Journal of Pediatric Urology (2011) 7, 412e415

Evaluation of terminology used to describe

disorders of sex development
J.H. Davies a,*, E.J. Knight a, A. Savage b, J. Brown c, P.S. Malone d

a
Paediatric Endocrinology, Southampton University Hospitals NHS Trust, Tremona Road, Southampton, UK, SO16 6YD
b
Clinical Child Psychology, Southampton Community Health Care Trust, Southampton, UK
c
Child Psychiatry, Southampton University Hospitals NHS Trust, Southampton, UK
d
Paediatric Urology, Southampton University Hospitals NHS Trust, Southampton, UK

Received 3 April 2010; accepted 13 July 2010

Available online 14 August 2010

KEYWORDS Abstract Objective: The terminology used to describe abnormalities of sex determination
Disorders of sex and sex differentiation was revised in 2006. It was anticipated that new terms, such as ‘disor-
development; ders of sex development’ (DSD), would improve communication between health professionals,
Intersex; aid parental understanding and be acceptable to affected individuals. The purpose of this
Nomenclature; study was to evaluate the success of the new terminology.
Taxonomy Subjects and methods: Using a questionnaire, we evaluated the acceptance of these new
terms by parents of children with a DSD (n Z 19), health professionals (n Z 15) and parents
of unaffected children (n Z 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 profes-
sionals. 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.
ª 2010 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

* Corresponding author. Tel.: þ44 02380 796985; fax: þ44 02380 795230.
E-mail address: justin.davies@suht.swest.nhs.uk (J.H. Davies).

1477-5131/$36 ª 2010 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.
doi:10.1016/j.jpurol.2010.07.004
Evaluation of DSD terminology
Adults affected by abnormalities of sex determination and
differentiation are often not satisfied with their knowledge
of their underlying medical condition. Statements from
patient activist groups and research studies have also sug-
gested that such individuals consider they have been poorly
informed of their medical and surgical histories by their
physicians and parents [1,2]. Of interest is that those with
a greater understanding of their clinical history had improved
satisfaction regarding knowledge of their condition [1].
Although it is likely that many factors have led to these
concerns, a contributing factor may have been the nomen-
clature used to describe various disorders, which could have
hindered communication between health professionals,
parents and affected individuals.
The terminology used to describe causes of ambiguous
genitalia has evolved as a better understanding of the aetiol-
ogies has developed, but the nomenclature has always been
problematic and sometimes controversial. In 1896, Blacker
and Lawrence proposed definitions based on gonadal
histology, and individuals with ovotestes were labelled as
‘hermaphrodites’ [3]. At this time, there was alarm among the
general public at the existence of this diagnosis, and in
response others tried to eliminate the term on the grounds that
no individual could have both male and female functioning
gonadal tissues [3]. In 1923, an umbrella term ‘intersex’ was
introduced, and with it came the concept of individuals being
between the two standard genders [4]. Currently, two genders
are considered the norm, and some consider a necessity for
social order, and a proposed third gender is not a realistic
option in Western society [5]. Thus, uniquely, societal influ-
ences are important considerations when developing new
terminology in this area. Furthermore, some affected indi-
viduals and their parents’ perceived terms such as ‘intersex’
and ‘pseudohermaphrodite’ as derogatory labels, which had
a negative impact on their lives and caused difficulties in
discussions with the wider family and community.
In 2005, 50 international experts and two affected adults
proposed a new terminology and classification (Table 1) [6].
The term ‘disorders of sex development’ (DSD) was intro-
duced, and is defined as congenital conditions in which
development of chromosomal, gonadal or anatomical sex is
atypical. It was hoped that new terminology, such as DSD,
would improve communication between health profes-
sionals, aid parental understanding and be acceptable to
Table 1 Revised terminology in DSD.
Previous Revised 2006
Intersex Disorders of sex
development (DSD)
Male pseudohermaphrodite 46, XY DSD
Undervirilization of an XY male
Undermasculinization of an
XY male
Female pseudohermaphrodite 46, XX DSD
Overvirilization of an XX female
Masculinization of an XX female
True hermaphrodite Ovotesticular DSD
XX male or XX sex reversal 46, XX testicular
DSD
413
affected individuals, while at the same time reducing erro-
neous classification to provide better information on prog-
nosis and management. At presentation, the term DSD may
now be used as a starting point from which a diagnosis may
emerge, after which the definitive term for the diagnosis
assumes prominence. To date, these new terms have not
been evaluated. The purpose of this study was to evaluate
whether the new terminology introduced in 2006 represents
an improvement over previous nomenclature.
Methods
The study was approved by the Southampton and South
West Hampshire Research Ethics Committee and written
informed consent was obtained from participants. A ques-
tionnaire was distributed to three groups: parents of chil-
dren with a DSD presenting with ambiguous genitalia,
neonatal healthcare professionals, and parents of children
with diabetes mellitus who were not familiar with these
diagnoses. Parents of children with a DSD or diabetes
mellitus were invited to participate when attending the
regional DSD clinic or the local diabetes clinic, respectively.
Junior doctors and midwives at the regional neonatal unit
were invited to take part in the study and were not involved
with the ongoing care of children with a DSD.
Participants were initially given a study information
sheet and also a fact sheet containing a glossary of terms
(Appendix 1), and were asked to complete a questionnaire
(Appendix 2) only if they had understood the definitions.
Parents were then asked to complete the questionnaire,
which used a mixture of open and closed questions and was
designed with consideration of the local adult population’s
reading age. Responses were scored using a continuum
scale (0e10), where the individual marked their response
for or against the new terminology. Three questions were
specifically addressed: i) whether the term ‘disorders of sex
development’ had been accepted in preference to the term
‘intersex’, ii) whether ‘DSD’ is an acceptable term to
describe an individual’s overall condition when it had not
been possible to assign them male or female at birth, and
iii) whether the term ‘DSD’ will help individuals to under-
stand their condition? Participants were given a further
opportunity to provide reflective responses to the questions
in free text boxes. Further questions concerned the other
terms introduced in 2006. If parents of children with a DSD
considered it appropriate, they were invited to ask the
opinion of their child on the different terminologies.
Statistical analysis was carried out using the SPSS
statistical package (SPSS for windows V.16, SPSS, Chicago,
IL, USA). Comparisons were made between groups using the
ManneWhitney U-test and differences were considered
significant if P  0.05. In this study, a result showing no
statistical significance would indicate a response in which
all study groups had given the same or similar responses.
Results
Fifty-nine questionnaires were returned completed of the 75
distributed. These consisted of 19 parents of DSD individuals,
25 parents of diabetes mellitus individuals and 15 healthcare
professionals. This represented 100% completion by both
414 J.H. Davies et al.

health professionals and parents of children with diabetes,

and 54% by parents of children with a DSD. The key findings
are summarized in Table 2. Overall, 86.4% preferred ‘DSD’ to
the term ‘intersex’. There was a strong dislike for the word
‘intersex’ among the DSD parent group (Fig. 1). Of all
parents, 59.3% considered DSD to be an acceptable term to
describe individuals affected by such conditions. All groups
considered the term ‘DSD’ helpful in improving under-
standing and to aid explanation. Furthermore, 72.7% regar-
ded ‘DSD’ helpful in improving parental understanding. Ten
of the participants considered DSD to be less stigmatizing,
offensive and degrading in their open statements.
Not all the terms within the new nomenclature were
accepted so easily. The new terms ‘46, XY DSD’ and ‘46, XX
DSD’ were considered to be confusing by more than 40% of the
participants. Only 15% considered these terms to improve or
aid comprehension. Healthcare professionals preferred the
term ‘46, XY DSD’ when compared to parents of children with
diabetes (P < 0.01).
Participants reflected in their statements the importance Figure 1 Perception of the term ‘intersex’. Parents of chil-
of the way the condition was explained to the individual and dren with a DSD considered the term ‘intersex’ to cause
10 participants from various study groups considered the confusion. The dotted line at 2 indicates a response where the
change in terminology was not enough alone. A further three individual considers the term does not enhance or mislead
parents of children with a DSD considered the change in their understanding of the condition. A response towards 1
nomenclature to have little effect for them personally. One reflects a term that enhances understanding, whereas
parent of a child with a DSD stated: ‘The terminology used a response towards 3 reflects a term that is confusing and
makes no difference to my understanding of the condition. misleads the participant’s understanding of the condition.
Being told what exactly was wrong with my child and why it
happened was far more beneficial to me.’ Only one parent of
a child with a DSD did not like the term DSD. No parent of in the majority of European centres [7]. Of 60 participating
a child with a DSD wished to discuss the terminology with centres, 100% reported using the newly proposed terminology.
their child. Furthermore, the new nomenclature is increasingly used in
published literature [7]. Prior to the change in nomenclature,
Discussion it had been recognised that the difficulties in the management
of DSD were further complicated by the complexity of the
The recommendations from the 2006 Chicago consensus on terminology used, with the potential for miscommunication.
disorders of sex development have already been implemented It was therefore vital that new terminology avoided conflicting

Table 2 Responses of groups to terminology used in DSD.

Questionnaire statement Combined Parents of Parents of Healthcare
response children children with professionals
with a DSD diabetes mellitus
Recently the term ‘intersex’ has been changed 86.4% 94.7% 84.0% 80.0%
to the wording, ‘disorders of sexual development’. preference preference preference preference
Which term do you most prefer? for DSD for DSD for DSD for DSD
The new term ‘disorders of sex development’ is 59.3% agree 36.8% agree 68.0% agree 73.3% agree
an acceptable term to describe an individual’s
overall condition when it has not been possible
to assign them male or female at birth
It would make it easier for a parent to understand 72.7% agree 83.3% agree 62.5% agree 76.9% agree
their child’s condition using ‘disorder of sex
development’
It would make it easier for a parent to explain their 66.0% agree 82.4% agree 54.2% agree 66.7% agree
child’s condition to their child using ‘disorder of
sex development’
It would make it easier for a parent to explain their 70.9% agree 84.2% agree 62.5% agree 66.7% agree
child’s condition to their friends and family using
‘disorder of sex development’
Evaluation of DSD terminology
labels and improved communication between individuals with
a DSD, their families and health professionals [4].
In the current study, nearly 95% of parents of children
affected by a DSD showed a preference for the new termi-
nology, and the majority considered ‘DSD’ to be a better
descriptive term and less offensive than ‘intersex’. This
may suggest these parents were previously uncomfortable
with the term ‘intersex’. The results show that the
majority (72.7%) considered the term ‘DSD’ to improve
parental understanding at diagnosis. Most considered ‘DSD’
to enhance understanding, whilst ‘intersex’ might cause
confusion (Table 2).
Other terms within the new nomenclature have not been
as easily understood by parents, and the terms ‘46, XY DSD’
and ‘46, XX DSD’ led some to misinterpretation. Healthcare
professionals considered ‘46, XY DSD’ and ‘46, XX DSD’ to
enhance understanding, likely reflecting their better under-
standing of the use of genotypes.
Since the creation of the DSD terminology, some have
expressed disapproval for the label ‘Disorder’ [8]. Our results
showed that only 36.8% of parents of children with a DSD
considered the new term ‘disorders of sex development’
acceptable to describe an individual’s overall condition when
it was not possible to assign gender at birth. There has been
concern that the consensus statement had over-emphasized
the variations of sex development resembling ‘disorders’
which implied there was ‘something wrong’ that needed
surgical or medical correction [9]. This may inadvertently
convey that an individual was impaired due to a natural
variation in sex development and that they had a body that
required ‘fixing’. Previously, the term ‘intersex’ may have
been successful in the sense that it accepted a natural, bio-
logical diversity [8,10].
Conclusion
At the time of diagnosis of a DSD in a child, good communi-
cation between parents, health professionals and the wider
community is essential. Our findings suggest there is broad
support by parents and health professionals for the new
terminology. The new nomenclature may improve parent and
patient understanding, and health professionals considered
it better for diagnostic classification. Participants’ responses
recognised the importance for terminology to be versatile.
The new umbrella term, disorders of sex development, may
have achieved this, whereas the terms used for sub-classifi-
cation, such as 46, XY DSD, may be more useful for health
professionals. The term DSD may be helpful to parents as
a description, but not as a diagnostic label, at the time when
it is not possible to assign gender. After this time, specific
415
aetiologically based diagnoses should be used where
possible. We plan to evaluate the terminology in adults
affected by a DSD.
Funding
None.
Conflict of interest
The authors have no conflict of interest.
Appendix. Supplementary data
Supplementary data associated with this article can be
found in the online version, at doi:10.1016/j.jpurol.2010.
07.004.
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