Davies JH, Knight EJ, Savage A, Brown J, Malone PS. J Pediatr Urol. 2011 Aug; 7(4):412-5

DOI:10.1016/j.jpurol.2010.07.004

Abstract  

OBJECTIVE: The terminology used to describe abnormalities of sex determination and sex differentiation was revised in 2006. It was anticipated that new terms, such as ‘disorders of sex development’ (DSD), would improve communication between health professionals, aid parental understanding and be acceptable to affected individuals. The purpose of this study was to evaluate the success of the new terminology.

SUBJECTS AND METHODS: Using a questionnaire, we evaluated the acceptance of these new terms by parents of children with a DSD (n = 19) , health professionals (n = 15) and parents of unaffected children (n = 25).

RESULTS: Comparing the term ‘DSD’ to ‘intersex’, overall 86.4% of participants preferred the term ‘DSD’, and parents of a child with a DSD had an even higher preference (94.7%). Parents of an affected child considered the new term to improve their understanding of their child’s condition (83.3%), and to aid explanation by parent to affected child (82.4%) and to wider family and friends (84.2%). Health professionals preferred the genotype-based terms, whereas parents considered these terms confusing. Overall, 59.3% of participants agreed DSD was an acceptable new term.

CONCLUSIONS: There was broad support for the new terminology by parents and health professionals. The description ‘disorder of sex development’ may be helpful to parents at the time when it is not possible to assign gender, after which aetiologically based diagnoses should be used where possible.

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Summary 

This article evaluates the opinions of a heterogeneous group of parents and healthcare providers regarding the relative desirability of the newly introduced disorders of sex development (DSD) nomenclature over that of ‘intersex’ and related terms such as ‘hermaphroditism’ and ‘male/female pseudohermaphroditism’. Although diagnostic nomenclature can serve as a device to facilitate scientific progress, it can also influence the perceptions of those affected and the general population about the meaning of the condition. It is relatively rare that scientists or healthcare providers examine the ‘naming’ preferences as one aspect of delivering optimal care and quality-of-life outcomes for patients.

DSD, a superordinate term encompassing “congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical” {1}, has been adopted by healthcare providers and scientific journals with a speed rarely observed. The new nomenclature does away with the simplifying notion that gonads are the chief parameter defining sex. The other major modification was removal of references to gender in the diagnostic nomenclature in order to avoid terminology such as ‘male/female pseudohermaphroditism’, which is potentially psychologically disturbing to the patient and their family.

The current investigators sought to evaluate whether the new terminology is preferable to providers and ‘consumers’. An overwhelming majority of parents of children affected by a DSD (95%) preferred the new terminology and considered ‘DSD’ to be a better descriptive term and less offensive than ‘intersex’. However, parents felt associated categories such as 46XY DSD and 46XX DSD could lead to misinterpretation, whereas healthcare providers believed these terms enhance understanding.

Naming things is a serious business. All too often, patients incorporate their diagnosis into their identity as observed in protests by some affected persons who resist any label with ‘disorder’ in it {2}. The hope is that, overall, DSD nomenclature will enhance communication among scientists, healthcare providers, patients, their families and the general population in ways that demystify and destigmatize these conditions.

In a related vein, although the consensus conference that yielded DSD terminology {1} potentially represented a watershed event, there have since been developments which bring into question the complete acceptance of the new terminology by scientists and providers. For example, in 2007, the European Society for Paediatric Endocrinology (ESPE) published a classification of pediatric endocrine diagnoses that included the category of DSD and subcategories of sex chromosome DSD, 46XY DSD, 46XX DSD, and ‘unclassified forms of abnormal sexual development/anatomical disruptions’ {3}. However, this nomenclature excluded from the category of sex chromosome DSD “disorders of gonadal differentiation that do not result in sex reversal/virilised female infant/undervirilised male”, including Klinefelter syndrome and Turner syndrome. The exclusion of these conditions implies that atypical genital appearance is the sine qua non of DSD. If such reasoning is accepted, then women with XY pure gonadal dysgenesis, who have normal external genitalia; males who are XX caused by a translocation of SRY, who often have normal male genitals; and even individuals with ‘complete androgen insensitivity syndrome’, who appear at birth with normal female genitalia; should similarly be excluded. DSD is not about ‘ambiguous genitalia’ {4}. As noted earlier, one of the reasons why the term ‘intersex’ was set aside was its vague meaning. Despite substantial progress in clarifying terminology, there remain misunderstandings and disagreements among scientists and healthcare providers that unfortunately will result in confusion for patients and their families.

References