Fertility and pregnancy issues in a 46, XY (Swyer syndrome) patient in the face of ovarian cancer

Abstract Background In this paper we focus on 46, XY pure gonadal dysgenesis-Swyer syndrome. MethodsWe present the case of a 33-year old patient and the medical procedures enabling to achieve a pregnancy in the couple struggling with infertility.We analyzed patient’s medical history, scheduled further diagnostic and therapeutic procedures that included genetic tests and consultations, MRI (magnetic resonance imaging), laparoscopy, oncological risk assesment and possibilities of pregnancy.Results Patients medical history revealed her last menstrual period dated one year before she started searching for medical help. Due to a low AMH (anti-Muellerian hormone) level, genetic consultation and genetic tests were recommended. The patient was diagnosed with Swyer syndrome. She underwent laparoscopy to search for gonadal tissue. Histopathology of removed streak tissues revealed dysgerminoma. No metastases were found in a follow up MRI. The patient decided to participate in an egg donation program.Conclusions The diagnosis of karyotype containing Y chromosome in a phenotypical adult female patient raised as female demands optimal managing. It has to cover not only psychological and fertility aspects, but also the risk of development of gonadal tumors.