Infant With Severe Penoscrotal Hypospadias: A Complex Case of Genital Ambiguity and Mistaken Identity

Individuals with an incongruence of their chromosomal sex and genital appearance are classified as having a disorder of sexual development (DSD), and they often present with ambiguous genitalia. The diagnosis and management of DSD patients are usually challenging and require a multidisciplinary approach. Gender assignment should not be based solely on physical exam and imaging but also on the genotype and hormonal function of the gonads. We present an infant born with ambiguous genitalia; the parents were told they were having a male infant during the prenatal ultrasound but at birth, the infant was found to have female-appearing external genitalia with no palpable gonads. MRI of the abdomen was inconclusive, but further workup, including karyotype, hormonal function, and intraoperative evaluation, was consistent with a male infant. He was, therefore, subsequently assigned to the male sex.