Disorders of sex development

Abstract Disorders of sex development (DSDs) comprise a spectrum of congenital disorders where the development of chromosomal, anatomical (external or internal genitalia), or gonadal sex is atypical. Genital ambiguity at birth produces a tension between the need for an accurate diagnosis and parental urgency for certainty of gender. Clarification of type, determination of sex of rearing, and subsequent management decisions can be complex. This necessitates early involvement of an expert team of specialists with good communication skills. Gender assignment is based on multiple factors, including genital appearance, the underlying diagnosis, surgical options, the need of lifelong replacement therapy, potential for fertility, views of the family, and cultural background. The most common DSD is congenital adrenal hyperplasia (CAH) from 21-hydroxylase deficiency. In CAH, salt-wasting syndrome must be prevented, and treatment with glucocorticoids and mineralocorticoids started immediately. The indications for surgical intervention have been controversial, but our better understanding of the physiological, anatomical, and psychosocial implications of this disparate group of abnormalities is allowing a more considered approach to long-term management.