Management of boys and men with disorders of sex development.

PURPOSE OF REVIEW: This review of disorders of sex development (DSDs) in boys and men will outline the conditions that may lead to this phenotype, present some guidance on how to evaluate and investigate affected cases and then review the medical and surgical management and subsequent outcome.

RECENT FINDINGS: DSDs are a wide range of relatively rare conditions which need multidisciplinary input. The underlying cause is clearer in girls with DSDs, but the actual diagnosis remains unclear in the majority of boys with DSDs.

SUMMARY: There is a need to improve the diagnostic yield and develop standardized methods for assessing, describing and investigating DSDs as well as for reporting outcome. This will lead to improved clinical management and genetic counselling.