Swyer syndrome is a rare condition affecting sexual development. In most cases, the aetiology of this disorder remains unknown. It can be inherited in an autosomal-dominant or recessive manner. Sometimes, spontaneous mutations may occur, or inheritance may be associated with sex [3,4,5]. Deletions in the DNA-binding region of the SRY gene have been observed in 10–20% of women with Swyer syndrome. In the remaining 80–90% of cases, SRY remains intact, suggesting that mutations in other factors responsible for testis determination may be involved [9,10,11]. Approximately 4% of individuals with Swyer syndrome have family members with the same sexual development disorder [12]. Our patient was tested for mutations in the SRY and AR genes, but none was detected.

Owing to the many challenges in diagnosing this syndrome, patients typically discover its presence around the age of 16 years. Patients with Swyer syndrome usually present with tall stature, elevated gonadotropin levels, delayed puberty, and primary amenorrhoea. Hypoestrogenism results in low bone mineral density, leading to osteopenia or osteoporosis [5,6,7]. The vagina and fallopian tubes usually are normal, the uterus is hypoplastic, and the gonads are streaked. Since streak gonads carry a 30% risk of developing gonadoblastoma, it is important to note that gonadoblastoma can produce gonadal steroids, such as oestrogen and testosterone, which can induce pubertal development. Therefore, Swyer syndrome may have been diagnosed later [1]. Given the increased risk of malignancy in individuals with intersex conditions who possess Y chromosomes, gonadectomy and salpingectomy are recommended [8]. Our patient had a tall stature with normal external female genitalia. The laboratory results indicated hypergonadotropic hypogonadism. The patient underwent bilateral gonadectomy. Histopathology confirmed streak gonads, and HRT was initiated. HRT is crucial for developing secondary sexual characteristics, preventing uterine hypoplasia, managing osteoporosis, addressing cardiovascular risks, and regulating the menstrual cycle [9]. Following this treatment, our patient experienced menstrual bleeding, normalisation of uterine size, and progression of breast development to Tanner stage 3.

Although individuals with Swyer syndrome generally face infertility due to underdeveloped gonads and an inability to produce gametes, egg donation offers an effective solution [1, 7]. The first reported pregnancy in a woman with Swyer syndrome due to OD was documented in 1988 [13]. In extremely rare cases, unassisted pregnancies have been reported; however, the exact mechanism remains unknown [12]. Patients with 46,XY gonadal dysgenesis who achieve pregnancy through OD face an elevated risk of obstetric complications, such as preeclampsia and pregnancy-induced hypertension. These risks arise from hormonal and structural characteristics of the uterus in this condition, which may impair trophoblast invasion. Hormonal imbalances or inadequate endometrial preparation for pregnancy could contribute to this impairment, increasing the risk of placental pathologies [14]. Additionally, the use of oocyte donation and assisted reproductive technologies (ART) is associated with a higher incidence of hypertensive disorders during pregnancy and an increased rate of caesarean section [15].

Publications on pregnancies in women with Swyer syndrome are primarily limited to case reports and case series. Between 1989 and 2022, a total of 41 pregnancies resulting in deliveries were documented in this population, resulting in 40 live births and one stillbirth (Table 1) [5, 7, 9, 13, 14, 16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37]. Additionally, two reports described three ongoing pregnancies without reported outcomes [19, 25]. The most extensive case series to date includes delivery data from seven patients [14]. Many publications lack detailed information on hormonal endometrial preparation protocols or the number of embryos transferred, instead focusing primarily on pregnancy outcomes. Among the reported cases with clear outcomes, 28 involved singleton pregnancies [5, 7, 13, 14, 17, 19, 20, 22, 23, 25,26,27, 29, 30, 32, 34,35,36,37], while 11 were twin pregnancies [9, 14, 18, 21, 23, 24, 27, 31, 33]. Two reports described triplet pregnancies: one involving two developing foetuses and a hydatidiform mole, and the other reporting a successful triplet pregnancy without documented complications (lacking detailed information) [16, 28]. Most patients (22) in the published series delivered at term [5, 7, 13, 14, 17, 19, 20, 22, 23, 27, 29, 30, 32, 34, 36, 37], while 18 cases resulted in preterm deliveries [9, 14, 18, 21, 24, 26,27,28,29, 31, 33, 35]. Preeclampsia was diagnosed in ten of the published cases, with two cases being classified as severe [14, 26, 28,29,30, 33, 35]. All patients with preeclampsia underwent caesarean section. In nine cases, preterm neonates were delivered at 28–36 weeks of gestation [9, 14, 26, 28, 29, 33, 35]. Caesarean section is the predominant mode of delivery in patients with Swyer syndrome, with indications varying across cases (Table 1). The preference for caesarean delivery is based on the hypothesis that vaginal delivery may be unsuccessful due to potentially impaired uterine contractility [9, 27]. However, this hypothesis lacks robust supporting evidence, as successful vaginal deliveries have been documented in patients with Swyer syndrome (Table 1). The primary indications for caesarean section in patients with Swyer syndrome can be categorized into four groups. The first includes pregnancy complications such as preeclampsia, multiple gestation, and foetal malpresentation. The second involves failed induction of labor, potentially linked to anatomical differences and altered receptor characteristics in Swyer patients. The third is an androgynous pelvic shape, which may impact the feasibility of vaginal delivery. Lastly, elective caesarean section is performed due to maternal health concerns or upon maternal request [14] (Table 1). To date, six successful vaginal deliveries have been reported, although one case resulted in stillbirth at 34 weeks of gestation [14, 29, 36]. In the analysed case, the patient conceived following the transfer of a single blastocyst. The pregnancy progressed uneventfully, without complications. An elective caesarean section was performed due to a history of surgical spinal fixation for scoliosis, as recommended by an orthopaedic specialist.

Two cases of uterine rupture during pregnancy have been reported in patients with Swyer syndrome. In one case, uterine rupture occurred at 20 weeks of gestation, leading to massive haemorrhage and necessitating an abdominal hysterectomy [23]. In the other case, uterine rupture was diagnosed at 28 weeks of gestation in a twin pregnancy. The foetuses were delivered alive via hysterotomy, and a 3-cm uterine rupture was surgically repaired [14]. In the latter case, severe preeclampsia was also diagnosed [