregnancies should be under multidisciplinary supervision during pregnancy and after delivery.