Endocrine Abstracts

Introduction: Turner syndrome (TS) is a chromosomal aberration with a total or partial loss of one of the two X chromosomes, occurring in 1/2000–1/2500 newborn girls. Primary ovarian insufficiency is a classic feature of this syndrome. Therefore, fertility preservation is proposed to girls or adolescents with TS. So far, no pregnancy has been reported in TS women after ovarian or oocyte freezing. The aim of our study was to evaluate the prevalence and the outcome of spontaneous pregnancies in a large cohort of women with TS.

Patients and methods: We recruited 321 TS adult patients from a network of specialised centres in rare diseases (CMERC). Clinical patient’s characteristics, reproductive history, hormonal data and karyotype have been collected, after informed consent, in a database (CEMARA). Reproductive data from the French general population have been obtained from French General Health Services (DGS).

Results: Seventeen patients (5.3%) had a total of 32 pregnancies. The two factors correlated with occurrence of a spontaneous pregnancy, were spontaneous menarche and mosaic karyotype (12/17). Pregnancy outcomes were miscarriage (n=11), medical interruption (n=1), legal abortion (n=2) and delivery at term (n=17). One pregnancy is still ongoing. Caesarean section rates were higher than in the general population, respectively 59 vs 21% (P<0.001). In our cohort, three patients presented pregnancy-induced hypertension, two had preeclampsia. No dilatation or dissection was observed. Two cases of TS were identified in daughters issued from this cohort.

Conclusion: Our study illustrates that spontaneous pregnancy in women with TS is a rare event (5.3%) but patients and their family should be informed before choosing fertility preservation. Higher risks of maternal complications and potential chromosomal abnormalities in children should be mentioned. Prospective studies are necessary to display prognostic values of pregnancy and thus better target fertility preservation programs.