1. Dilemma of the preexisting nomenclature
Advances in understanding the molecular genetic causes of abnormal sexual development and heightened awareness of the ethical and patient-advocacy issues mandated a reexamination of preexisting nomenclature . Terminologies such as intersex, hermaphroditism, and pseudohermaphroditism are controversial; potentially pejorative to patients; and confusing even to urologists . Therefore, the term DSD was proposed to indicate congenital conditions with atypical development of chromosomal, gonadal, or anatomic sex. A classification is proposed in which DSDs associated with sex chromosome abnormalities (sex chromosome DSD) were separated from DSDs with a normal chromosome complement (46,XX DSD and 46,XY DSD). The stigmatizing term intersex has thus been replaced by a more general and descriptive term, DSD.
2. New classification based on Chicago consensus
Table 1 summarizes the new taxonomy and Table 2 shows the application of the new nomenclatures in clinical situations. Although DSD may be useful as a more global term, these general subcategories seem too nonspecific and less useful to specific clinical situations. Adding diagnostic specificity to the comprehensive DSD definition utilizes knowledge of the karyotype, which is based on recognizing the central role of karyotype analysis in the investigation of DSDs. Subsequently, the confusing mythological term pseudohermaphroditism is replaced. The original summary publications of the Chicago Consensus have not provided precise classifications of the DSDs; therefore, inconsistency exists between the DSD classifications used by each investigator. Further clinical classification based on a primary genetic defect is preferred when available because these could more clearly predict disease-specific outcomes. Although there are potential criticisms to the new nomenclature, the DSD terminology has been generally accepted and is now popularly used in the literature. This term DSD is seen in conferences, in the scientific literature, and even in text books of endocrinology. For example, the International Society for Hypospadias and Intersex Disorders titled its World Congress “Hypospadias and Disorders of Sex Development.”