Turner syndrome: reproductive health concerns

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  • Women with Turner Syndrome (TS) have a short reproductive lifespan and pregnancy is considered high risk.

Study design

  • Literature search on the management and fertility in women with TS.
  • Funding: Source of funding not disclosed.

Key results

  • Fertility preservation with ovarian tissue cryopreservation can be considered.
  • Preconception care includes counseling on various options for attaining pregnancy, body mass index, screening for hypertension, PAP testing, thyroid function testing, fasting blood glucose, vitamin D levels, liver funtion tests (LFTs), renal function tests, echocardiography, Maternal-fetal medicine consultation, nutrition counseling, renal ultrasound, hepatic ultrasound if LFTs are abnormal, pelvic ultrasound, echocardiogram, bone mineral density.
  • Risks during pregnancy include increased risk for miscarriage (29%), fetal death (2%), small for gestaional age (18%-28%), prematurity (12%), thyroid dysfunction (22%), gestational diabetes (15%-17%), preeclampsia (21%), cesarean section (82%), worsening of congenital heart disease (1%), maternal death (2%).
  • Contraindications to pregnancy: history of aortic surgery, history of aortic dissection, coarctation of the aorta, resistant hypertension.
  • Obstetrical and postpartum care: multidisciplanary follow-up with special attention to blood pressure monitoring, cardiology consult each trimester, early 75 g glucose tolerance test and at normal time, thyroid function testing, LFT, close cardiovascular monitoring, increased antepartum surveillance.

Why this matters

  • TS occurs in 1/2500 live female births.
  • TS often results in premature ovarian failure. However, fertility treatments have made pregnancy possible in many women with TS.
  • Pregnancy is considered high risk in women with TS.