Pregnancy and delivery in a patient with impaired sexual differentiation (Swyer syndrome)

Background. Swyer syndrome belongs to the group of “pure form" (complete) of gonadal dysgenesis and implies a lack of correspondence between the male genotype and the female phenotype; it refers to rare developmental anomalies, with incidence 1 per 100 000 people. As of 2018, less than 100 cases were registered in the world. The literature describes only about twenty clinical cases of successful carrying of a pregnancy and delivery in patients with this syndrome. Description of the clinical case. The patient is 37 years old. A survey of amenorrhea and primary infertility was undertaken for the first time at the age of 34 years (in 2015). During the examination, karyotyping was performed - a male karyotype (46XY) was revealed. According to a physical examination, the absence of ovaries and uterine hypoplasia (size of the uterus according to ultrasound: 4X3.5X.3 cm) were revealed. In 2018, she turned to the Clinic for Assisted Reproductive Technologies (ART); in vitro fertilization (IVF) was performed with a donor egg fertilized by her husband’s sperm, after preparation in a short cycle. Patient became pregnant on the first attempt. After the IVF procedure, the patient was registered for pregnancy. At the gestational age of 38 weeks and 5 days,patient was delivered by a planned cesarean section. The patient was discharged from the hospital on the 3rd day with a live child. Conclusion. Diagnosis of Swyer syndrome is not difficult and is based on the determination of the male karyotype (46XY) and impaired sexual differentiation in patients with primary amenorrhea, but it is often late due to late presentstion. The development of the reproductive system of patients allows to realize reproductive function when using ART programs with a donor egg for reproductive function when using ART programs with a donor egg. The course of pregnancy is favorable, the development of complications of gestation does not differ from general population ones and is determined by the presence of concomitant diseases. As a rule, pregnancy ends in operative delivery, in the absence of obstetric indications.

clinical case, impaired sexual differentiation, Swyer syndrome, gonadal dysgenesis