Differences/Disorders of Sex Development: Medical Conditions at the Intersection of Sex and Gender

Abstract

Defined as congenital conditions in which development of chromosomal, gonadal, or anatomic sex is atypical, differences or disorders of sex development (DSDs) comprise many discrete diagnoses ranging from those associated with few phenotypic differences between affected and unaffected individuals to those where questions arise regarding gender of rearing, gonadal tumor risk, genital surgery, and fertility. Controversies exist in numerous areas including how DSDs are conceptualized, how to refer to the set of conditions and those affected by them, and aspects of clinical management that extend from social media to legislative bodies, courts of law, medicine, clinical practice, and scholarly research in psychology and sociology. In addition to these aspects, this review covers biological and social influences on psychosocial development and adjustment, the psychosocial and psychosexual adaptation of people born with DSDs, and roles for clinical psychologists in the clinical management of DSDs.

Keywords: DSD; differences of sex development; disorders of sex development; intersex; psychological adaptation.

Figure 1

Simplified overview of sex determination and sex differentiation in humans. Figure provided by Eric Vilain, MD, PhD.

Figure 2

Differentiation of the female and male genital reproductive structures from the primordial Wolffian and Müllerian structures. Figure adapted with permission from Chan et al. (2020).

Figure 3

Differentiation of the male and female external genitalia. Figure adapted with permission from Chan et al. (2020).