Abstract
Approximately one in 3500 to one in 5100 live-born infants have atypical external genital development, known as differences in sex development (DSD). In 2005, an expert consensus conference thoroughly reviewed aspects of health care for individuals with DSD. The conference proposed a classification system to help provide individualized evaluations and management. Some types of DSD are associated with germ cell tumors, which comprise a heterogeneous group of neoplasms derived from germline cells. These neoplasms commonly occur in infants, children, adolescents, and young adults. Herein, an overview of DSDs and risks for germ cell tumors is provided.