Unanticipated diagnosis of Swyer syndrome: a case report

Swyer syndrome or complete/pure gonadal dysgenesis, a rare genetic disorder, presents with a female phenotype despite a 46, XY karyotype. The case highlights the importance of early diagnosis and management in XY females to prevent gonadal malignancy and facilitate proper growth of secondary sexual characteristics of the patient by initiating hormone replacement therapy (HRT).

A 15-year-old female presented with lower abdominal pain, seeking an investigation, ultrasonography revealed the non-visualization of the uterus. Further examination with MRI revealed a hypoplastic uterus and non-visualization of ovaries. Clinical examination and diagnostic laparoscopy along with karyotype analysis confirmed the diagnosis of Swyer syndrome, prompting bilateral Salpingo-oophorectomy and initiation of HRT after the surgery. Follow-up showed improvement in the growth of the uterus and secondary sexual characteristics.

Case discussion explores into the unique clinical findings of Swyer syndrome, emphasizing the importance of differentiating it from other disorders of sex development (DSD) like Mayer-Rokitansky-Küster-Hauser syndrome and androgen insensitivity syndrome. Genetic and hormonal aspects of the condition are also explored in relation to the patient's presentation and management.

The case highlights the significance of early diagnosis and comprehensive management of Swyer syndrome. It emphasizes the need for multidisciplinary care, including fertility counseling and psychological support, in addressing the complexities of rare genetic disorders like Swyer syndrome. The key message includes the importance of considering Swyer syndrome in cases of primary amenorrhea, the benefits of early surgical intervention, and the necessity of psychological support for patients.