Atypical presentation of potter sequence associated with 46, XX testicular disorder of sex development.

Prenatal diagnosis of congenital anomalies is primarily based on ultrasound assessment. This may be limited in settings with structural abnormalities and diagnoses that rely heavily on genetic testing. A 33-year-old white woman, gravida 1, para 0, at 17 weeks of gestation, presented to the outpatient clinic the day after being involved in a motor vehicle collision, without any obstetric complaints. Upon physical examination, minimal tenderness was noted in the left lateral back. Serological markers were unremarkable. Ultrasound revealed an absence of fetal urinary bladder and bilateral renal agenesis, a finding consistent with Potter syndrome. Due to the severity of anomalies, the patient elected to terminate the pregnancy. Post-termination fetal examination suggests a male phenotype. The products of conception were collected and sent for karyotyping and microarray analysis, which revealed a normal female karyotype (46, XX). The case highlights a unique case of discordance between phenotypic and genotypic sex in the setting of congenital anomalies. It underscores the importance of confirmatory genetic testing and the integration of cytogenetics with prenatal imaging to help ensure accurate diagnosis when phenotypic findings alone may be unreliable.