Fertility issues and pregnancy outcomes in Turner syndrome

Fertil Steril. 2020 Jul;114(1):144-154. doi: 10.1016/j.fertnstert.2020.03.002.


Objective: To study fertility issues and pregnancy outcomes in Turner syndrome (TS).

Design: Retrospective cohort study.

Setting: Not applicable.

Patient(s): One hundred fifty-six TS patients, median age 32 years, 23 mosaic 45,X/46,XX, 45,X/47,XXX, 45,X/46,XX/47,XXX.

Intervention(s): None.

Main outcome measure(s): Fertility choices, spontaneous pregnancy, and oocyte donation (OD) outcomes. Conditions associated with aortic dissection and poor pregnancy outcomes at preconception were considered. Pregnancy-related aortic dimension changes and the long-term impact of pregnancy on TS-related comorbidities were assessed.

Results(s): In all, 13.5% had spontaneous pregnancies, resulting in a pregnancy with live birth in 18 patients (37 newborns); 16% considered OD, one adopted, and one underwent fertility preservation. Spontaneous pregnancy predictive factors were a karyotype with a second or third cell line with more than one X and spontaneous menarche. In all, 47.6% had miscarriages, two experienced preeclampsia, and two had gestational diabetes. One daughter was diagnosed with TS in adulthood. Seven of 14 who attempted OD had a pregnancy with live birth; two of seven had gestational diabetes; 64.3% attempting OD had risk factors associated with poor pregnancy outcomes, including four who had double embryo transfer. Cardiac status at preconception was evaluated in 12 of 25 women who had a pregnancy. The aortic diameters during pregnancy increased. The aortic growth at sinuses was 0.51 ± 0.71 mm/year and at ascending aorta 0.67 ± 0.67 mm/year, reaching a significant difference at sinuses compared with the growth in nulliparous TS. Among women who had a pregnancy, none experienced aortic dissection during and in the years after pregnancy.

Conclusion(s): This study highlights the importance of a TS-dedicated multidisciplinary management of pregnancy, before and during pregnancy and in the postpartum period.

Keywords: Turner syndrome; aortic dissection; pregnancy outcome; spontaneous pregnancy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Comorbidity
  • Female
  • Fertility*
  • Humans
  • Infertility, Female / diagnosis
  • Infertility, Female / etiology
  • Infertility, Female / therapy*
  • Live Birth
  • Pregnancy
  • Pregnancy Outcome
  • Reproductive Techniques, Assisted* / adverse effects
  • Retrospective Studies
  • Risk Assessment
  • Risk Factors
  • Treatment Outcome
  • Turner Syndrome / complications*
  • Turner Syndrome / diagnosis
  • Turner Syndrome / genetics
  • Turner Syndrome / physiopathology
  • Young Adult