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Background A discrepancy between the fetal karyotype and the appearance of genitalia on ultrasound can be a diagnostic challenge. In these cases, it is difficult to shorten the extensive list of differential diagnoses without information on internal anatomy and endocrine profile. Case presentation Here, we describe a diagnosis of 17-hydroxylase/17,20-lyase deficiency (17OHD), which was suspected based on low maternal serum estriol in the setting of 46,XY genitalia discordance. Through collaboration between maternal-fetal medicine and disorders of sex development (DSD) teams, the patient was counseled about the diagnosis and postnatal management plans were made. Conclusions This case illustrates how prenatal diagnosis of this rare condition led to reduced parental stress and seamless transition to postnatal care.

Prenatal diagnosis of 17-hydroxylase/17,20-lyase deficiency (17OHD) in a case of 46,XY sex discordance and low maternal serum estriol