medicine has undergone considerable upheaval in the past few years over
the treatment of children with disorders of sexual differentiation.
There have been challenges to all aspects of traditional practice,
including sex assignment, genital surgery, the role of the patient and
parents in decision-making, disclosure of medical details, the
composition of the treatment team, and nomenclature. These challenges
have been met with serious attention by pediatricians and other health
professionals involved in the care of these children, and there has been
considerable discussion of the merits of changes to current practice.1-8
This report considers the status of the evidence relevant to treating
children with intersex conditions, with particular emphasis on
psychological and methodological issues.
years, treatment of children with intersex conditions was guided by the
belief that gender identity results from social rearing rather than
biological factors, provided that gender-confirming genital surgery is
done early in life.9,10 Although there have always been
questions about this policy, anecdotal evidence generally suggested that
it produced good outcome.11,12 The policy and the evidence
used to support it have recently been subject to detailed scrutiny
because of several well-publicized reports. This includes a case of
ablatio penis raised female who was unhappy with the assigned sex,13,14
conference reports of XY males with absent or malformed penis due to
cloacal exstrophy reared as females who declare themselves to be boys,15
and reports of adverse outcomes from intersex patients.16,17
issues have emerged from recent discussions (Table 1). The focus has
been on sex assignment and genital surgery, with traditional treatment
and challenges often seen in polar terms (Table 2). Discussions have
often been acrimonious, and recommendations based on personal beliefs or
anecdotes, although it is clear that the interests of patients are best
served by careful application of evidence.
REGARDING SEX ASSIGNMENT
Determinants of Gender Identity
regarding sex assignment require recognition of the complexity of gender
identity. Gender identity cannot be simply predicted from any single
factor; neither is it always consistent with sex of rearing, nor is it
simply related to extent of prenatal hormone exposure. The publicized
individual with ablatio penis14 was reared as a boy early in
life and it is unclear how this contributed to his gender identity.
Another individual with a similar history but with earlier female
reassignment had a different outcome, particularly female gender
identity.18 To date, there have been no published systematic
studies of individuals with cloacal exstrophy, and case reports indicate
variations in gender identity, with no clear indication of the
percentage who identify as males or are unhappy as females.19,20
systematic evidence regarding gender identity comes from two conditions.
Females with congenital adrenal hyperplasia (CAH) overwhelmingly
identify as female.21-23 The very
small minority of females with CAH who are unhappy as females or live as
males are not necessarily those with the greatest genital virilization
or the most prenatal androgen excess. Males with micropenis have not
been studied as extensively as females with CAH, but they identify as
males when reared that way and appear to function well.24,25
little systematic evidence to guide decisions about sex assignment in
other intersex conditions.20 Recent studies of individuals
with micropenis and those with ambiguous genitalia with perineoscrotal
hypospadias of varying etiology suggest that gender identity is
generally consistent with sex of rearing.26,27
But, for several reasons, caution is necessary when generalizing from
these studies. First, a substantial proportion of
participants (about 25%) were dissatisfied or questioned their
sex of rearing. Second, as is typical of retrospective studies, patients
who were dissatisfied or atypical were probably underrepresented: 30% of
eligible patients did not participate and some participants elected not
to answer sensitive questions. Third, outcome was assessed with a few
items of unknown sensitivity. Fourth, those reared as boys were
subjected to more surgery than those reared as girls.
Recommendations Regarding Sex Assignment
assignment for an intersex child is one of the most difficult decisions
made by parents and health professionals, though it is natural to seek
simple solutions. But just as it is no longer tenable to assume that
gender identity is always consistent with the sex of rearing, evidence
indicates that it is equally unwise to consider gender identity to
result directly from fetal androgen exposure (inferred from genital
appearance or another indicator). Although other aspects of behavior may
relate to degree of fetal androgen exposure, gender identity does not.
For example, among females with CAH, degree of prenatal androgen
exposure (inferred from genetic mutation, salt-wasting status, and
degree of genital virilization) is moderately associated with interest
in boy-typical activities and sexual orientation.23,28-30
but not gender identity.21-23 Therefore, it is crucial to
separate aspects of outcome (Table 3).
sufficient evidence to suggest that 46,XX CAH
patients be reared as girls, given the documented good outcomes
associated with such rearing. Nevertheless, there are no systematic
studies of those reared as boys. It is reasonable to suggest that 46,XY
micropenis patients be reared as boys, given the small studies of good
outcomes in such cases and the need for surgery with rearing as girls,
but it would be helpful to have more evidence comparing quality of life
and sexual function in those reared as boys vs. girls. In all other
cases, decisions will need to be made with the limited information
available from case reports. All children should be assigned as boys or
girls. Rearing children as intersex is not advocated by health
professionals or activist organizations (including ISNA). Parents and
health professionals should realize that an intersex individual may
elect to change gender later in life. The accuracy of the sex assignment
can only be judged by the patient. It is essential to recognize that
gender identity is not synonymous with gender-role behavior or sexual
orientation, so that childhood tomboy behavior in girls or homosexuality
should not be taken as indications of incorrect sex assignment.
regarding genitoplasty should be considered in light of the evidence
regarding the stated need for surgery. Current practice is predicated on
several assumptions: (1) sex-typical genital appearance is necessary for
gender identity development consistent with rearing sex and for healthy
psychological adjustment; (2) adjustment is hindered by
unusual-appearing genitalia, through disruption in parent-child bonding,
reactions from caretakers and peers, and difficulty in forming sexual
relationships; (3) corrected genitalia are necessary for sexual
activity, particularly intercourse. But some intersex patients as adults
have complained that surgery does not prevent problems and may actually
exacerbate them, because of adverse cosmetic and functional outcomes
from surgery. These critics further contend that problems arise from the
undue focus on the genitalia and not their appearance per se.
surgical outcomes most often studied have been genital appearance and
adequacy of genitalia for peno-vaginal
intercourse. But the assumptions behind surgery and the concerns of
patients make it clear that other outcomes need to be considered,
particularly those related to the quality of sexual experience,
including sensitivity and satisfaction, and general quality of life
Outcomes of Surgery
no systematic outcome data regarding genital appearance and sexual
function, especially for current surgical procedures. There are reports
of suboptimal cosmetic outcome and self-reported sexual function, but
they are based on limited assessments of selected patients with surgery
of varying quality.26,27,31
Therefore, it is difficult to know how surgery affects sexual function,
and the factors that account for variations across individuals. Measures
of clitoral responsivity suggest normal nerve conduction after surgery,32
but it is unclear whether this translates into normal sensitivity. It is
also important to remember that intercourse is only one part of sexual
activity, and surgery to facilitate intercourse might compromise
optimism that current techniques used by skilled surgeons produce better
cosmetic and functional outcomes now than in the past,33
but confirming evidence is essential. Outcome studies require detailed
assessments and comparisons with subjects without intersex conditions,
given the complexity of sexual response, the variations in arousal and
orgasm among typical individuals without genital surgery,34
and the limitations of self-report in assessing sexual response.35
Psychological Impact of Genital Appearance
physicians and intersex advocates are concerned about psychological
problems associated with intersexuality. Physicians suggest that
children who look different will have difficulty forming a coherent
self-concept, including gender identity, and receive negative reactions
from others, with adverse effects on adjustment and life satisfaction.
Some intersex advocates argue that problems result from stigma and shame
induced by messages from physicians and parents that atypical genitalia
of concerns have been empirically validated – or refuted. There are no
data showing the relative importance or unimportance of normal-appearing
genitalia for psychological outcome. The existence of gender dysphoria
in individuals with and without intersex conditions indicates that
normal-appearing genitalia are not sufficient for gender identity
consistent with rearing sex, but there is no systematic study of the
role (if any) that genital appearance plays in the development of gender
identity. It is widely believed that boys with a small penis are teased,
causing poor peer relationships and adjustment problems. Although this
has not been systematically studied, males with micropenis appear to do
well.24,25 Relevant data from boys with hypospadias who had
received genital surgery show psychological adjustment similar to that
of control boys, with little relation between adjustment and genital
appearance, but depression is associated with more surgery and
from individuals with other physical conditions reinforces the complex
contributors to outcome. Problems in individuals with intersex
conditions might not arise from specific aspects of the condition or
treatment itself, but from the stresses they impose on the patient and
the family.37 Children’s stress may arise from their own
experiences, such as surgery, repeated physical exams and
hospitalizations, responses to their unusual genital appearance, or from
changes in parent-child interactions brought about by parents’ stress.
Parent stress may be independent of the child’s physical illness or may
result from it, for example, from concerns about the child’s genital
appearance, responsibilities of caring for a sick child, or financial
burdens brought about by the child’s illness. Additional risk may arise
from children’s problems with peer relationships,38
but even here the cause is not simple. Peer problems are affected by
more than physical appearance, such as frequent school absences and
Furthermore, the association between peer relationships and adjustment
is bidirectional: poor peer relations place a child at psychological
risk, but poorly adjusted children have difficulty making friends to
Psychological Outcome in Intersexuality
are many paths by which mental health might be affected in individuals
with intersex conditions, but there is no evidence regarding any of
them. Further, there is surprisingly little evidence about the ultimate
mental health outcomes hypothesized to be affected by these paths,
primarily because such studies are difficult. Scientific studies may
undersample individuals with problems, but
reports from intersex activists may overrepresent
those with problems.40
systematic evidence regarding mental health in intersex individuals
comes from females with CAH. Several studies show that their mental
health is not different than that of controls, although they may have
specific problems with body image and psychosexual function.41-46
There are not enough data to know whether
outcome is related to genital appearance or surgery.
results on good adjustment might be surprising in light of assumptions
described above. However, they are consistent with evidence that chronic
illness, trauma, and other adverse life events have only transient
effects on adjustment in the majority of people. Among individuals with
a variety of physical disabilities (including quadriplegia), there is
often an immediate period of depression, but after a short period (weeks
to months), most report positive well-being.47,48
mismatch between expectation and evidence is an example of the tendency
to attribute outcome to the cause that is most salient, in this case,
the appearance of the genitalia or the intersex condition itself. But,
outcome is influenced by many factors, including temperament and life
circumstances. People are not accurate at predicting factors that
influence life satisfaction in others because they only focus on a small
set of contributors.49 This means
that attributions about problems among intersex individuals must be
Recommendations Regarding Surgery
The lack of
systematic outcome data makes decisions about genital surgery very
difficult. There are insufficient data regarding the functional
consequences of genital surgery, but there are also insufficient data
regarding the effects on a child of living with atypical genitalia. It
is likely that the effects of both genital surgery and genital
appearance are not the same for all individuals. Perceptions of and
responses to the situation may be more important than its objective
nature, and psychological support may help families develop coping
strategies to foster mental health. It is important to remember that
decisions should be made in the best interests of the child and not the
discussions surrounding the treatment of children with intersex
conditions have crystallized the assumptions and evidence underlying
treatment. Changes to treatment must be informed by evidence or,
consequently, dilemmas will arise again. Despite gaps in the evidence
regarding outcome, there is some information available to guide
assignment cannot be based on the assumption that gender identity is
determined by either sex of rearing or degree of fetal androgen
exposure. Most individuals with 46,XX CAH do
well when reared as girls, but there are no systematic studies of those
reared as boys. Most individuals with 46,XY
micropenis appear to do well when reared as boys, but this approach
should be viewed cautiously until there is more evidence about
psychological and sexual outcome with male vs. female rearing. There is
insufficient evidence regarding other causes of intersexuality and
cloacal exstrophy, but all children should be assigned as girls or boys,
with the recognition that some may change gender later in life.
decisions about surgery would benefit from systematic evidence regarding
functional outcome of current procedures and consequences of atypical
genitalia. Sexual function involves more than cosmetic appearance and
the ability to have intercourse. Given the dearth of evidence,
assumptions and biases should be clearly articulated to families.
there is a pressing need for additional systematic evidence that
addresses the complex determinants of psychological outcome. It is not
sufficient to examine outcome only in relation to characteristics of the
intersex condition and its treatment. There must be recognition and
consideration of the child’s temperament, family situation, culture in
which the child lives, and benefits of psychoeducational interventions
to reduce stress and facilitate coping.
itself must be defined from the perspective of the patient, and include
quality of life. The components of outcome are not interchangeable
translation of findings to treatment requires that studies meet
important methodological criteria regarding sampling, assessment, and
inferences consistent with the limitations of the methodology (Table 4).
It is important to avoid being swayed by studies that support
preconceptions or provide simple solutions.
debates have improved treatment of children with intersex conditions by
forcing an articulation of assumptions and examination of evidence.
Resolution of current controversies requires a commitment to
evidence-based care and a recognition that outcome in intersexuality
cannot be simply predicted from medical factors alone.
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