1. Outcome of ovarian stimulation for oocyte cryopreservation in women with Turner syndrome
Vikram Talaulikar, Melanie Davies & Gerard S Conway
Institute for Women’s Health, University College London
Background
The main characteristics of Turner syndrome include short stature and a failure to enter puberty because of an accelerated rate of atresia of ovarian follicles causing gonadal insufficiency and infertility.
Approximately 20% of women with Turner syndrome (TS) proceed normally through puberty with spontaneous menstruation. For this group of women, who are at increased risk of premature ovarian insufficiency, oocyte cryopreservation is an option1.
We report our initial results from women with TS undergoing this procedure.
Results
Clinical details and outcomes of ovarian stimulation are shown in the table. The majority (4/5) of women had a mosaic form of TS. Despite relatively low serum AMH concentrations (refererance range 13.1 – 58.6 pmol/L for this age group), oocyte retrieval was successful in all women with an average of 9 oocytes cryopreserved.
The procedure was well tolerated. All women recovered promptly after oocyte retrieval and ovarian hyperstimulation syndrome did not occur.
Age
Kayrotype
Baseline
FSH
Baseline AMH
AFC Count
Menstrual cycle
No. of Oocytes
BMI
Peak Oestradiol 22
45,X
6.9
3.5
3+4
Regular 9
26.7
5712 18
45,X/ 46,XX
3.2
3.1
4+5
Secondary
Amenorrhoea 13
23.1
8129
7.4 7
5+6
20.6
6118 25
45,X/46,XX/47,XXX
2.9
9.5
5+7 10
22.4
7016 21
45,iX/46,XX
6.2
3+2 4 28
4116
Methods
Five women with TS requested oocyte cryopreservation. Ovarian reserve tests including serum FSH (mIU/ml), serum AMH (pmol/l) and antral follicle count (AFC) by transvaginal scan were performed.
Ovarian stimulation involved subcutaneous injections of human menopausal gonadotrophin, combined with a gonadotrophin-releasing hormone antagonist started on day 6 of stimulation. In 4 out of 5 women, pre-treatment with oestrogen therapy was given for 4 weeks before the ovarian stimulation to ensure endometrial preparation.
After 9-10 days of stimulation, transvaginal oocyte retrieval under general anaesthesia was planned 36 hours after the administration of 10,000 units of human chorionic gonadotrophin. Oocyte morphology was analysed and oocytes were cryopreserved by vitirification.
Conclusions
Women with TS rate infertility as a major concern affecting their quality of life. Traditionally women with TS and ovarian failure have been offered egg donation or adoption as options for childbearing.
Oocyte cryopreservation is an option for women with Turner syndrome who retain ovarian function and may give them a chance to have their genetic offspring in future. The existing edical literature describes a few case reports of oocyte cryopreservation in women with TS. In our cohort of TS women, the oocyte retrieval rates appear to be similar to the published data from women without TS2.
The ultimate outcome in terms of live birth rate is yet to be determined and may be adversely affected by additional procedures such as pre-implantation genetic diagnosis in order to minimise the chance of chromosomal anomalies in the offspring.
Oktay K, Rodriguez-Wallberg KA and Sahin G. Fertility preservation by ovarian stimulation and oocyte cryopreservation in a 14-year-old adolescent with Turner syndrome mosaicism and impending premature ovarian failure. Fertility and Sterility 2010;94,753e15-9.
2. Cobo A and Diaz C. Clinical application of oocyte vitrification: a systematic review and meta-analysis of randomized controlled trials. Fertility and Sterility 2011;96,