The availability of reproductive technologies promises potential for fertility preservation in young women with TS; however, we await reports addressing whether preserved gametes can lead to the much-wanted safe and successful pregnancies. In the interim, some of these technologies raise new dilemmas for paediatric clinicians. In the majority of girls with TS, there is a narrow window of opportunity to discuss interventions such as cryopreservation of ovarian tissue or oocytes. Families may view this with a degree of urgency. However, ovarian tissue cryopreservation itself remains experimental, no pregnancies have been reported in women with TS, and the risks of pregnancy to the TS mother are great.
While the medical community has made significant gains in reproductive technology, it is clear that greater effort is required to assist counselling of both young women with TS and their families regarding future fertility options. Focus should be on improved coordination between health disciplines, efforts to keep abreast of current reproductive technologies, transparent communication regarding expectations and potential risks of pregnancy, and stringent transition of care to practitioners familiar with the risks involved.
Until evidence of any benefit from earlier intervention exists, we agree with the recommendation that invasive techniques be considered at the age where a child with TS has some understanding of the underlying indication. At this stage, invasive fertility preservation treatment should be considered only in specialized centres with approved institutional protocols. This could occur via the institutional clinical research or clinical ethics boards, to enable a thorough review of the risks and expected outcomes in each case.
We look forward to further research into outcomes of assisted reproduction in women with TS, particularly for autologous cryopreserved gametes. Of equal importance, we call for further evaluation of the cardiac risks of pregnancy in women with TS, stringent auditing and publication of all pregnancy outcomes, and strategies to address associated morbidity and mortality. Physicians may then be better placed to provide assistance to achieve the much-wanted pregnancies without causing harm.
The authors have nothing to declare.
JH is supported through a National Health and Medical Research Council Postgraduate Scholarship (APP607439), along with funding from the Royal Australasian College of Physicians and the Australasian Paediatric Endocrine Group. Authors from the Murdoch Childrens Research Institute are supported by the Victorian Government Operational Infrastructure Support Program. The authors would like to thank Dr Patricia Moore for her assistance with the preparation of this manuscript.
Clin Endocrinol. 2013;79(5):606-614. © 2013 Blackwell Publishing