Disorders of sex development

Abstract The birth of a baby with disorder of sex development (DSD) is a clinical challenge that requires the involvement of a multidisciplinary group of specialists including pediatric endocrinologists, geneticists, urologists, gynecologists, social workers, and psychologists/psychiatrist with an expert in this field. The findings, plan for investigation, gender assignment, and treatment should be discussed among the group members prior to meeting the parents. Once a consensus is being reached, the information should be presented to the parents to easily understand fashion, and their questions should be answered, so that they can make an informed decision regarding gender assignment and surgical and hormone treatment. Potential for sexual relationship and fertility preservation should be discussed. DSD can be categorized into isolated and nonisolated and further classified into chromosomal, gonadal, and anatomic internal and external abnormalities. Investigation should be directed by the findings and genetic tools including microarray analyses and DNA analysis using DSD panels and, when need, whole exome/whole genome sequencing should be performed.