Endocrine Abstracts (2016) 41 EP690 | DOI: 10.1530/endoabs.41.EP690

Turner syndrome and reproductive counseling

Nuno Vicente1, Helena Lopes2, Daniela Couto2, Paulo Cortesão2, Paula Sousa2, Luísa Barros1, Margarida Bastos1, Francisco Carrilho1 & Teresa Almeida Santos2


1Endocrinology, Diabetes and Metabolism Department, Coimbra, Portugal; 2Fertility Center - Reproductive Medicine Department, Coimbra, Portugal.


Introduction: Spontaneous fertility in Turner syndrome (TS) is rare, due to low or absent ovarian reserve. A greater number of ovarian follicules is present in the cases of gonadal mosaicism, although the accelerated pace of apoptosis remains. Thus, the early referral to reproductive counseling is advisable, ideally soon after diagnosis. The criopreservation of oocytes is one of the options for fertility preservation. The authors present a series of 7 patients with TS admitted in Reproductive Medicine Department between 2012 and 2015.

Case reports: Case 1: 33-years-old, karyotype 45,X, admitted with primary infertility. Because of low ovarian reserve, she was advised about oocyte donation and cardiovascular risks of pregnancy were explained. Case 2: 37-years-old, karyotype 45,X, admitted for fertility preservation. After the second ovarian stimulation cycle (OSC), she has 1 oocyte criopreserved. Case 3: 37-years-old, karyotype 45,X/46,XX. Admitted with secondary infertility (one previous pregnancy three years ago after in vitro fertilization). The two OSC were unsuccessful. Case 4: 16-years-old, karyotype 45,X/46,XX and admitted for fertility preservation. After the first OSC, she has 11 criopreserved oocytes. Case 5: 33-years-old, admitted with primary infertility, karyotype 45,X/46,XX. After the first OSC, three oocytes were retrieved, originating 2 embryos, which were not transfered because of bad development. Case 6: 24-years-old, karyotype 45,X. She was informed that pregnancy is contraindicated because of cardiovascular disease (bicuspid aortic valve with mild regurgitation). Case 7: 33-years-old, karyotype 45,X. Admitted with primary infertility. The patient has a mild aortic aneurisma. She was referred for oocyte donation because of poor ovarian reserve and will to conceive, despite the risks.

Conclusion: These 7 cases illustrate the complexity of reproductive counseling in these patients. Early referral increases the probability of success in oocyte preservation. The ovarian reserve, structural cardiovascular disease and ethical problems condition the therapeutic options.

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