ABSTRACT
A child born with disorders of sexual development (DSD) must be evaluated immediately at birth by a well-organized and experienced medical team. Many syndromes can affect later sexual development, but only four result in DSD at birth: 46,XX DSD (formerly known as female pseudohermaphroditism), ovotesticular DSD (true hermaphroditism), 46,XY DSD (previously known as male pseudohermaphroditism and undervirilization or undermasculinization of an XY male), and mixed gonadal dysgenesis (MGD) 45,X/46,XY. A child with pure gonadal dysgenesis, although having a 46,XY karyotype, is phenotypically female. The gender, which is appropriate to the anatomy of the infant, must be decided as early as possible, since new parents are asked about the sex of the child as soon as the birth is known. They must be able to give an answer that is commensurate with the gender assignment that will eventually provide the most satisfying functional result. However, it is important that parents be reassured and to work closely with a team of DSD experts who will help the family make a decision with which all will be most comfortable.
