Chapter 383: Disorders of Sex Development

INTRODUCTION

Sex development begins in utero but continues into young adulthood with the achievement of sexual maturity and reproductive capability. The major determinants of sex development can be divided into three components: chromosomal sex, gonadal sex (sex determination), and phenotypic sex (sex differentiation) (Fig. 383-1). Variations at each of these stages can result in disorders (or differences) of sex development (DSDs) (Table 383-1). In the newborn period, ~1 in 4000 babies undergo investigation because of ambiguous (atypical) genitalia. Urgent assessment is indicated, because some causes such as congenital adrenal hyperplasia (CAH) can be associated with life-threatening adrenal crises. Support for the parents and clear communication about the diagnosis and management options are essential. The involvement of an experienced multidisciplinary team is important for counseling, planning appropriate investigations, and discussing long-term well-being. DSDs can also present at other ages and to a range of health professionals. Subtler forms of gonadal dysfunction (e.g., Klinefelter’s syndrome [KS], Turner’s syndrome [TS]) often are diagnosed later in life by internists. Because these conditions are associated with a variety of psychological, reproductive, and potential medical consequences, an open dialogue must be established between the patient and health care providers to ensure continuity and attention to these issues across the life span (Table 383-2). Support groups also have an important role to play for many of these conditions.