Fertility Preservation in Turner Syndrome

Karyotype Does Not Predict Ovarian Response to Stimulation

Julia Vergier; Pauline Bottin; Jacqueline Saias; Rachel Reynaud; Catherine Guillemain; Blandine Courbiere


Clin Endocrinol. 2019;91(5):646-651. 

In This Article

Abstract and Introduction


Objective: Turner syndrome (TS) is responsible for gonadal dysgenesis with high risk of premature ovarian insufficiency. Little is known about fertility preservation (FP) strategies is this population.

Design: Data from women with TS consulting with a fertility specialist in our FP centre from 2014 to 2018 were retrospectively collected.

Measurement: Total number of mature oocytes cryopreserved using vitrification.

Patients: Nine women with TS were referred. Three women with different karyotypes underwent controlled ovarian stimulation (COS) for oocyte vitrification. Mean age at TS diagnosis was 13.7 years [9–20]. Mean referral delay between TS diagnosis and fertility consultation was 9.7 years [7–14]. First counselling for FP was provided at 23.7 years [18–28]. Mean AMH serum level prior to COS was 53.8 pmol/L [3.6–95].

Results: All three women succeeded in obtaining cryopreserved oocytes with a mean number of 15.3 per woman [9–20] and 9.2 per COS cycle [2–20]. Ovarian response to COS was unexpectedly remarkable for the woman with a complete 45,X monosomy. Procedure was well tolerated for all women. None of them have used oocytes for in vitro fertilization yet.

Conclusions: Independently of karyotype, antral follicular count, AMH and FSH levels seemed to be reliable predictive markers of oocyte cryopreservation success. In a monosomic TS woman, cryptic ovarian mosaicism could explain a successful ovarian response to stimulation with a high number of retrieved oocytes. In case of spontaneous menarche, TS adolescents should be referred during transition to adulthood for FP counselling to avoid referral delay and limit time-related diminished ovarian reserve.


Turner syndrome (TS) is the most common female sex chromosome abnormality which affects 1/2500 newborn girls.[1,2] Integrity of the X chromosome long arm is essential for fertility.[3] Natural history of TS is oogenesis abnormalities and accelerated foetal germ cells apoptosis.[4] There is a wide spectrum of phenotypes depending on the primordial follicles pool left: about 30% of TS girls have some pubertal development,[5] 10%-20% undergo menarche,[6] and 2%-8% go through spontaneous pregnancy.[6–10] Although genotype-phenotype correlation is not completely understood, mosaic TS women seem to have a milder phenotype with less impaired reproductive function compared to those with 45,X monosomy:[11] they are more likely to have spontaneous puberty, normal levels of gonadotropins or sex steroids, and follicles in ovarian biopsies.[12] Follicle density has also been negatively correlated with girl age and serum levels of FSH.[13]

Recent improvements in reproductive medicine offer the opportunity of fertility preservation (FP) to women with diminished ovarian reserve (DOR) before premature ovarian failure (POF). Different techniques have been suggested over the past decades, such as ovarian cortex cryopreservation and oocyte cryopreservation after vitrification for post-pubertal girls.[12,14] FP for TS women has become a contested matter with pros and cons supported by different teams.[15,16] There are currently no adopted recommendations, and these reproductive technologies raise new dilemmas and ethical concerns for physicians.[14,17] Some previous works report controlled ovarian stimulation (COS) for women with TS.[18,19] The objective of our study was to report our experience.