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The birth of an intersex child prompts a long-term management strategy that involves myriad professionals working with the family. There has been progress in diagnosis, surgical techniques, understanding psychosocial issues, and recognizing and accepting the place of patient advocacy. The Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology considered it timely to review the management of intersex disorders from a broad perspective, review data on longer-term outcome, and formulate proposals for future studies. The methodology comprised establishing a number of working groups, the membership of which was drawn from 50 international experts in the field. The groups prepared previous written responses to a defined set of questions resulting from evidence-based review of the literature. At a subsequent gathering of participants, a framework for a consensus document was agreed. This article constitutes its final form.
NOMENCLATURE AND DEFINITIONS
Advances in identification of molecular genetic causes of abnormal sex with heightened awareness of ethical issues and patient advocacy concerns necessitate a reexamination of nomenclature.1 Terms such as “intersex,” “pseudohermaphroditism,” “hermaphroditism,” “sex reversal,” and gender-based diagnostic labels are particularly controversial. These terms are perceived as potentially pejorative by patients2 and can be confusing to practitioners and parents alike. We propose the term “disorders of sex development” (DSD), as defined by congenital conditions in which development of chromosomal, gonadal, or anatomic sex is atypical.
The proposed changes in terminology are summarized in Table 1. A modern lexicon is needed to integrate progress in molecular genetic aspects of sex development. Because outcome data in individuals with DSD are limited, it is essential to use precision when applying definitions and diagnostic labels.3,4 It is also appropriate to use terminology that is sensitive to the concerns of patients. The ideal nomenclature should be sufficiently flexible to incorporate new information yet …
Address correspondence to Peter A. Lee, MD, PhD, Department of Pediatrics, MC-085, Penn State College of Medicine, Milton S. Hershey Medical Center, Box 850, 500 University Dr, Hershey, PA 17033-0850. E-mail: plee{at}psu.edu
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