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

Disclosures

Clin Endocrinol. 2019;91(5):646-651. 

In This Article

Results

Population

Nine women with TS were referred to our centre by either their paediatrician, gynaecologist or endocrinologist, at the age of 9–27 years [mean age 18.7 years, median age 17 years]. Three women underwent the full COS procedure. Their baseline clinical, biological and ultrasonographic characteristics are described in Table 1. Their mean age at TS diagnosis was 13.7 years [9–20 years, median age 12 years] with various genetic conditions causing TS. Except a history of growth retardation, these women presented very few characteristic clinical features of TS. All three had spontaneous puberty and menarche. Average referral delay between TS diagnosis and fertility consultation was 9.7 years [7–14 years]. Mean plasmatic AMH level was 53.8 pmol/L [3.6–95 pmol/L]. One patient had sonographic criteria of polycystic ovarian syndrome (PCOS) with increased plasmatic AMH level. None had spontaneous pregnancy before preservation.

Fertility Preservation Strategy

Protocols and outcome of COS are described in Table 2. Mean age at first attempt of COS for oocyte vitrification was 23.7-year-old [18-28 years, median age: 25 years]. The procedure was successful and well tolerated for the three women; none presented ovarian hyperstimulation syndrome. Patient 1 with secondary amenorrhoea benefited from a three-cycle strategy of repeated COS for oocyte accumulation because of poor response related to DOR. The average of 15.3 metaphase II oocytes were cryopreserved per patient [9–20 oocytes, median: 17] and 9.2 mature oocytes per cycle [2-10 oocytes, median: 5]. Oocyte genetic analysis was not performed after retrieval. No oocyte has been yet thawed for in vitro fertilization (IVF). During the follow-up, no spontaneous or ART pregnancy has been described for these women.

Description of Non-included and Excluded Patients

Six women with TS were referred to our centre for but did not benefit from a FP strategy. A young 9-year-old girl with mosaicism attended before the occurrence of puberty: she was advised to come back a few years later for ovarian reserve evaluation. A 12-year-old girl with mosaicism was starting puberty: she was asked to come back a few years later for COS attempt. A 13-year-old adolescent with 45,X monosomy already presented POF (no spontaneous puberty with high serum FSH levels) with a contraindication for pregnancy because of aortic ectasia: no FP option was possible. A 17-year-old mosaic patient had polycystic ovarian syndrome (PCOS) with increased AMH levels 161.4 pmol/L: AMH monitoring was suggested in order to go through the COS process in a few years when she will feel ready for it. A 24-year-old women with 45,X monosomy needed induction of puberty with hormone replacement therapy along with high FSH and undetectable AMH: FP was not possible. Finally, one 23-year-old woman was excluded. She had a paternally inherited X chromosomal rearrangement with growth retardation. TS diagnosis was discussed after she presented ovarian hyperstimulation syndrome with 26 matures oocytes retrieved after one single cycle. CGH-array did not point out any microdeletion or duplication, ruling out the diagnosis of TS.

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