Consequences of the ESPE/LWPES guidelines for diagnosis and treatment of disorders of sex development

Abstract

Ambiguous genitalia of the newborn is the paradigm of a disorder of sex development that demands a multidisciplinary team approach to management. The problem is immediately apparent at birth. Abnormalities of the external genitalia sufficient to warrant genetic and endocrine studies occur in one in 4500 births. In recent decades there have been improvements in diagnosis and early management, particularly with respect to congenital adrenal hyperplasia, the commonest cause of ambiguous genitalia of the newborn. However, dissatisfaction with overall management remains. A Clinical Guidelines and Handbook for Parents generated by a partnership of health professionals and support groups is available on the internet. The professional societies representing paediatric endocrinology responded by organizing a consensus meeting on the management of intersex. This resulted in the publication of a Consensus Statement encompassing many aspects of management, extending from birth to adulthood.