Disorders of Sex Differentiation: A Pediatric Urologist's Perspective of New Terminology and Recommendations

Abstract

In 2005 medical and lay experts convened (the Chicago Consensus), and reviewed and updated nomenclature and treatment recommendations in individuals with congenitally atypical gonadal, chromosomal or anatomical gender. This review summarizes, analyzes and considers the implications of these recommendations in pediatric urology practice. Publications identified in a PubMed® search of 2000 to 2010 as well as relevant prior reports of new concepts and trends in the diagnosis of and treatment for intersex/ambiguous genitalia/disorders of sex differentiation, and responses to the Chicago Consensus were reviewed. In response to concerns regarding outdated, confusing and/or controversial terms, such as "intersex," "hermaphroditism" and "sex reversal," the consensus statement recommended a new taxonomy based on the umbrella term, "disorders of sex differentiation." Additional categorization based on sex chromosome complement was recommended but not clearly defined and variously interpreted. Routine use of multidisciplinary diagnostic and expert surgical teams, continuing psychosocial and psychosexual care, and full disclosure of alternatives relating to surgery type and timing were recommended. Early gender assignment was advocated but evidence-based guidance to support some aspects of care of affected individuals was insufficient. Pediatric urologists should remain abreast of new data refining the diagnoses and outcomes of disorders of sex differentiation, and ensure that their patients have access to multidisciplinary resources. Major changes in classification and expectations in the care of individuals with disorders of sex differentiation have occurred in recent years. Increasing focus on determining precise etiology and defining objective outcomes will help more clearly determine appropriate management and prognosis for this heterogeneous group of disorders.