EP25.14: Ultrasound evaluation of the Swyer syndrome

This case report describes a 28-year-old individual with female social gender, presenting with primary amenorrhea and underdeveloped breasts since the age of 16. Chromosomal analysis revealed a 46XY karyotype with a positive SRY gene, indicative of male genetic sex, leading to a diagnosis of 46XY Complete Gonadal Dysgenesis (Swyer Syndrome). Despite normal menstrual volume and sexual activity, the patient experienced unsuccessful IVF-ET attempts at another hospital. Clinical findings include normally developed external genitalia and vaginal structures, with ultrasounds showing a normal-sized uterus and gonadal-like tissue echoes in the adnexal regions. Laboratory tests revealed low AMH and testosterone levels, with elevated FSH and LH. Hysteroscopic and laparoscopic examinations found a normal uterus, slightly elongated fallopian tubes, and fibrous cord-like gonadal tissues, alongside pelvic and abdominal adhesions and stage I pelvic endometriosis. This case emphasises the importance of considering Swyer syndrome in patients with primary amenorrhea and a 46XY karyotype. The condition is characterised by phenotypic and genotypic discrepancies, with a risk of gonadal tumours necessitating prophylactic bilateral gonadectomy. Differentiation from other conditions presenting with a 46,XY karyotype and female phenotype, such as CAIS and CAH, as well as from MRKH Syndrome (with a 46,XX karyotype), is crucial for appropriate management. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.