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Aim: To present the outcome of an online survey of the current practice in feminizing surgery for congenital adrenal hyperplasia (CAH) among the specialists attending the IVth World Congress of the International Society of Hypospadias and Disorders of the Sex Development (ISHID), 2011. Material and methods: An online survey covered 13 individual questions regarding the management and surgical techniques for 46XX CAH patients. All delegates attending the conference were invited to complete this anonymous survey. The data was analysed by three of the authors. Results: A total of 162 delegates had registered for the conference and 60% of them were paediatric surgeons or paediatric urologists. 65 delegates completed the online survey. Early surgery, before the age of two years, is preferred by 78% of the surgeons and most of them would include clitoroplasty, vaginoplasty and labioplasty. The most frequent surgical technique used for the clitoroplasty is the partial excision of the corpora cavernosa and the skin flap or "U flap" vaginoplasty. Routine vaginal dilatations after puberty are advocated by 28% of the delegates. More than 75% report good outcomes. Conclusions: Within the limitations of the methodology of this survey, this study suggests that there is agreement in many aspects related with the surgical treatment for 46XX CAH. Self reported outcomes are satisfactory for most of the respondents.
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Current practice in feminizing surgery for congenital
adrenal hyperplasia; A specialist survey
Francisca Yankovic
a
, Abraham Cherian
a,
*, Lisa Steven
a
, Azad Mathur
b
,
Peter Cuckow
a
a
Department of Paediatric Urology, Great Ormond Street Hospital NHS Foundation Trust, Great Ormond Street,
London WC1N 3JH, UK
b
Department of Paediatric Surgery, Norfolk and Norwich University Hospital, Colney Land, Norwich NR4 7UY, UK
Received 27 September 2012; accepted 25 March 2013
KEYWORDS
Congenital adrenal
hyperplasia;
Specialist survey;
Feminizing
genitoplasty
Abstract Aim: To present the outcome of an online survey of the current practice in femi-
nizing surgery for congenital adrenal hyperplasia (CAH) among the specialists attending the
IVth World Congress of the International Society of Hypospadias and Disorders of the Sex Devel-
opment (ISHID), 2011.
Material and methods: An online survey covered 13 individual questions regarding the manage-
ment and surgical techniques for 46XX CAH patients. All delegates attending the conference
were invited to complete this anonymous survey. The data was analysed by three of the
authors.
Results: A total of 162 delegates had registered for the conference and 60% of them were
paediatric surgeons or paediatric urologists. 65 delegates completed the online survey. Early
surgery, before the age of two years, is preferred by 78% of the surgeons and most of them
would include clitoroplasty, vaginoplasty and labioplasty. The most frequent surgical tech-
nique used for the clitoroplasty is the partial excision of the corpora cavernosa and the skin
flap or “U flap” vaginoplasty. Routine vaginal dilatations after puberty are advocated by 28%
of the delegates. More than 75% report good outcomes.
Conclusions: Within the limitations of the methodology of this survey, this study suggests that
there is agreement in many aspects related with the surgical treatment for 46XX CAH. Self
reported outcomes are satisfactory for most of the respondents.
ª2013 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.
* Corresponding author. Tel.: þ44 20 74059200; fax: þ44 20 78138260.
E-mail address: Abraham.cherian@gosh.nhs.uk (A. Cherian).
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Please cite this article in press as: Yankovic F, et al., Current practice in feminizing surgery for congenital adrenal hyperplasia; A
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1477-5131/$36 ª2013 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.
http://dx.doi.org/10.1016/j.jpurol.2013.03.013
Journal of Pediatric Urology (2013) xx,1e5
Introduction
46 XX congenital adrenal hyperplasia (CAH) is the most
frequent diagnosis in girls who present with genital virili-
zation. In line with the new classification for the disorders
of sex development (DSD) it falls into the group of 46XX,
DSD [1]. Current surgical techniques aim to create normal
looking female external genitalia, promote adequate
bladder emptying, allow unimpeded egress of menstrual
fluid, and ultimately allow a normal reproductive life in
adulthood [2]. Due to the complex nature of this condition,
the best surgical management and timing of intervention
remain the subject of controversy. Some studies have
challenged the approach of early surgery in childhood
reporting high complication and revision rates in adoles-
cence [3,4]. However, other studies have shown good out-
comes [5,6]. The aim of this study is to report the current
practice among specialists who attended the IVth World
Congress of the International Society for Hypospadias and
Disorders of the Sex Development (ISHID) meeting held in
London in 2011.
Material and methods
An online survey was set up by the organizing committee
and all delegates registered for the conference were
invited to complete an anonymous online questionnaire
regarding their practice in feminizing surgery for 46XX CAH.
The survey covered 13 individual questions relating to
clitoral and vaginal surgery, pre-operative care, surgical
technique and outcome. The survey questionnaire may still
be viewed online at www.jotform.com/form/11473104676.
Verbal reminders to complete the questionnaire were given
during the conference and further emails sent to partici-
pants in the months after the conference. The survey
closed at the end of November 2011.
Results
Demographics
A total of 162 delegates registered and attended the IVth
World Congress of ISHID Meeting in London, September
2011. The delegates were from all 5 continents (Fig. 1) and
the majority were paediatric surgeons (30%), and paediatric
urologists (30%). Considering that 52 delegates had a non-
surgical background, including paediatricians, clinical
nurse specialists and psychologists, we estimate that 55% of
the delegates who may be involved in CAH surgery had
answered our survey. These professionals were from all
over the world, but with a major representation from
the UK (28%) and Europe (46%). No regional differences of
significance in responses were observed among the
respondents.
The number of cases done per year was less than 5 for
50% of the surgeons, 36% perform between 6 and 20 cases
per year and 14% operate more than 20 patients per year.
The majority (87%) of respondents adopt a multidisci-
plinary approach in the treatment of CAH patients and
almost 70% would always include psychological assessment.
When surgical aspects were analysed, 61 delegates were
eligible to respond. The majority (46/61) of this group
would include clitoroplasty, labioplasty and vaginoplasty
and a small percentage (4/61) would do vaginal surgery
alone. Regarding the surgical timing (Fig. 2), most support
surgery in the first two years of life (48/61). Of those who
promote early surgery, 28 would perform all the compo-
nents of feminizing surgery at the same time and 20 would
delay some components. Four respondents advocate only
late surgery.
Clitoral surgery
Most of the surgeons perform a partial excision of the
corporal bodies. 19% prefer a corporal preserving approach,
including surgeons that bury the corpora and those who
perform a split-dismembered clitoroplasty. The self-
reported outcomes from the respondents that perform
clitoral surgery are very good in 57%, good in 26% and 16%
poor (Table 1).
Vaginal surgery
55 surgeons responded to the section on vaginal surgery and
the survey shows that a wide variety of techniques are in
use (Table 2). A group of 16 surgeons (26%) admit to using
only the skin flap for vaginoplasty. The other 39 re-
spondents (64%) use more than one technique for vaginal
reconstruction. The survey infers that skin flap is the most
popular technique, followed by partial and total urogenital
mobilization. Bowel substitution with colon (17%) or ileum
(7%) was also mentioned among the techniques that might
be required in some patients. 28% of the respondents
include vaginal dilatations after puberty following vaginal
surgery. The self reported outcomes for vaginal surgery are
very good or good for 74% of the delegates, disappointing
for 18%, and 8% report several complications and frequent
need of revision surgery (Table 1).
Discussion
Surveys of surgical practice provide useful information
about the current trends in the management of some clin-
ical conditions especially with regard to controversial is-
sues. For patients with 46XX CAH, this can be even more
helpful as single centre experience is usually limited. There
are many problems with this methodology, which include
the relatively small number of respondents and the bias of
the specialties that have chosen to attend this meeting.
Delegates were asked to answer this survey during the
meeting and not from their workplaces. This can also lead
to inaccuracy regarding the number of cases treated per
year and carries a clear risk of a more positive perception
in their results, as this questionnaire only reflects self-
reported outcomes.
The consensus statement on the management of
intersex disorders published in 2006 suggests only surgeons
with expertise in the care of children and specific training
in surgery of DSD should perform these procedures [1].
To achieve standardization in surgical practice, man-
agement of these complex cases should be performed by
experienced professionals in a multi-disciplinary setting.
As stated by Arul et al., in 1998, centralisation improves
2 F. Yankovic et al.
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Please cite this article in press as: Yankovic F, et al., Current practice in feminizing surgery for congenital adrenal hyperplasia; A
specialist survey, Journal of Pediatric Urology (2013), http://dx.doi.org/10.1016/j.jpurol.2013.03.013
expertise as well as aiding in developing support services
[7]. In order to increase surgical expertise and outcomes for
the management of patients with DSD, it would be desir-
able to reduce the number of centres that treat these pa-
tients. However, this disorder is rather uncommon and
occurs in approximately 1 in 16,000 births [3], and half of
the respondents perform less than 5 cases per year.
The phenotype of children with 46XX CAH is variable;
therefore surgical treatment should be individualized. The
decision-making process should include a multidisciplinary
team and the family. This concept seems to be widely
accepted by the respondents in our survey.
The classical surgical technique includes three main
steps: clitoroplasty, vaginoplasty, and perineoplasty (labio-
plasty). Clitoral surgery has evolved from clitoral amputa-
tion to more preservative procedures including plication,
concealing, recession and reduction [2]. The majority of the
respondents excise the corpora cavernosa, preserving the
neurovascular bundle. This technique, described first by
Goodwin and later modified by different authors, has gained
popularity due to the theoretical preservation of the
sensitivity of the clitoral tissue [5]. A novel technique
described by the group from Toronto aims to preserve all of
the clitoro-phallic tissue with the potential for reversibility.
The corporeal sparing dismembered clitoroplasty includes
the glans dissection with the neurovascular bundle, division
of the corpora in two and the placement of each of the
hemicorpora inside the labial scrotal folds [10]. A small
group of delegates are using this technique.
Outcomes for clitoroplasty were reported as very good
or good by 84% of the delegates. The experience from Milan
with 82 consecutive cases, managed with partial excision of
the corporal bodies, reports 100% success in terms of size of
the clitoral reduction and cosmesis [6]. However, no in-
formation is provided regarding clitoral sensation or patient
satisfaction after the surgery. Less encouraging outcomes
are reported from long-term follow up by Crouch and col-
leagues, as genital sensitivity and sexual function were
affected after clitoral surgery [3,4]. However comparison
with contemporary surgery is difficult without accurate
information on what the initial surgery entailed [9].
Vaginoplasty techniques have evolved to improve the
cosmetic and functional aspect of female genitalia [5]. The
technique described by Fortunoff using an inverted U flap
from perineal skin to form the posterior wall of the vagina
[11], with some subsequent modifications, is one of the
most popular, and 78% of delegates declare using this
Figure 1 Geographical distribution of delegates completing the CAH survey.
Figure 2 Feminizing genitoplasty, timing of surgery.
Table 1 Self reported outcomes for genitoplasty.
Reported outcomes
for clitoral surgery
(percentage of
surgeons)
Reported outcomes
for vaginal surgery
(percentage of
surgeons)
Very
Good
58% 52%
Good 26% 22%
Poor 16% 26%
Current practice in feminizing surgery for CAH 3
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Please cite this article in press as: Yankovic F, et al., Current practice in feminizing surgery for congenital adrenal hyperplasia; A
specialist survey, Journal of Pediatric Urology (2013), http://dx.doi.org/10.1016/j.jpurol.2013.03.013
technique. However, 64% admit to using more than one
surgical technique. This could reflect the nature of this
condition, in which some cases will present with a vaginal
opening near the perineal skin surface, whereas others may
have a higher confluence. For the ones with a higher
confluence, some authors believe that a partial or total
urogenital mobilization (TUM) will achieve better out-
comes. The TUM, first described by Pen
˜a for cloacal mal-
formations, can provide better mobilization; however it has
also been associated with higher risk of sphincter damage
and incontinence [2,8]. It is concerning to report that 24%
of delegates considered bowel substitution as an option
for vaginal reconstruction in patients with 46XX CAH. This
does not reflect the standard practice and perhaps only
reproduces a bias in the structure of our survey, where
delegates could not explain the situations in which they
would use a specific technique.
The long-term outcomes of vaginal reconstruction,
published in 2006 by Wilcox and colleagues, show compli-
cation rates as high as 73%, with revision surgery in 11%
[12]. However, excluding vaginal discharge and the neces-
sity of vaginal dilation, the complication rate falls to 18%.
Another study has demonstrated that around 77% of the
patients who had vaginal reconstruction in childhood
require further surgery to permit penetrative intercourse
[3]. In our survey, 74% of the respondents consider their
outcomes as very good or good. Nevertheless, nearly a third
of them will use routine vaginal dilatations after puberty.
The main controversies surrounding feminizing surgery
for patients with 46XX CAH include: long-term clitoral
sensitivity, potential reversibility to male phenotype after
early surgery, substitutive tissues to replace or improve the
deficient vagina, and the timing of surgery [2,3,8,10].
Many authors have advocated early surgical treatment,
between 2 and 6 months of age. Potential benefits of per-
forming early surgery include better quality of genital tis-
sues, better vascularization secondary to postnatal
maternal oestrogens, and possibly reduction in the anxiety
of parents and children regarding the appearance of their
external genitalia [2,8]. Detractors of early surgery base
their approach on the concern that there is insufficient
evidence that early surgery benefits gender identity, po-
tential impairment in clitoral sensitivity and high rates of
revision for vaginoplasties. Despite several publications in
this area, there is a lack of evidence to suggest that the late
approach can achieve better outcomes, and this should
be balanced against the good results reported by Hutson’s
group from Melbourne with early surgery [13]. Long-term
follow up literature is limited and conclusions cannot be
drawn until that evidence becomes available.
Summary
Within the limitations of the methodology of this survey,
this study suggests that there is agreement in many aspects
related to the surgical treatment for 46XX CAH patients
among the delegates attending the ISHID 2011 conference.
More than three quarters perform surgery before the age of
two years. Considering the risk of a positive bias in the
perception of surgical outcomes, the self-reported results
are considered good and this correlates with most of the
surgical series published.
Conflict of interest statement
None.
Funding source
None.
Ethical approval
Institutional approval obtained.
References
[1] Hughes IA, Houk C, Ahmed SF, Lee PA. Consensus statement on
management of intersex disorders. J Pediatr Urol 2006;2(3):
148e62.
[2] Braga LH, Pippi-Salle JL. Congenital adrenal hyperplasia: a
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[3] Crouch NS, Liao LM, Woodhouse CRJ, Conway GS,
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Table 2 Surgical technique used for vaginoplasty.
Only one surgical
technique (number
of delegates,
NZ16)
More than one
surgical technique
(number of
delegates, NZ45)
V flap (skin)
vaginoplasty
840
Partial/total UG
mobilization
530
Ileal substitution 0 4
Colonic
substitution
38
4 F. Yankovic et al.
+MODEL
Please cite this article in press as: Yankovic F, et al., Current practice in feminizing surgery for congenital adrenal hyperplasia; A
specialist survey, Journal of Pediatric Urology (2013), http://dx.doi.org/10.1016/j.jpurol.2013.03.013
[10] PippiSalle JL, Braga LP, Macedo N, Rosito N, Bagli D. Corporeal
sparing dismembered clitoroplasty: an alternative technique
for feminizing genitoplasty. J Urol 2007;178(4 pt 2):1796e800.
[11] Fortunoff S, Lattimer JK, Edson M. Vaginoplasty technique for
female pseudohermaphrodites. Surg Gynecol Obstet 1964;
118:545e8.
[12] Burgu B, Duffy PG, Cuckow P, Ransley P, Wilcox DT. Long-term
outcome of vaginal reconstruction: comparing techniques and
timing. J Pediatr Urol 2007;3(4):316e20.
[13] Lean WL, Deshpande A, Hutson J, Grover SR. Cosmetic and
anatomic outcomes after feminizing surgery for ambiguous
genitalia. J Pediatr Surg 2005 Dec;40(12):1856e60.
Current practice in feminizing surgery for CAH 5
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Please cite this article in press as: Yankovic F, et al., Current practice in feminizing surgery for congenital adrenal hyperplasia; A
specialist survey, Journal of Pediatric Urology (2013), http://dx.doi.org/10.1016/j.jpurol.2013.03.013
... In contrast, a 40-year follow-up study did not find gender issues in 33 cases with OT-DSD after conservative gonadal surgery (8). Assigning sex of rearing at an early stage in accordance with following up steroid replacement and surgical intervention were recommended by the Fourth World Congress of the International Society of Hypospadias and Disorders of Sex Development Surgery and the American Academy of Pediatrics which can reduce the stigma associated with genital atypicality (9,10). ...
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Background Ovotesticular disorder of sex development is a rare form of disorder of sex development that manifests as ovotestis in individuals. The precise diagnosis and the choice of surgical procedures are still in conflict condition due to the rarity of the disease, diverse clinical presentations, and the lack of evidence-based medical studies on postoperative outcomes. Case presentation We present a 46, XX ovotesticular disorder of sex development case, aged 19, with Prader stage IV virilization who underwent feminizing genitoplasty surgery. Our surgical strategy prioritized the patient's genitourinary function restoration and cosmetic reconstruction achieved satisfactory results. We attribute the success of the treatment to the systematic diagnostic process and individualized surgical planning. Conclusion The purpose of this article is to provide an evaluation protocol for the ovotesticular disorder of sex development, improving the diagnostic rate and providing some fresh ideas for surgical management.
... Feminizing genitoplasty is one of these surgeries that demonstrate the complexity of management and outcome evaluation in this rare congenital anomaly. Management of these complex cases should be performed by experienced professionals in multidisciplinary settings [10]. ...
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Since the first part of the 20th century, when physicians and surgeons were struggling to understand disorders of sex development (DSD) and the variety of associated anomalies they produced, there have been great strides in feminizing surgery for patients with DSD. Surgical techniques were devised and concepts about how best to manage these complicated patients were developed. In this article, the evolution of these concepts and refinements of technique for feminizing genitoplasty that have taken place over the past three quarters of a century are presented, and the surgical outcomes and complications of feminizing genitoplasty are critically reviewed.
Article
Disorders of sexual development (DSD) include three main groups of patients: (1) The virilised 46,XX DSD essentially represented by congenital adrenal hyperplasia (CAH) ; (2) The undervirilised 46,XY DSD essentially represented by hypospadias; and (3) the chromosomic jigsaws essentially represented by mixed gonadal dysgenesis. It is in this last group that gender assignment remains a difficult decision involving various indicators, which can be split into four categories: (1) the inside sex (i.e., genes, hormones and target tissues); (2) the outside sex (i.e., anatomy of genitalia including size of the genital tubercle, mullerian cavity and potential adult height of the patient); (3) the functional sex (i.e., potential sexuality and fertility); and (4) and the social sex (i.e., the cultural medium in which the child is brought up). The challenge is to outline the future individual identity of the child in the postnatal period using these indicators. Current evolutions of surgical techniques of 'feminisation' and 'masculinisation' are described as well as their outcomes.
Article
Although congenital adrenal hyperplasia (CAH) is the most common cause of genital ambiguity, its surgical treatment remains controversial and often times difficult, especially in cases of high urethro-vaginal confluence. Many aspects are still uncertain, such as the timing of feminizing genitoplasty and type of surgical technique. The objective of this study is to provide a thorough review of the surgical management of children with CAH, discussing the evolution of feminizing genitoplasty and its different techniques, and also to critically appraise the available literature on the timing of surgical intervention and gender reassignment. Prospective long-term studies evaluating the results of modern feminizing genitoplasty techniques are needed as current evidence is based on outdated operations that are no longer used. To date, there have been no studies comparing early and delayed feminizing genitoplasty with regard to psychological outcomes. All families should be counseled regarding the controversies and treatment options, including the watchful waiting approach.
Article
In a retrospective review, to analyse the long-term outcomes of vaginal reconstruction, comparing techniques and timing. We identified 63 patients who underwent a total of 71 vaginoplasties in 1985-2000. The techniques used were posterior skin flap (42), intestinal replacement (21) and pull through (8). The majority of operations were performed before puberty (63%) and as primary procedures (79%). Presenting diagnoses were congenital adrenal hyperplasia (23), cloacal exstrophy (8), true persistent cloaca (12), androgen insensitivity (8), urogenital sinus anomaly (6), mixed gonadal dysgenesis (3), true hermaphroditism (2) and sacrococcygeal teratoma (1). The mean age at operation was 83.9 (2-235) and mean follow up was 116.8 (48-232) months. Strictures and discharge were the most common problems. Nine patients underwent revision surgery and a fistula repair was required in two patients. Mucosal prolapse was observed in one ileo- and one colovaginoplasty patient, and diversion colitis occurred after colovaginoplasty in one patient. More complications occurred in operations performed prior to than following puberty. If vaginoplasty is the only indicated operation, delaying until puberty may minimize complications. When other genital surgery is indicated or in the presence of symptoms pre-pubertal vaginoplasty should be performed, since the second procedure usually involves simple dilatations and is associated with good results.
Article
The birth of an intersex child prompts a long-term management strategy that involves a myriad of professionals working with the family. There has been progress in diagnosis, surgical techniques, understanding psychosocial issues and in recognizing and accepting the place of patient advocacy. The Lawson Wilkins Paediatric Endocrine Society (LWPES) and the European Society for Paediatric Endocrinology (ESPE) considered it timely to review the management of intersex disorders from a broad perspective, to review data on longer term outcome and to formulate proposals for future studies. The methodology comprised establishing a number of working groups whose membership was drawn from 50 international experts in the field. The groups prepared prior written responses to a defined set of questions resulting from an evidence based review of the literature. At a subsequent gathering of participants, a framework for a consensus document was agreed. This paper constitutes its final form.
Article
We have tried to review the evidence for the organisation of paediatric surgical care. Difficulties arise because of the lack of published data from district general hospitals concerning paediatric surgical conditions. Hence much of the debate about the surgical management of children is based on anecdotal evidence. However, at a time when the provision of health care is being radically reorganised to an internal market based on a system of purchasers and providers it is more important than ever to understand the issues at stake. Two separate issues have been discussed: the role of the specialist paediatric centre and the provision of non-specialist paediatric surgery in district general hospitals. There are arguments for and against large regional specialist paediatric centres. The benefits of centralisation include concentration of expertise, more appropriate consultant on call commitment, development of support services, and junior doctor training. The disadvantages include children and their families having to travel long distances for care, and the loss of expertise at a local level. If specialist paediatric emergency transport is available the benefits of centralisation far outweigh the adverse effects of having to take children to a regional paediatric intensive care centre. Specialist paediatric centres are aware of the importance of treating children and their parents as a family unit as highlighted by the Platt committee; this is an important challenge and enormous improvements have occurred to provide proper accommodation for families while their children are treated in hospital. To keep these arguments of large distances and separation from the home in context, one paediatric intensive care unit in Victoria, Australia, providing a centralised service to a region larger in are than England and with a similar admission rate, has a lower mortality rate than the decentralised paediatric intensive care provided in the Trent region of the UK. There is clear evidence that all neonatal surgery and anaesthesia should be conducted only by specialists. The debate now centres around the number of complex surgical cases a unit should treat to maintain its specialist status. The NHS executive, in its guidelines on contracting for specialist services, emphasises that "Sensible contracting needs to take into account the optimum population size not only for the stability of contracted referrals but also to give sufficient 'critical mass' for clinical effectiveness." Achieving this balance has consequences, not just for the maintenance of surgical expertise, but for the essential ancilliary services. There is clear evidence in anaesthesia that anaesthetists doing small numbers of neonatal procedures had significantly worse results. The same seems to be true in the fields of oncology, radiology, pathology, and intensive care. The reasons why the results of management of certain paediatric conditions are better at specialist centres are open to speculation. Presumably greater exposure to rare complex cases, concentration of expertise, more peer review, and a trickle down effect of the multidisciplinary approach all help to keep health care workers up to date with current world practice. In addition, it allows for appropriate specialist on call rotas and dedicated junior staff. If insufficient numbers of specialist surgical cases are being treated at a centre then the whole multidisciplinary team suffers. The 1989 NCEPOD report states "that paediatricians and general surgeons must recognise that small babies differ from other patients not only in size, and that they pose quite separate problems of pathology and management." The need for large centres of paediatric surgical expertise is now accepted by the Royal College of Surgeons of England, the British Association of Paediatric Surgeons, the Senate of Surgery of Great Britain and Ireland, the Royal College of Paediatrics and Child Health, the Royal College of Anaesthetists, the Audit