Few diagnoses generate more profoundly difficult ethical, emotional, psychological, and physical issues for patients and their parents than that of a disorder of sexual development. For parents, the most immediate problem is sex assignment. They need to be able to answer the question that is invariably the first one to be asked of them: “Is it a boy or girl?” The work up needs to be quick but thorough, before a rash and potentially regrettable decision is made. Sex assignment was traditionally made by the medical professionals involved (predominantly men) often in a paternalistic and categorical fashion, without input from the parents and without regard for issues related to sexual identity or psychosocial development. For the most part, if the child had a phallus, the assignment was male, and if there was no phallus (or an inadequate phallus), the assignment was female. Many of these patients eventually suffered greatly as they entered adolescence and adulthood because of inescapable feelings of having been erroneously assigned. Today, though the decision is still very difficult, more is known about the physiology of the disorders, parents are given much more of a say in the decision-making process, and, most importantly, patients are treated with considerably more compassion and acceptance than they were in the past.
Care of the child with a DSD should involve a multidisciplinary team that includes pediatric urology, endocrinology, genetics, psychology/psychiatry, and social work. Families need a great deal of emotional support and it is always best to include them as integral members of the team. The work up should be evidence-based and systematic, such that the initially overwhelming differential diagnosis can be pared down quickly and appropriately and the parents can best decide how to proceed. It cannot be overemphasized that these situations need to be handled tactfully and with the utmost empathy. Every word overheard by the parents will be scrutinized and if misinterpreted can lead to deep resentment and anger.