Successful pregnancy in karyotype 46,XY patient (Swyer's syndrome)

Abstract

Introduction: Complete gonadal dysgenesis (Swyer syndrome) is a rare disorder of sexual differentiation characterized by normal or low development of the external genitalia, uterus and fallopian tubes, with non-functioning gonads. The incidence of this rare condition is estimated to be approximately 1 per 80,000 births. Treatment of this condition is based on hormone replacement therapy and bilateral gonadectomy to prevent the development of gonadal tumor. Even though infertility resulting from aplastic gonads is a common problem among individuals with Swyer syndrome, oocyte donation is an effective method of fertilization, which enables affected women to become pregnant. Case report: There is a presentation of a woman diagnosed by XY gonadal dysgenesis at the age of 16 years. The patient underwent a physical examination because of primary amenorrhea. Chromosome analysis revealed a 46 XY karyotype. Regarding the high risk of tumors, prophylactic bilateral gonadectomy was performed after diagnosis, followed by treatment with hormone replacement therapy to ensure normal puberty and bone mineral density formation. In 2009 years, Th4-Th5 spine correction and fixation surgery was performed due to idiopathic scoliosis. At the age of 34 years she underwent oocyte donation and IVF (Intracytoplasmic sperm injection procedure with donated oocyte). Day-3 embryo was transferred into her uterus successfully. The course of the pregnancy was smooth. At the 39th week of gestation, the patient was presented to the hospital because of possible leakage of amniotic fluid with some blood. It was decided to perform a C-section due to an adverse medical history and spinal fixation surgery. Spinal anesthesia was unsuccessful because it was not possible to localize the intervertebral space therefore general endotracheal anesthesia was performed. A healthy baby with an Apgar score of 9 was delivered. Further treatment was without complications. Conclusions: This case report aimed to show that patients with Swyer syndrome may become pregnant without any major problems through assisted reproduction. Due to certain abnormalities in organ development, such cases may be higher-risk pregnancies. After delivery, hormone replacement therapy should be used for the preservation of bone health in all such patients.