DOI: https://doi.org/10.36347/sasjm.2025.v11i07.002

Pages: 673-676

Introduction: Disorders of sex development (DSD) are rare congenital conditions characterized by atypical genital, gonadal, or chromosomal sex, with an incidence of 1/10,000 births. Antenatal ultrasound can detect ambiguous genitalia, prompting specialized evaluation. Case Presentation: A 30-year-old primigravida’s fetus was diagnosed with ambiguous genitalia (micropenis, hypospadias) at 22 weeks’ gestation via ultrasound. Trophoblast biopsy confirmed trisomy 13, and postnatal examination revealed additional dysmorphic features. Results: Multidisciplinary antenatal management included specialized ultrasound and genetic counseling, with postnatal confirmation of DSD and trisomy 13. Conclusion: This case highlights the importance of antenatal ultrasound in detecting DSD, the association with trisomy 13, and the need for comprehensive genetic and multidisciplinary evaluation.