Long-Term Psychosexual Development in Genetic Males Affected by Disorders of Sex Development (46,XY DSD) Reared Male or Female

Abstract

The medical, surgical and psychosocial management of individuals affected by disorders of sex development (DSD) is currently under scrutiny. Patients who possess a 46,XY chromosomal complement (i.e., those affected by 46,XY DSD) pose particular challenges to healthcare professionals because this group is most likely to report dissatisfaction with their sex of rearing as they progress from childhood through adulthood. The current review examines satisfaction with sex of rearing, degree of concordance between masculine/feminine behavior and sex of rearing, and sexual orientation in adults affected by 46,XY DSD, reared male or female. Such individuals may present with female external genitalia, ambiguous external genitalia or a micropenis. The impact of potentially confounding variables such as physical health, fertility and sexual function on psychosexual development in persons affected by DSD is considered when such data are available. Finally, observations from non-DSD clinical populations and animal models are discussed, including their appropriateness for informing healthcare professionals about behavioral outcomes in DSD patients. Rodent models that support the aromatization hypothesis or the independent influence of genes on the Y chromosome for brain/behavior masculinization do not generalize to human psychosexual development; however, the nonhuman primate literature is more instructive for understanding the direct impact of androgens on human gender development. Finally, discussion pertaining to the predominance of male gender development in cases of 5α-RD-2 and 17β-HSD-3 deficiencies is offered. Keywords: Intersex, DSD, gender, disorders of sex development, androgen insensitivity, gonadal dysgenesis, testosterone biosynthetic defect, ambiguous genitalia