Background: Turner syndrome (TS) occurs in 1/2000 newborn girls. Primary ovarian insufficiency (POI), due to an increased follicular apoptosis, is a classic feature of TS. It occurs in more than 95% of TS patients. Therefore, oocyte donation is often the only option for women desiring a pregnancy.
Objective and hypotheses: Few studies have reported the outcome of spontaneous pregnancies (SP) in TS patients.
Method: We evaluated the prevalence of SP in a large cohort of 480 French women with TS, recruited from Centres of Rare Diseases, all over France.
Results: Twenty-seven patients (5.6%) had a total of 52 SP. The two predictive factors correlated with occurrence of a SP, were spontaneous menarche and mosaic karyotype. Miscarriage occurred in 16 pregnancies (30.8% versus 15% in the general French population (P<0.01)). The remaining pregnancy outcomes were: legal abortion (n=2), medical interruption (n=3), intrauterine fetal death (n=1) and delivery at term (n=30). Caesarean section rates were higher than in the general population, respectively 46.7% versus 21% (P<0.001). Pregnancy-induced hypertensive disorders (PHDs) occurred in 4 cases (13.3%), including 2 cases of mild preeclampsia (6.7%). Neither aortic root dilatation nor aortic dissection was observed. Two cases of TS were identified in the 17 daughters issued from this cohort.
Conclusion: Our study suggests that pregnancy outcomes in SP are more favorable than those in TS after oocyte donation. Furthermore, it should help giving patients with TS, their families, pediatricians and physicians involved in reproduction, a better counseling concerning fertility. However, predictive markers of SP are still lacking. Finally, oocyte freezing in TS patients will be discussed. Adding SP and pregnancies after oocyte freezing, pregnancies issued from their own oocytes may be more common in TS patients, in the near future.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology