Disorders of sex development

PURPOSE OF REVIEW: The current management of patients with intersex, now designated as disorders of sex development, is presented in the context of updated etiological and outcome data, refined surgical procedures and the need for a multidisciplinary approach. RECENT FINDINGS: The recently published consensus statement, the primary publication cited herein, includes known genetic causes of disorders of sex development, and provides a perspective for clinical evaluation, and medical, surgical and psychological management. The importance of fetal hormone exposure, genital development, gonadal differentiation and potential of fertility, full disclosure and parental involvement in decisions is crucial. All need a sex assignment; recommendations should be based upon what is judged to be the most likely adult gender identity, diagnosis, genital appearance and surgical options, fertility, cultural pressures, family dynamics and social circumstance, with deference given to psychosocial factors when the outcome is unpredictable. Surgery is discouraged for mild genital variations, but surgery during infancy is recommended for those with major genital ambiguity. SUMMARY: Even with greater understanding of the genetic causes of disorders of sex development, the complex management of these patients must be individualized, considering all aspects, informing as age-appropriate the parents and patient. Further etiology and outcome studies are needed.