Disorders of sex development: Classification and treatment

Abstract

Aims: To present the proposed classification and terminology used in describing Disorders of Sex Development (DSD). Critically discuss management and evaluate available outcome data.Brief description of the reviewed data: Disorders of Sex Development can be classified as 46, XY DSD, 46, XX DSD, and sex chromosome DSD. Following diagnosis, the need for gender assignment, sex steroid replacement, and surgical interventions including feminising genitoplasty and gonadectomy may be considered. Accruing evidence of poor functional and cosmetic outcomes following feminising surgery in infancy has lead to resistance to the traditional paradigm of early surgery. The risk of malignancy in women with XY DSD remains largely unknown, however gonadectomy remains the standard of care in those at highest risk.Clinical implications: Terms such as intersex, sex reversal should and hermaphroditism should no longer be used. Patients with a DSD should be managed by an experienced multidisciplinary team. Consideration should be given to deferring irreversible interventions in infants and children with DSD until the patient can participate in decision-making. Open issues for further research: Long-term psychosexual and functional outcomes in women with DSD following early or delayed feminising surgery and malignancy rates in various forms of XY DSD.