Statement
of the British Association of Paediatric Surgeons Working Party on the Surgical
Management of
July
2001
Members of the Working Party
Mr Laurence
Rangecroft
Paediatric Surgery/Urology
Newcastle upon Tyne
Dr Caroline
Brain
Paediatric Endocrinology
London
Miss Sarah
Creighton
Gynaecology
London
Dr Domenico Di
Ceglie
Psychiatry
London
Dr Amanda
Ogilvy-Stuart
Neonatal Paediatrics
Cambridge
Mr Patrick
Malone
Paediatric Urology
Southampton
Mr Richard
Turnock
Paediatric Surgery
Liverpool
Written
submissions were taken from:
The
Androgen Insensitivity Syndrome Support Group (UK)
The
Congenital Adrenal Hyperplasia Network
Dr Gerard Conway
Consultant Endocrinologist, London
Catherine Minto
Research Fellow, UCLH, London
Introduction
The surgery of
intersex conditions in childhood is complex and demanding such that
comprehensive coverage might require a document of textbook length.
It is the hope of the working party however that this brief publication
represents a fair and, above all, evidence based summation of current thinking
and suggested practice. Such is the
pace of change that we may well need to review matters in a few years time but
for now I would like to thank the other members for their considerable expertise
and diligence over the last year.
(Laurence
Rangecroft, Chairman, July 2001)
1.
General Considerations
(a)
The surgical management of children born with ambiguous genitalia has
always been difficult, subject to evolving attitudes and techniques, and at
times controversial. Standard
protocols have stressed the need for early diagnosis, gender assignment and
appropriate surgery in infancy.1 In recent years some authors, backed
by patient support groups, have claimed that such surgery is damaging or
mutilating and, as it is essentially cosmetic, should not be performed until the
fully informed consent of the patient could be obtained, i.e. when the child
becomes ‘Gillick Competent’.2,3,4
There are, however, so many specific issues related to the different
diagnostic groups that such a policy would seem to be too prescriptive.
(b)
In view of the comparative rarity and complex issues involved in treating
these children, we would unreservedly recommend their early referral to the
nearest regional centre for both immediate and continuing management by a
multidisciplinary team. The
disciplines involved should include appropriately trained paediatric surgeons
and/or paediatric urologists, neonatologists and paediatric endocrinologists and
their specialist nurses/support workers, geneticists, biochemists, psychologists
and gynaecologists. Psychological
support for the child/adolescent and family should be well integrated with
medical input, easily accessible at the time of need and provided by, or in
consultation with, a specialised service. These
multidisciplinary teams and clinics are an obvious and important resource for
training and research and, in particular, follow up studies.
(c)
While there is likely to be continuing pressure from parents for early
corrective surgery, fully informed consent for such procedures would require
them to be aware of the possibility of non-operative management with
psychological support for the child and family.
2.
Congenital Adrenal Hyperplasia (CAH)
(a)
CAH produces virilisation of the female fetus and forms the largest
single diagnostic group of children presenting at birth with ambiguous genitalia
in the United Kingdom. The degree of virilisation varies widely.
(b)
Although some of these girls may opt to change gender in later life,
published reports to date suggest that the incidence is low and does not, of
itself, constitute a strong indication for delaying feminising genitoplasty
until adolescence or beyond.5,6
Rarely the diagnosis
may be missed and a severely virilised 46 XX individual may be raised as a boy.
Assignment of gender has to be on an individual basis, and the decision
may need to include cultural considerations.
(c)
The two essential elements of feminising genitoplasty are clitoral
reduction/recession and vaginoplasty.
While the operation of clitoral shaft resection with preservation of the
glans on its neurovascular bundles seems logical, and is probably an advance on
total clitorectomy or clitoral recession, there is no evidence that the retained
glans functions well in sexual/orgasmic terms.
Indeed there is some emerging evidence to the contrary ( see Appendix).
Further revisional procedures in adolescence are common and may do further
sensory damage. Surgeons and
parents need to be fully aware that this is the case before proceeding with this
irreversible procedure and that there is a strong case for no clitoral surgery
at all in lesser degrees of clitoromegaly.
(d)
The ease with which vaginoplasty can be performed at any age
depends on the length of the common urogenital sinus.
The few long term follow up studies currently available suggest that the
majority of girls will require some, and often major, revisional surgery for
vaginal or introital stenosis in adolescence. 7, Appendix
Since early
vaginoplasty confers no obvious benefit in a young girl, there would seem to be
a strong case for delaying it until the onset of menstruation possibly makes it
mandatory. The advent of more
recent techniques for coping with the high vagina, such as the Passerini-Glazel
procedure 8, would seem
unlikely to alter the outcome as regards revisional surgery significantly.
Individual surgeons may feel that vaginoplasty is still warranted in the
low, and therefore more straightforward cases, although again it confers no
obvious benefit to the child or her parents.
The occasional patient with a urogenital sinus complicated by urinary
stasis and/or infection may require an early surgical procedure.
3.
Complete Androgen Insensitivity Syndrome (CAIS)
(a)
These individuals have a 46 XY genotype, testes which are intra-abdominal
or contained in inguinal herniae, and no internal female genitalia.
The phenotype, however is of a normal female although the vagina is
invariably short and may be severely so. Few
will be diagnosed in the neonatal period, but some will present early with
hernia and raise the issue of early gonadectomy.
All will be raised as girls and early gender assignment is not usually an
issue. Later hormonal virilisation
is not, of course, possible.
(b)
Timing of gonadectomy
This remains
controversial and adequate data on which to base recommendations are scarce. 9,10,11
The foremost concern is the potential for malignant change and the age when this
may occur. It has been argued that
any such risk favours early gonadectomy but set against this is the possibility
that bone maturation and body development in puberty may be better if mediated
by the gradual and early emergence of endogenous sex steroids (aromatisation of
testosterone to oestrodial occurs normally in CAIS) compared to the somewhat
clumsy regimens of exogenous administration.
While one report has suggested an association between greater bone
mineral density and late gonadectomy there is insufficient evidence to recommend
it on that ground alone.12
In relation to
malignant change a comprehensive review in 1987 quantified the risk at 2-5% in
CAIS patients over 25 years of age, and the risk was deemed ‘small’ prior to
that age. 13 In a study
of 17 post-pubertal CAIS patients from Venezuela no malignant change was found. 14
There are
three possible options:
1)
Early gonadectomy, particularly if they are contained in an inguinal
hernia sac, or there are parental concerns over malignant change, or difficulty
in accepting a female phenotype whilst testicular tissue is present.
2)
Late gonadectomy performed as soon as puberty has been completed.
3)
No gonadectomy in patients who are as well informed as possible of the
potential malignancy risks. Follow
up of any such individuals would need to be assiduous and long term
It
has been suggested that cryopreservation of gonadal tissue should be undertaken
in those patients with AIS undergoing gonadectomy with a view to future
fertility treatment. Whilst the
techniques of freezing testicular tissue and reusing it are now established, the
ethical and moral issues surrounding these techniques are not clear even in the
non-intersex group. There is
currently a multidisciplinary working party convened by the British Fertility
Society looking at the issues surrounding cryopreservation and, until further
information is available, this committee does not recommend cryopreservation on
a routine basis.
(c)
Vaginal lengthening
Since there is
no prospect of menstruation in these individuals, and orgasm should be possible
in all, ‘satisfactory’
intercourse in relation to penetration is
the only physical indication for trying to increase vaginal length.
Various methods of self dilation are available and seem the preferred
option with reported success rates of 85-90%.15
The Vecchietti procedure 14
is favoured by some patients but unavailable in the UK, due to
non-approval of the bougie device, and there is anecdotal evidence that the
rapid (2-3 weeks) elongation produced by this manoeuvre leaves the vagina with
insufficient support and can lead to prolapse.
If total vaginal replacement is required sigmoid colon or ileum are
probably the best options but both skin or amnion grafts have their advocates.
4. The severely undervirilised genetic male
(a)
Conditions producing this state include partial androgen insensitivity
syndrome, 5-a
reductase deficiency, testicular regression syndrome and severe hypospadias.
Historically many of these genetically 46 XY individuals have either been
raised as females or surgially assigned as such (including castration) because
of what was deemed ‘surgically possible’.
Evidence for the effects of testosterone on the foetal brain, and
subsequent post-pubertal gender identity in humans is somewhat equivocal.17
However studies from areas such as the Dominican Republic and Papua New
Guinea on ‘untreated’ 5-a
reductase patients have shown a strong tendency to virilise at puberty and
almost 100% assumption of the male gender identity/role. 18
Furthermore, follow up studies by Reilly and Woodhouse on adult males with
micropenis (defined as less than 2.5 SD below the mean stretched length for ages
or stage of sexual development) have shown surprisingly good outcomes in terms
of sexual function. 19
(b) Assignment
of such individuals to the female gender by surgery should only be undertaken
with considerable caution and following full multidisciplinary investigation and
counselling of the parents.
5.
True Hermaphrodites/Mixed Gonadal Dysgenesis
Most of the issues in relation to these rare individuals have already been covered by the above but there is unequivocal evidence of a greater risk of malignant change in dysgenetic and streak gonads. 20,21 Streak gonads and any gonad inappropriate to the sex of rearing should, therefore, be removed and any retained testis should be placed in a palpable position for easier surveillance.
References
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American Academy of Pediatrics. Evaluation
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2.
Dreger, AD “Ambiguous Sex”…or Ambivalent Medicine?
Ethical Issues in the Medical Treatment of Intersexuality.
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3.
Kipnis, K., Diamond, M. Pediatric Ethics and the Surgical Assignment of
Sex. Journal of Clinical Ethics, vol
9:4, 1998, p 398-410.
4.
BAPS Ethical Committee. Gender Assignment Surgery in Children. Ethical
Position for Clinicians, 2000, www.baps.org.uk
5.
Ehrhardt, AA, Meyer-Bahlburg,
HFL. Effects of prenatal sex hormones on
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211, 1981, p 1312-18.
6.
Mosley, M, Bidder, R,
Hughes, I. Sex role behaviour and
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JL. Abnormal sexual differentiation and neoplasia. Canc
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insensitivity syndrome. Clin Endocrin
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Verp, MS, Simpson, JL. Op.cit.
14.
Alvarez-Nava, et al. Op.cit.
15.
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dilation. Fertil Steril, vol 67(2),
1997, p 229-232.
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3455-58.
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Imperato-McGinley, J, et al. A
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Small penis and male sexual role. J.
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Manuel, M, Katayama, KP,
Jones, HW. The age of occurrence of
gonadal tumors in intersex patients with a Y chromosome. Am.
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Savage, MO, Lowe, DG. Gonadal
neoplasia and abnormal sexual differentiation. Clin.
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