Abstract
Variables that impact gender development in humans are difficult to evaluate. This difficulty exists because it is not usually possible to tease apart biological influences on gender from social variables. People with disorders of sex development, or DSD, provide important opportunities to study gender within individuals for whom biologic components of sex can be discordant with social components of gender. While most studies of gender development in people with 46,XY DSD have historically emphasized the importance of genes and hormones on gender identity and gender role, more recent evidence for a significant role for socialization exists and is considered here. For example, the influence of parents' perceptions of, and reactions to, DSD are considered. Additionally, the impact of treatments for DSD such as receiving gonadal surgeries or genitoplasty to reduce genital ambiguity on the psychological development of people with 46,XY DSD is presented. Finally, the role of multi-disciplinary care including access to peer support for advancing medical, surgical and psychosexual outcomes of children and adults with 46,XY DSD, regardless of sex of rearing, is discussed.
Highlights
For the past 2 decades, medical and surgical treatment approaches for managing 46,XY disorders of sex development (DSD) have received intense scrutiny: rst from patient advocates followed by healthcare providers, researchers, and academics [1,2,3,4,5,6,7]
A greater appreciation for the impact of hormones on behavior, unsatisfactory surgical outcomes related to DSD, and patient advocate positions have resulted in a reappraisal of medical and surgical treatments for DSD
One important component of this reappraisal is a call for better understanding of gender identity (GI) and gender role (GR) development in individuals with 46,XY DSD, as well as an appreciation of the multiple factors beyond genes and hormones that contribute to psychosexual development
Summary
For the past 2 decades, medical and surgical treatment approaches for managing 46,XY disorders of sex development (DSD) have received intense scrutiny: rst from patient advocates followed by healthcare providers, researchers, and academics [1,2,3,4,5,6,7]. A second cause of 46,XY DSD is the inability of the testes, as a result of one of several possible enzyme de ciencies, to produce hormones necessary for typical development of male external genital structures, Wolffian ducts, and/or suppression of the Müllerian ducts [16,17,18]. Examples of this group of Scienti ca. Patients are o en grouped together for study if they are born with female versus ambiguous external genitalia despite the fact that their DSD may result from any number of causes ranging from target tissue insensitivity to androgens, to androgen biosynthetic defects due to enzyme de ciencies, to gonadal dysgenesis
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