Two successful pregnancies after in vitro fertilisation with oocyte donation in a patient with Swyer syndrome – a case report

Diagnosis of complete XY gonadal dysgenesis exposes the patient to the prospect of infertility and many years of medical treatment in order to avoid the development of diseases associated with this condition. However, sufficiently early diagnosis followed by the implementation of proper therapy improves the prognosis for enabling future pregnancies after IVF through the development of reproductive organs and prevention of health complications of hypoestrogenism such as cardiovascular problems and osteoporosis. This syndrome is very rare and affects 1 in 80,000 women. Due to the high risk of developing a gonadal tumour, prophylactic bilateral gonadectomy is one of the main procedures performed in a relatively brief time after diagnosis. Unfortunately, despite characteristic symptoms like primary amenorrhoea and underdeveloped breasts, the diagnosis is often made quite late. We report the case of a 45-year-old woman who had been diagnosed with Swyer syndrome at the age of 16 years. The patient underwent bilateral gonadectomy one year after the diagnosis due to the associated risk of developing malignancy and was treated since with hormone replacement therapy. At the age of 32 and 34 years, 2 successful IVF procedures were performed with oocyte donations. The pregnancies proceeded without any complications and both were resolved by caesarean section. The healthy sons’ weights were 3600 g and 3700 g, respectively.