Gender Identity in Disorders of Sex Development

Leanna W. Mah, Yvonne Y. Chan, Jennifer H. Yang

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations


Disorders of sex development (DSD) are rare conditions that often create challenging circumstances for patients, their families, and health care providers. Our understanding of the management of DSD has significantly evolved over the last century as new studies have shed light on the topics of psychosexual development and gender identity. The new knowledge has further changed our approaches toward the care of patients with DSD. The aim of this chapter is to review the history of DSD, our current understanding of psychosexual development, and the management of gender identity, gender assignment, and surgical interventions in patients with DSD as well as other congenital anomalies that commonly present with ambiguous genitalia. Through a review of the literature and discussion of more common forms of DSD, including congenital adrenal hyperplasia and androgen insensitivity syndrome, we intend to further explore the controversies behind gender identity in this unique population.

Original languageEnglish (US)
Title of host publicationPrinciples of Gender-Specific Medicine
Subtitle of host publicationGender in the Genomic Era: Third Edition
Number of pages17
ISBN (Print)9780128035061
StatePublished - May 15 2017
Externally publishedYes


  • Ambiguous genitalia
  • Androgen insensitivity syndrome
  • Congenital adrenal hyperplasia
  • Disorders of sex development
  • Gender assignment
  • Gender dysphoria
  • Gender identity
  • Hermaphroditism
  • Intersex
  • Psychosexual development

ASJC Scopus subject areas

  • Medicine(all)


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