Background: Disorders of Sex Development (DSD) encompass a range of congenital conditions involving discordance between chromosomal, gonadal, and phenotypic sex. One complex presentation involves phenotypically female individuals with a 46, XY karyotype, raising differential diagnoses such as Complete Androgen Insensitivity Syndrome (CAIS), Swyer syndrome, and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.
Case Presentation: A 22-year-old individual raised as female presented with primary amenorrhea. Physical examination showed Tanner stage 3 breast and pubic hair, absent vaginal introitus, and no palpable uterus. Pelvic MRI revealed agenesis of the uterus, cervix, and upper vagina, with bilateral intrapelvic gonads initially resembling ovaries. Hormonal tests showed elevated testosterone (88.67 nmol/L), high LH (30.8 mIU/mL), and low-normal estradiol (23.6 pg/mL). Karyotyping confirmed 46, XY. Despite initial imaging suggesting MRKH, the hormonal and chromosomal findings supported CAIS. Multidisciplinary assessments, including psychiatry and forensic medicine, affirmed a consistent female gender identity. The patient declined surgical intervention and was referred for long-term follow-up.
Conclusion: This case highlights the importance of integrating clinical, hormonal, radiologic, and genetic data to distinguish among 46, XY DSD etiologies. Accurate diagnosis is essential not only for guiding medical management but also for supporting gender identity and psychological well-being. In CAIS, gender-affirming, individualized care and long-term support are crucial for optimal health outcomes.