66 Erratum

until later in life in the majority of cases. This should 15. Riepe FG, Krone N, Viemann M, et al: Management of
limit the total number of operations an individual will congenital adrenal hyperplasia: results of the EPSE ques-
undergo, reduce the substantial risk of fibrotic stenosis, tionnaire. Horm Res 2002; 58:96
provide patients with greater choice of vaginal enlarge- 16. Baskin LS, Erol A, Li YW, et al: Anatomical studies of
the human clitoris. J Urol 1999; 162:1015
ment interventions at adolescence and allow them to
17. Dittmann RW, Kappes ME, Kappes MH: Sexual behavior
be involved in the decisions. in adolescent and adult females with congenital adrenal
In addition, there is now emerging evidence of hyperplasia. Psychoneuroendocrinology 1992; 17:153
damage to future adult sexual function caused by clito- 18. May B, Boyle M, Grant D: A comparative study of sexual
ral reduction. In the absence of firm evidence that experiences. J Health Psychol 1996; 1:479
infant feminizing genital surgery benefits psychologi- 19. Minto CL, Liao LM, Woodhouse CRJ, et al: The effect of
cal outcome, the option of not performing infant genital clitoral surgery on sexual outcome in individuals who have
surgery must be discussed with the family. Truthful in- intersex conditions with ambiguous genitalia. Lancet 2003;
formation must be given to the patient and their family 361:1252
from the outset on the aims of the surgery and the 20. Crouch NS, Minto CL, Liao LM, et al: Genital sensation
risks to their daughter’s future sexual function. It is following feminizing genital surgery for congenital adrenal
hyperplasia: a pilot study. BJU International 2004; 93:135
time to consign the policy of routine feminizing genital
surgery for all to the history books. The option of doi:10.1016/j.jpag.2004.09.009
specialized psychological and peer support as a realis-
tic alternative to surgery must be made available to
all families. Early Intervention of CAH
Surgical Management
References Walid A. Farhat, MD
Department of Surgery, University of Toronto, Toronto, Ontario
1. Intersex Initiative (IPDX): Available: www.ipdx.org Division of Urology, The Hospital for Sick Children
2. Cull ML: Treatment of intersex needs open discussion. BMJ
2002; 324:919. Accessed 7/04
3. Androgen Insensitivity Syndrome Support Group (AISSG):
Available: www.medhelp.org/www/ais. Accessed 7/04 Introduction
4. Human Rights Commission for the City and Council of
San Francisco, 25 Van Ness Avenue #800, San Francisco, Our management protocol of 46XX newborns with
California. Public Hearing May 2004
congenital adrenal hyperplasia (CAH) is to first estab-
5. Consensus statement on 21-hydroxylase deficiency from
the Lawson-Wilkins pediatric endocrine society and the lish a definitive diagnosis and then to treat this disorder
European Society for Paediatric Endocrinology. J Clin En- as quickly and efficiently as possible. Through a multi-
docrin Metab 2002; 87:4048 disciplinary approach, we involve genetic counselling,
6. Nihoul-Fekete C: Surgical management of the intersex pa- psychology, and social work to help with the evaluation
tient and overview in 2003. J Ped Surg 2004; 39:144 and care of these patients. If they have ambiguous
7. Money J, Hampson JG, Hampson JL: An examination of genitalia, we perform a perineal reconstruction as early
some basic sexual concepts: The evidence of human her- as possible to minimize the period of gender uncer-
maphroditism. Bull Johns Hopkins Hosp 1955; 97:301 tainty. The surgical goals of perineal reconstruction
8. Meyer-Bahlburg HFL: Gender assignment in intersexual- are primarily to create an opening for the vagina, to
ity. J Psychol Hum Sex 1998; 10:1
create a normal looking vulva, and to separate the
9. Zucker KJ: Intersexuality and gender identity differentia-
tion. Annu Rev Sex Res 1999; 10:1 vagina from the urinary tract, thus resulting in a
10. Engert J: Surgical correction of virilised female external female-appearing perineum.
genitalia. Prog Pediatr Surg 1989; 23:151 Early reconstructive surgery allows us to use all
11. Glassberg KI: The intersex infant: early gender assignment available tissue, resulting in an enhanced healing re-
and surgical reconstruction. J Pediatr Adolesc Gynecol sponse. By performing a one-stage procedure, one
1998; 11:151 avoids discarding the redundant skin of the enlarged
12. Newman K, Randolph J, Anderson K: The surgical manage- clitoris, which occurs in a two-stage surgery.
ment of infants and children with ambiguous genitalia. This surgery on the masculinized external genitalia
Lessons learned from 25 years. Ann Surg 1992; 215:644
facilitates gender rearing as a female, which can prevent
13. Alizai NK, Thomas DFM, Lilford RJ, et al: Feminizing gen-
itoplasty for congenital adrenal hyperplasia: What happens
at puberty? J Urol 1999; 161:1588 Address reprint requests to: Dr. Walid A. Farhat, Division of Urology,
14. Syed HA, Malone PSJ, Hitchcock RJ: Diversion colitis in Hospital for Sick Children, 555 University Ave., Toronto, ON M5G
children with colovaginoplasty. BJU International 2001; 1X8, Canada; E-mail: walid.farhat@sickkids.ca
87:857 Phone: 416-813-6460; fax: 416-813-6461
 Erratum 67

stigmatization by family members. Furthermore, early implications. Performing major surgery on an adoles-
intervention allows patients to go through childhood cent girl who is also attaining sexual maturation and
with a body image that is more concordant with the sexual attention from boys may complicate the adoles-
normal female phenotype. Early surgery may also cent’s psychological development. For example, it
decrease the risk of social rejection and ambiguous has been shown already that women with CAH are
gender rearing. Some studies show that some 46XX less feminine and less secure in a traditional female
CAH girls have a male gender identity and possibly role.5,6 During their childhood, they tend to show less
a male sexual orientation. It is believed that this is inclination to play as or to form a relationship with
secondary to the high levels of circulating androgens other girls. Homosexual orientation is more pro-
present during the development of the fetal brain. A nounced in girls with the salt-losing form of CAH,
male gender identity can contribute to the psychosocial suggesting an endocrinological pathology is also a con-
and psychological conflict often present in these tributing factor in sexual orientation and gender
children. As a result of this theory, the suggestion to identity.
postpone surgery until the patient’s gender identity It is logical that a successful comprehensive genital
and sexual orientation are known has been recently surgery in infancy without any need for later proce-
proposed. This new approach is based on scattered dures would be most beneficial when compared to
data, limited to case reports and clinical experiences. other surgical regimens. Unfortunately, no systematic
We believe that early surgery should still be considered data is available comparing the psychological conse-
given the uncertainty of such an approach on the psy- quences of early comprehensive genital surgery in in-
chosexual and psychosocial development of these fancy versus late surgery, which may or may not
patients. involve a two-stage procedure that combines a clitoro-
plasty in infancy with vaginal reconstruction in adoles-
cence. Before we suggest any changes in the surgical
Psychosocial and Psychosexual Development recommendations, we must first understand what de-
Although the approach for early surgical intervention termines gender identity.
has been strongly challenged by some patients and
ethicists who believe that the responsibility for correc-
tive surgery belongs to the affected individual, most Evolution of Surgery and the Impact of Clear
doctors involved in gender assignment believe that Informed Consent
many parents would find it extremely difficult rearing Surgical treatment of patients with congenital adrenal
their child with ambiguous genitalia. Moreover, there hyperplasia has improved over last three decades, and
is little, if any, information on the impact of rearing such improvements have allowed an earlier perfor-
girls with an uncorrected male genital phenotype on mance of surgery.7 Furthermore, surgery to reduce the
their psychological development and psychosocial size of the clitoris has evolved. At the time of surgery
adjustment. every attempt is made to preserve clitoral innervations,
Until we have a study on the impact of delaying sensation, and blood supply to the clitoris while
treatment, we will not be able to know the outcome avoiding urinary tract complications such as inconti-
of such an approach. In the past, most authors agreed nence. Interestingly, this trend toward less clitoral sur-
that to achieve a normal gender identity and psycholog- gery preceded the more recent controversies raised
ical adjustment, concordances with genital appearance by adults with intersex disorders favoring delaying
and sex rearing must be present.1 More recently surgery on the clitoris. The key to successful surgical
there are some studies suggesting that the development reconstruction is an in-depth understanding of the uro-
of gender identity may not require normal appearing genital sinus and vaginal anatomy. Needless to say,
genitalia.2,3 Gender dysphoria may still occur in indi- the level of confluence between the vagina and the
viduals with sex-typical external genitalia. So until the urogenital sinus and its relation to the pelvic floor
impact of the sex typical genitalia on the gender iden- are very important variables that dictate the surgical
tity is clearly specified, parents should be advised approach. For instance, results for single-stage femi-
about the uncertainty of this major confounding factor. nizing genitoplasty in infants have been widely re-
Berenbaum investigated gender identity in females ported and were shown to be better in those with a
with CAH in relation to genital appearance and surgery low confluence of the vagina in the urogenital sinus.8
and found that the gender identity in those patients More importantly, for successful vaginal reconstruc-
was not related to the degree of genital masculinization tion, the surgeon must determine whether the vagina
nor the age at which genital surgery was done.4 Never- is long enough to reach the perineum and whether it
theless, we do believe the timing of genital surgery can be separated from the urogenital sinus without
in the course of a child’s development is likely to have compromising the pelvic floor, the bladder neck, and
some psychological, psychosocial, and psychosexual the urethral integrity.9
68 Erratum

Perhaps the most compelling argument for early We believe that the evaluation of the outcome of
surgery in infancy is the availability of the enlarged surgery on the patients with congenital adrenal hyper-
clitoral and preputial skin. This redundant skin, espe- plasia should be made in a very strict and systematic
cially in severely masculinized females, provides an manner. Age at surgery, severity of the anatomical
excellent source for genital reconstruction. The use of abnormality, the operative approach, and surgical skills
this skin flap needs to be evaluated in long-term follow- should be incorporated in the assessment of out-
up studies. The true test of its efficacy will be satisfac- comes. Recently patients who underwent corrective
tory intercourse in adulthood. Understandably, the surgery for genital ambiguity were publicly complain-
clitoris is important in the female sexual response in ing about their sexual sensations. However, there may
achieving orgasm. Most studies addressing this partic- be many adults living perfectly fulfilled lives and un-
ular issue have significant limitations. The first limita- aware that they ever had any intersex condition. In a
tion is appreciating that modern surgical techniques questionnaire, which surveyed females with CAH, the
are better for preserving clitoral sensation. Secondly return rate was only 50 %. Given these results one might
there is a lack of control groups in most of these infer that the other 50% have normal sexual function
studies. Furthermore, it is not entirely clear if skilled or are unaware of their diagnosis.10 In another study
surgeons performed this complicated surgery on all addressing the long-term outcome of genital surgery in
patients. Nevertheless, the dilemma revolving around CAH females, their sexual development and activity
the clitoroplasty or clitorectomy and its impact on adult were also measured and the outcome seemed more
sexual sensation has been challenged in the last few favorable. Furthermore, the patients’ opinion about
decades and this debate will probably continue for their genitalia, their satisfaction, and their concerns
some time. For instance, patients who undergo a true were no different from the controls.11 These improved
clitoroplasty that includes partial resection of the cor- outcomes could be related to the fact that the treatment
poral cavernosum and preservation of the neurovascu- modality was similar in all patients in this study and
lar bundle should fare much better than patients who was provided by the same surgical team.
undergo a clitorectomy. However, it is not known how Nevertheless, a single confirmed medical argument
much disruption of the neurovascular complex occurs against surgery in infancy is the risk of neoplasia.
when nerve sparing feminizing genitoplasty is done. Schober identified five patients with squamous cell
This is one of the major limitations of any study as- carcinoma of vaginal mucosa and four with adenocar-
sessing the long-term outcomes of both new and old cinoma of the vagina between 1927 and 1994, oc-
procedures used in this evolving field. We believe that curring eight to twenty-five years after reconstructive
the surgical techniques are continuously evolving and surgery.12 However, none of the more recent relatively
skilled surgeons interested in this field should always large series on vaginal reconstruction report any cases
seek new information in order to provide the best of neoplasia.
outcome to their patients. Overall, the goals of the medical team include re-
Fully informed consent for such a procedure would storing normality within the assigned gender by con-
require the parents to be informed of the possibility of structing normal external genital anatomy and by
non-operative management with psychological support ensuring the development of normal secondary sex
for the child and the family. Although there is a characteristics. From a patient’s perspective, those
common attitude among most parents that they want goals should be met in such a way as to permit normal
their daughters’ genitalia to look normal as early as sexual function, arousal, sensation, penetrative inter-
possible, surgeons should provide clear information to course, orgasm, and preservation of fertility.
allow the parents to consider the different treatment On the other hand, there are certain goals that are
options. For instance, if parents were made aware of unachievable. Psychosocial and psychosexual devel-
the possible decrease in the sexual sensation upon opments influence the ultimate sexual orientation in
performing this surgery, perhaps the parents might be this group of patients and are not easily understood.
more reluctant to proceed with immediate surgery Unfortunately, despite development in recent decades
and might defer surgical intervention. Furthermore, and in on-going research, it is clear that for the foresee-
while informing the parents about the surgical pro- able future these goals are likely to remain unachiev-
cedures and possible complications of a one-stage able for many patients. Furthermore, setting goals for
genitoplasty, we must also inform them about the successful gender assignment in terms of psychologi-
complications noted in multiple studies that do not cal and psychosexual adjustment is particularly prob-
support the one-stage genitoplasty procedure. A dis- lematic because of the limitations of the methods
cussion about the uncertainties of delaying surgery available to quantify these outcomes and because of
until adolescence should also be included in the the inherent difficulty in defining what constitutes
consent. normal in the context of human sexuality.
 Erratum 69

Conclusion References
The question of the timing of surgery will be always
difficult to answer and a great deal of controversy will 1. Bailey JV, Farquhar C, Owen C, et al: Sexual behaviour
remain surrounding this issue. Non-medical reasons of lesbians and bisexual women. Sex Transm Infect 2003;
for the early intervention include lessening the mental 79:147
anguish of the parents about their anomalous child and 2. Bin-Abbas B, Conte FA, Grumbach MM, et al: Congenital
hypogonadotropic hypogonadism and micropenis: why sex
the assumption that the child may not remember that
reversal is not indicated. J Pediatr 1999; 134:579
being born with a genital anomaly. Both these assump-
3. Diamond M, Sigmundson HK: Management of intersexual-
tions have yet to be proven. A multidisciplinary ity. Guidelines for dealing with persons with ambiguous
approach, more technically advanced surgeons, and genitalia. Arch Pediatr Adolesc Med 1997; 151:1046
endocrinologists, who have a comprehensive under- 4. Berenbaum SA, Bailey JM: Effects on gender identity of
standing of the molecular, genetic, and endocrinologi- prenatal androgens and genital appearance: evidence from
cal issues in the pathophysiology of this disorder, girls with congenital adrenal hyperplasia. J Clin Endocrinol
enhance the management of these patients. This ap- Metab 2003; 88:1102
proach has led to a markedly better outcome for these 5. van der Kamp HJ, Slijper FM: The quality of life in adult
patients. Aesthetic and gender typical appearance con- female patients with congenital adrenal hyperplasia: a com-
tinue to be useful as criteria for good surgery outcome, prehensive study of the impact of genital malformations
but the challenge and the key question will always and chronic disease on female patients life. Eur J Pediatr
be what is the sexual and social adjustment of these 1996; 155:620
patients in late adolescence and adulthood. 6. Zucker KJ, Bradley SJ, Oliver G, et al: Psychosexual devel-
opment of women with congenital adrenal hyperplasia.
Unless a solid empirical basis emerges for changing
Horm Behav 1996; 30:300
the current policy, the evidence seems insufficient for
7. Schnitzer JJ, Donahoe PK: Surgical treatment of congenital
recommending a systematic policy change at this stage. adrenal hyperplasia. Endocrinol Metab Clin North Am
Neither the child nor the parents should suffer from 2001; 30:137
the anticipation of a future major operative intervention 8. Rink RC, Adams MC: Feminizing genitoplasty: state of
at puberty that may cause great emotional stress and the art. World J Urol 1998; 16:212
may also be more difficult to perform. Only a prospec- 9. de Jong TP, Boemers TM: Neonatal management of female
tive study comparing the early and delayed interven- intersex by clitorovaginoplasty. J Urol 1995; 154:830
tions and their long-term sequelae may influence the 10. Crouch NS, Minto CL, Laio LM, et al: Genital sensation
timing of surgery. Furthermore, we should always after feminizing genitoplasty for congenital adrenal hyper-
remember that the impact of various surgical tech- plasia: a pilot study. BJU Int 2004; 93:135
niques upon sexual function and maturity are very 11. Stikkelbroeck NM, Beerendonk CC, Willemsen WN, et al:
closely related and affected by the impact of prenatal The long term outcome of feminizing genital surgery for
androgen exposure. Only by understanding the multi- congenital adrenal hyperplasia: anatomical, functional and
ple influences on gender identity will we be able to cosmetic outcomes, psychosexual development, and satis-
improve the management of children with ambiguous faction in adult female patients. J Pediatr Adolesc Gynecol
2003; 16:289
genitalia. Until that time, we recommend that assign-
12. Schober JM: Quality-of-life studies in patients with ambig-
ment of gender be done on an individual basis. The
uous genitalia. World J Urol 1999; 17:249
decision may also need to include cultural considera-
tions in addition to family related issues. doi:10.1016/j.jpag.2004.09.008