The
AIS Support Group Australia is a peer support group providing information and
support to people with AIS and related intersex conditions and their families.
Introduction
Up to 8 weeks gestation every foetus, whether of typical male or female chromosomal sex, has the capacity to develop either a male or female reproductive system, and in a typical male (XY) foetus the active intervention of male hormones (androgens) is needed to produce a fully male system. A female body type with female external genitalia is the basic underlying human form.
What
is AIS?
Androgen
Insensitivity Syndrome
(old name Testicular Feminisation Syndrome) causes an interruption of the foetal
development of the reproductive system. In AIS the child is conceived with
typical male (XY) sex chromosomes. Embryonic testes develop and start to produce
androgens but the body is unable to respond to these androgens to a varying
degree. This means that the genitals can vary from completely female
if there is no response through to almost completely male if there is a slight
insensitivity to androgens or anywhere in between. So the external genital development continues along female
lines (the ‘backup’ route) but the development of female internal
organs has already been suppressed by a hormone (MIF or Mullerian Inhibitory
Factor) from the foetal testes.
A gene on the X chromosome controls tissue androgen sensitivity, and AIS is an X-linked recessive condition, inherited down the maternal line (or, in an estimated one third of cases, results from a spontaneous mutation). A mother who carries the variant gene has a 1:2 chance of any XY child having AIS and a 1:2 chance of any XX child being a carrier of the variant gene like herself, but XX individuals can be tested to see if they are carriers. AIS is a biological intersex condition, in which the reproductive organs/genitalia are partly at variance with the genetic sex.
Forms
of AIS
There are two forms; a
complete form (CAIS) where the tissues are completely insensitive to androgens,
and a partial form (PAIS) where the tissues are insensitive to varying extents
forming a spectrum of outcomes. At
the CAIS end of the spectrum the external genitalia are completely female (AIS
Grades 6/7) and the sex of rearing is invariably female.
In PAIS, the outward genital appearance can lie anywhere along a
continuum from completely female (Grade 6), through mixed male/female, to almost
completely male (Grade 1) and can vary somewhat between affected siblings.
Some people with PAIS are males, which supports the AISSGA’s position against childhood surgeries. The complete and partial forms may be caused by different variations at the genetic/ cellular level and do not usually occur in the same extended family.
Synonyms
 |
Androgen Insensitivity Syndrome, |
|
Androgen Resistance Syndrome, |
|
Testicular Feminisation Syndrome, |
|
Feminising Testes Syndrome, |
|
Male Pseudo-hermaphroditism, |
|
Goldberg- Maxwell Syndrome (CAIS), |
|
Morris’s Syndrome (CAIS), |
|
Lub’s Syndrome (PAIS), |
|
Reifenstein Syndrome (PAIS), |
|
Gilbert-Dreyfus Syndrome (PAIS), |
|
Rosewater Syndrome (PAIS). |
Other XY conditions with some AIS-like features:
|
5 alpha-reductase deficiency, |
|
17 keto-steroid reductase deficiency, |
|
XY gonadal dysgenesis (Swyer Syndrome), |
|
Leydig cell hypoplasia, |
|
Denys-Drash Syndrome, |
|
Smith- Lemli-Opitz Syndrome. |
XX conditions with some AIS-like features:
|
Mayer Rokitansky Kuster Hauser (MRKH) Syndrome, |
|
Mullerian
dysgenesis. |
Incidence
The most accurate figure currently available for CAIS comes from an analysis (1992) of a Danish patient register, suggesting an incidence of 1 in 20,400 XY births (hospitalised cases only, so true incidence probably higher). PAIS may be only about 1/10 as common as CAIS.
Effects (CAIS)
Even in the complete form there will be no ovaries, Fallopian tubes or
uterus, and the vagina will be blind ending and possibly short or absent.
The undescended testes can result in an inguinal (groin) hernia in
infancy and this is when the condition may come to notice in a female child
(~50% of cases). Otherwise CAIS may
not be discovered until puberty as a result of a girl not commencing her monthly
cycle.
Female
pubertal development occurs, because the testes produce some oestrogen, but
there will be no menstruation and no possibility of conceiving/bearing children. Some girls with AIS may develop some dark, coarse pubic/underarm hair
(AIS Grade 6) but this does not develop in true CAIS (Grade 7) because
androgen action is needed for its growth. The nipples usually remain
under-developed and pale in colour. The vagina may need to be lengthened before
sexual intercourse is possible.
The older literature sometimes states that girls with AIS are often tall, that the body form is ‘voluptuously female’, i.e. with very adequate breast development, and that the skin maintains a good condition, not being prone to acne (which is linked to the action of male hormones).
Gonadectomy (Orchidectomy)
There is a
small risk of cancerous changes occurring in the undescended testes after age
20, and many clinicians recommend their removal in women with AIS before this
time. Usually this is deferred
until the late teens to allow a spontaneous feminising puberty to occur, which
may have physiological and psychological advantages over one induced by
exogenous hormones. Note that girls with CAIS cannot be masculinised by hormone administration, because of their complete
insensitivity to androgens.
Although
the pre-adult risk of cancer is too small to justify it, gonadectomy is
sometimes done in infancy or childhood, usually with the intention of avoiding a
psychological crisis arising from explaining the need, later on, for such an
operation.
Obviously,
gonadectomies should not be performed on males with PAIS, as they produce
the testosterone needed for secondary sexual characteristics, although
additional testosterone treatment may be required.
HRT/Osteoporosis
When
the testes are removed from women with AIS after puberty, immediate long- term
female hormone replacement therapy (HRT) is needed to prevent menopausal
symptoms and osteoporosis (bone thinning) and protect against cardiovascular
disease. In the case of gonadectomy in infancy/childhood, HRT is often started
at 11, in order to initiate puberty.
Low
bone density seems to be more common in AIS women than in XX women. The cause is
not clear. Lack of HRT is a risk factor, although some AIS adults have a low
bone density in spite of regular HRT. Possibly, it is due to that fact that
‘XY girls with testes’ have lower oestrogen levels than ‘XX girls with
ovaries’ during the time when most bone development occurs. XX girls start
producing oestrogen at around age 8 (i.e. a year of two before breast
development starts) so supplementary low dose oestrogen from this age, with or
without gonads in place, may be advisable in AIS.[1]
However, the androgen insensitivity itself might contribute to a low bone
density in CAIS, irrespective of oestrogenisation.
AIS women
should be aware of their increased risk of osteoporosis, especially if they have
not used HRT continuously after gonadectomy.
Testosterone treatment in men with AIS will also help prevent osteoporosis.
Vaginal Hypoplasia
Generally
the top one-third of the vagina is missing in AIS but in some cases the vagina
may be no more than a centimetre or two in length, or even just a dimple.
Clinicians must not overlook vaginal hypoplasia in pubertal AIS patients,
because some youngsters discover this by self- examination and can live in fear
and isolation with this secret for many years.
Vaginal
hypoplasia (in both CAIS and PAIS) can be treated by the non-surgical method of
pressure dilation, performed by the girl herself at home. This is best deferred
until she has gone through puberty and is sufficiently motivated. It involves
minimal risk and expense, and results in a vagina that closely resembles a
typical one. In some cases, the Vecchietti procedure, which is a semi-surgical
way of accelerating dilation, has advantages.
There are a number of plastic surgical methods of lengthening the vagina using skin grafts, sections of intestine etc. These all have many disadvantages, and should be used only when less invasive treatments have been ruled out. Vaginoplasty in early childhood usually has poor results and should not be done.
Facing
the Diagnosis
Some
clinicians/parents cling to an old-fashioned, paternalistic attitude and, in a
misguided attempt to spare the patient inner conflict, withhold the
genetic/gonadal information, but most professional carers now recommend truth
disclosure with psychological support/counselling.
Otherwise patients will seek diagnostic information via medical libraries
or the Internet and bear the burden alone and in silence. Many will wrestle with
perplexing half-truths, or reach false conclusions (e.g. that gonadectomy =
cancer).
If
the parents’ emotional
needs/anxieties are addressed first (via psychological support/counselling from
professionally trained staff) it will be easier for them to provide effective
support to their child. Everyone will feel better if there are no taboos about
the subject. Talking, like grieving, is therapeutic, enabling feelings to be
confronted and resolved. Pushing the matter under the carpet is just storing up
psychological trouble for later. It is important that parents encourage
discussion with their child, and actively seek out information on their behalf.
Unfortunately, keeping the condition a secret can become more important to some
parents than acknowledging their child’s need for emotional support and
appropriate clinical intervention. It wastes mental/emotional energy that is
better spent in helping the child come to terms with the truth.
The
rights of the patient to assign meaning and validity to his or her condition via
a diagnosis, and to seek out a support group, must be considered. Meeting
others who are affected is vital and is probably the
single most useful therapeutic measure. Doctors may have over-emphasized the
extent to which knowledge of their genetic/gonadal status causes lasting
distress to AIS women. CAIS adults tell us that, in the long- term, their XY
chromosomes and testes would have been of no material relevance to them – were
it not for the isolation, sense of freakishness and stigma which results from an
apparent unacceptability of their biological status in the eyes of adults around
them– since they have a normal feminine gender identity. In CAIS, the person
will look like a girl, and problems of psychosexual identity as a biologically-
determined feature of the condition are unlikely. In CAIS, leanings towards
heterosexuality, lesbianism or bisexuality seem no different from females in
general.
But
over-emphasis on a CAIS patient’s femaleness with an unwillingness to allow
exploration of her very real female deficiencies (lack of internal female
organs, pubic hair, and menstruation, with possibly a diminished vaginal length)
will suggest to her a very considerable anxiety and discomfort on the part of
doctors/parents. Preparing the youngster for intimate personal relationships as
an adult should be a priority, tempting as it may be to divert attention away
from sexuality issues and towards substitute goals.
Many issues with Males with AIS centre around the lack of adequate surgical techniques and the reluctance by many to accept that men with AIS exist.
Aims of the Group
• To reduce the secrecy, stigma and taboo surrounding AIS and other intersex states, by encouraging doctors, parents and society to be more open.
•
To put parents and people with AIS and related conditions in touch
with each other in a safe and confidential environment and encourage them to
seek support and information.
•
To encourage the provision of psychological support within the medical
system, for young people with AIS and their parents.
•
To increase the availability of information on AIS both verbal (from the
health professionals) and written (from the support group and other sources).
•
To encourage improvements in the treatment for men and women with AIS in
both surgical and non-surgical means.
•
To encourage research into Gender Identity and Sexual Identity issues.
Membership/Meetings/Publications
The AIS Support Group Australia offers support, information and advocacy for those with AIS and related intersex conditions and their families. We have members and supporters in many countries including Australia, New Zealand, the UK and the USA. Our membership includes people with AIS, related intersex conditions, their families and supportive medical professionals. Publications include our newsletter "dAISy" (~ 2 per year). Membership (A$20 per year for Australian members) includes a yearly subscription of dAISy with two previous issues, an invitation to our meetings, and access to information and support. For a sample newsletter and subscription details send A$5 (payable ‘AIS Support Group (Australia)’). Please also note that we have a special sub-group for Men with AIS, with Male members in the UK, US and Australia.
References:
[i] Advised by Dr. Richard Stanhope, Consultant Paediatric Endocrinologist, Gt. Ormond St. Children’s Hospital, London.
PLEASE NOTE: The AIS Support Group Australia is not, and never have been a branch of the AISSG (UK). We are an independent organisation.
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