Approach to assigning gender in 46,XX congenital adrenal hyperplasia with male external genitalia: Replacing dogmatism with pragmatism

Christopher P. Houk, Peter A. Lee

Research output: Contribution to journalReview articlepeer-review

75 Scopus citations

Abstract

The goal of sex assignment is to facilitate the best possible quality of life for the patient. Factors such as reproductive system development, sexual identity, sexual function, and fertility are important considerations in this regard. Although some DSD gender assignments are relatively straightforward, those with midstage genital ambiguity and unclear gonadal function represent a major challenge. A recent major change in DSD care has been to encourage a male assignment for 46,XY infants with ambiguous genitalia who have evidence of testicular function and in utero central nervous system androgen exposure. In contrast, assignment of virilized 46,XX DSD patients remains female when ovaries and internal organs are present, regardless of the extent of virilization of the external genitalia. In this paper, we propose consideration of male assignment for these 46,XX patients who have fully developed male genitalia based on available outcome data.

Original languageEnglish (US)
Pages (from-to)4501-4508
Number of pages8
JournalJournal of Clinical Endocrinology and Metabolism
Volume95
Issue number10
DOIs
StatePublished - Oct 2010

All Science Journal Classification (ASJC) codes

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Endocrinology
  • Clinical Biochemistry
  • Biochemistry, medical

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