Disorders of sexual differentiation

Diseases associated with disordered sexual differentiation have long fascinated clinicians and basic scientists alike, but the formulation of a satisfactory philosophy regarding the classification and management of these problems has always been hampered somewhat by a lack of understanding of the basic mechanisms underlying many of them. Decisions have been based more on morphologic impressions than on any real appreciation of the pathophysiologic processes involved. Over the past several years, however, new developments, particularly those of a biochemical nature, have provided new insight into the nature of these disorders so that many of the standard references on the subject are no longer reliable. This article is oriented primarily toward the clinical aspects of the problem and includes a review of the current concepts of normal and abnormal sexual differentiation, a classification of these disorders with a brief description of each, and some general comments about diagnostic approaches and philosophy of management.