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Androgen Insensitivity Syndrome

I established this page in 2000, it seemed to be generally well received and I incorporated feedback received from various relevant sources.  I was thus surprised when in May/June 2003 several ladies with AIS strongly objected to the content.  After a careful review I believe that the article is reasonably balanced, and that there are physiological and legal relationships between AIS women and transsexual women that make it appropriate for this site.  I appreciate comments from anyone mentioned on this page, and also welcome constructive criticism.

Important Note: Any speculations on this page are my own, and not those of Androgen Insensitivity Syndrome Support Group (AISSG).  The text includes amendments made at the request of an AISSG official.

 

Many thousands of women around the world suffer from a disorder known as Androgen Insensitivity Syndrome (AIS), or in old text books as Testicular Feminisation Syndrome.  The syndrome is of great interest because it conclusively proves (though perhaps still not to some judges and lawyers) that women can have XY genes, a fact which has considerable significance for genetically XY Male-to-Female (MTF) transsexuals.

Some speculation suggests that Ann Coulter may suffer from AIS Women with AIS look and feel like typical women, and in every practical, social, legal, and everyday sense they are women, even though congenitally they have testes and XY chromosomes, and can never bear children.  The fact that a "woman" has AIS and is genetically a "male" is often not discovered until puberty, when she does not start to menstruate and a gynaecological examination reveals the syndrome.
(The above two paragraphs are based on material from the literature of the Androgen Insensitivity Syndrome Support Group (AISSG).


XY Genes - so Boy or Girl?

Unlike with MTF transsexual women, no court has ever disputed the right of an AIS woman to legally marry a man and adopt children on the grounds that she's actually genetically XY male.  However, an adult AIS woman is physically (internally and externally) almost indistinguishable from a MTF transsexual woman who started surgical and hormonal treatment before puberty, so clearly there is a major issue and injustice here. 

Medical Background of AIS
Every foetus, whether genetically male (XY) or female (XX), starts life with the capacity to develop either a male or female reproductive system.   In AIS the child is conceived with male (XY) sex chromosomes and normal embryonic testes (known as the foetal gonads) develop and start to produce masculinising androgens.  However with AIS, a rare genetic condition carried on the X chromosome means that the foetus has no receptors for these male hormones, and his/her body can't "see" or acknowledge them.   Lacking the effect of these androgens, the external genitals develop along female rather than male lines.  Unfortunately however, another hormone produced by the foetal testes simultaneously suppresses the development of female internal organs (uterus and ovaries).


Cindy Stone has the complete form of Androgen Insensitivity Syndrome.

There are two types of AIS:  most (90%) girls have completely normal female type external genitalia, but they lack a uterus or upper vagina.  This is known as Complete AIS (CAIS), technically AIS Grades 7 & 6.   The remaining girls have Partial AIS (PAIS), their outward genital appearance usually lying anywhere from almost completely female (AIS Grade 5) through to almost completely male (Grade 1).  

In PAIS, the foetus showed some response to testosterone (thus the term "partial").  Often girls with partial AIS are born with ambiguous genitalia, where it is not clear at first if the baby is a boy or a girl. If the clitoris is enlarged, it can resemble a small penis, and changes in the labia can make it look like a scrotum. Surgery can be performed to reduce the size of the clitoris, although some experts strongly disagree about when - or even if - the operation should be done. (Clitoral surgery in childhood may interfere with sexual sensation later in life, having a potentially dramatic impact on the girl's intimate relationships as an adult.)

A woman with CAISAll CAIS and most PAIS babies are reared as female because they will:
  • have a female type puberty
  • be infertile as males
  • not be able to function sexually as a man but they will be able to do so as a woman.

In some types of PAIS (AIS Grades 1 & 2) the male genital deformity is so minimal that a baby's gender assignment will be male.  Excessive breast development is likely to occur (often unexpectedly!) at puberty, but this can be removed by surgery and some PAIS male may even prove fertile. 

The most accurate figure available for the incidence of CAIS comes from a 1992 analysis of a Danish patient register, suggesting an incidence of 1 in 20,400 XY births.  This includes hospitalised cases only so true incidence is probably higher.  PAIS seems to be only about 1/10 as common as CAIS.


"Jackie" featured in at least two UK women's magazines in 2004 (pictured from behind or carefully angled).  The articles emphasised the mental distress that discovery of an AIS condition causes an otherwise normal teenage girl.

Anne Fausto-Sterling in her excellent book, Sexing the Body: Gender Politics and the Construction of Sexuality, suggests that the actual incidence of AIS is about 1 in 10,000 - which would imply up to 3000 people (male and female) suffer with CAIS or PAIS in the UK alone.  As support groups and surveys have identified only about 500 such people in the UK, clearly there is still a major hidden problem.

Puberty
At puberty girls with AIS experience a female pubertal development because their hidden testes produce sufficient oestrogen to induce development of the breasts, hips genitalia, etc. (if the testes have been already removed, larger oestrogen doses will be given at age 12).  The body of an AIS girl not only fails to develop masculinity at puberty, but also develops even further in a feminine direction, causing the body appearance to simulate an adult XX female. 


Ilizane Broks (age 16) and sister Xenia (6).  Ilizane considers herself "more female than male", while Xenia is much more "girlie".

Shortly after puberty starts, an orchiectomy will often be performed to remove the testes (primarily to reduce risk of cancer), and Hormone Replacement Therapy begun to substitute for the oestrogen that the testes were producing.

Warning!  May be offensive
Examples of the physique of AIS woman - warning, potentially offensive.

In appearance the overall body shape typically becomes very decidedly feminine, with a classical female pattern subcutaneous fat distribution and generous breast development - large breasts with pale, under-developed, juvenile appearing nipples are one indication of AIS. 

Girls with CAIS will either fail to develop pubic and auxiliary hair (AIS Grade 7), or it remains scant (Grade 6).

Sexual Orientation
Studies have apparently found that most, although certainly not all, women with complete androgen insensitivity syndrome (CAIS) have no problems with their female gender identity and unambiguously identify themselves sexually as a woman, often leading normal sex lives.  Statistically their leanings towards heterosexuality, lesbianism or bisexuality may be no different from females in general.   


Niamh - a lovely young woman with AIS.  She briefly had a website in 1999.

However it must also be recognised that AIS women have both physical and psychological factors that might predispose them to suffer sexual dysfunction, e.g.: shorter than average vaginas, an inability to respond to androgens and anxieties or concerns about their condition, which could impact on self-esteem, body image, sensuality and sexual function.  At least one study found that sexual dysfunction is common in CAIS, most significantly in the areas of difficulty with vaginal penetration, infrequency and non-communication.

A rough analysis of biographies and articles published on the Internet by or about AIS women shows that while many are married or strongly attracted to men, an unusually large proportion have a lesbian or bisexual orientation.  But there may well be a bias in these results compared with the actual situation.  Speculating considerably, a lesbian or bisexual orientation may be more prevalent in PAIS (rather than CAIS) women where greater social, physical and biological challenges to their female psychosexual sexual identity have occurred at a young age, these problems may have made such women more likely to openly state their situation and adopt an activist position than a far more numerous group of happier and often married heterosexual women who are reluctant to publicise their AIS condition. 


Eden Atwood and her mum.  Eden is an actress and wonderful jazz singer, with an amazing life story.

Sex
The external genitalia of a CAIS women are absolutely identical to that of a normal woman, both in appearance, structure and sensations.  Given adequate vaginal depth, there is no reason for a CAIS woman and her partner not to enjoy sexual intercourse just as much as any other couple.  Things may not be quite so simple for a PAIS woman, but if desired modern feminising genitoplasty procedures can usually "correct" the external genitalia, again making them indistinguishable from other women. 

A short, blind-ending, vagina (averaging 5-6 cm long, about half normal size - but with great variance) is present in girls with CAIS, but even this is often lacking in girls with PAIS.  Thus before sexual intercourse becomes possible, most girls with AIS must deepen their vagina.  In general the best method involves dilation, in which a doctor or nurse teaches the young woman how to use an instrument called a dilator to put pressure on the inside of her vagina.  The girl should start dilation only when they feel psychologically ready, usually between the ages of 15 and 20.  Over a few months of daily exercises, the vagina becomes deeper and wider, making intercourse possible.  Surgical procedures can also be used to lengthen the vagina, but as surgery has more complications than dilation it is avoided if possible.

Some girls and women with CAIS, and almost all of those with PAIS, are born with a partial obstruction to the vaginal opening, and an enlarged penis/clitoris.  Before dilation can be safely started they will need a minor surgical procedure to open up the vaginal opening, if this has not already been done.  If desired, it is also possible at this time to reduce the penis/clitoris.

Reproduction and Children
Since women with AIS don't have a uterus, ovaries, or eggs there is unfortunately no possibility of menstruation and pregnancy, or her being able to have biological children by any means.  Advanced new fertility treatments are starting to offer significant hope for AIS women desperately wishing to have children.  Indeed on 24 December 2014, Hayley Haynes became the first women with AIS to give birth - and to twins!  Extensive hormonal development had stimulated the development of her embryonic uterus, and then in vitro fertilization technology (IVF) used to make her pregnant - donated eggs were fertilized with her husband's sperm and successfully implanted in to her uterus.

But realistically, adoption will long remain the most realistic option if a woman with AIS and her husband want to become parents.  The use of a surrogate mother is also quite common for those couples with sufficient financial means.


11 year old Kylee Whitcher suffers from AIS, pictured with her mother.

Appearance
Women with AIS present a typically female appearance (technically, they are phenotypic female).  Researchers have noted that their body shape does not deviate much from that of normal females but that they tend to be larger in all body measurements, although with a tendency to a slim body.  This is thought to be because body shape is controlled by oestrogen while the "Y" chromosome is mainly responsible for growth (the absent androgens would have only a small additional effect). 

Post-puberty, AIS women are typically tall for a woman, averaging about 5 feet 7½ inches (171.5 cm), this is just over an inch (3 cm) less than the average man but about 3 inches (8 cm) more than the average woman.  However, this average is based on the study of adult women who generally did not have childhood oestrogen or HRT treatment.  Such treatment can accelerate the completion of growth in the growth plates (the zones of growing cartilage near the ends of children’s bones) of AIS girls, thus helping prevent excessive adult height.  The generation of AIS girls currently emerging into early adulthood have often benefited from such early supplemental oestrogen therapy and it's therefore presumed that their average height is somewhat less - indeed at least one young woman blames her rather short 5ft 2in stature on excessive early HRT.


I was kindly sent this picture by an anonymous lady, a tall but attractive appearance is typical of many AIS women.

There will also be some slight masculinisation of the skeleton, with proportionally longer legs and arms, and larger hands and feet than the average XY woman, and the size of teeth is closer to men than those of women.  [For more information on average male and female body sizes, see the article on this site].

Due to the lack of androgen affects the girl will not suffer from acne or temporal hair loss, and little or no pubic hair and auxiliary body hair will develop.

The overall effect is that AIS women tend to be exceptionally beautiful with above average height (for a woman), long and well-proportioned legs, generous breasts, good teeth, exceptionally clear skin and thick scalp hair.  According to one paper the AIS woman is "often voluptuously feminine", another report says "some people with the syndrome look like 'mama mia' women", and even John Money and A. Ehrhardt in their famous book Man and Woman, Boy and Girl noted that AIS girls tend to have a "very attractive female physique".   


A glamour shot of actress Jamie Lee Curtis, strongly rumoured to have AIS.

Unsurprisingly it's been reported "because they [AIS women] are unusually beautiful, they are usually found in occupations that pay high salaries for attractive female appearance such as modelling, acting or prostitution".  

This is supported by other AIS studies, for example one study found that several top fashion models and two well-known [though unnamed] Hollywood actresses had AIS, an Australian study concluded that "many girls work as models", and another report noted that one of the girls it had studied was an (unnamed) famous photographic model, two were air stewardesses and one a prostitute.  "In the old West, women with AIS were reportedly popular among the ranks of prostitutes," notes Vikki Huffnagel, a Californian obstetrician/gynaecologist who treats AIS patients. "They were tall, lean, very attractive, and couldn’t get pregnant."

Despite the above comments, it is certainly an extreme exaggeration to suggest that every AIS woman is a potential supermodel; nevertheless it seems that the physiological traits associated with at least CAIS are, on average, likely to increase the attractiveness of a woman with that condition to men.

Famous Woman with AIS
The first historical description of a woman apparently suffering from Androgen Insensitivity Syndrome is in the book Talmud, which dates back to BC400.  Other women suspected (based on supposition from limited evidence) to have had AIS include:

  • Joan of Arc - descriptions of the 'maid' are appropriate to the condition, for example she was twice intimately examined to verify she was indeed a woman but apparently never menstruated;
  • Queen Elizabeth I - descriptions of the 'virgin queen's' appearance, behaviour and the physical defects which her contemporaries believed made her sterile and unwilling to marry, all strongly imply a form of AIS; and
  • Mrs Wallis Simpson - from the supposed testimony of her doctor and acquaintances.

Joan of Arc (Jeanne d'Arc)

Queen Elizabeth I of England

Mrs Wallis Simpson and HRH
the Duke of Windsor on their
wedding day, 3 June 1937

Madonna and Child, by Leonardo da Vinci c. 1482

Sam Berry, Emeritus professor of genetics at University College London, has also speculated (Daily Telegraph, 21 November 2001) that the Virgin Mary had Androgen Insensitivity Syndrome, but with differentiation of her sex organs.  He claims that it is possible for a person of this constitution to develop an ovum and uterus, "If this happened, and if the ovum developed parthenogenetically [i.e. unfertilised - common in some animals], and if a back-mutation to testosterone sensitivity took place, we would have a situation of an apparently normal woman giving birth without intercourse to a son." 

Elizabeth Short
Elizabeth Short

In America, the notorious Black Dahlia murder case (the basis for a movie released in 2006) may sadly be related to a AIS condition.  The Black Dahlia (aka Elizabeth Short ) was a beautiful 22 year-old would-be actress whose body was found horribly mutilated and dismembered in Los Angeles in 1947.  The terrible murder has never been solved, but one theory is that the murderer was a suitor who was totally enraged when he found out that she could not have intercourse due to her underdeveloped vagina.  It's been claimed that according to people who knew her very well that she never menstruated, but would use a sanitary napkin anyway to help conceal her condition.  However the contemporary autopsy doesn't note anything odd about her genitalia, so the question remains open.

As already indicated, medical papers frequently mention that various famous but always unnamed (or pseudonym) actresses and models have AIS.  The fires are fanned by semi-reputable sources, e.g. a link on medhelp.org claims that "there are at least two well-known American movie stars who are XY women", whilst quiz questions such as "which Oscar-winning Hollywood superstar’s doctor claims she was born a hermaphrodite, with undescended testes where her ovaries should have been? (and no, it’s not Jamie Lee Curtis)" don't help.  [I couldn't help put try to answer this question: the possibilities seem very limited - Charlize Theron, Frances McDormand, Hilary Swank (who have all adopted children) and Renée Zellweger]
 
supermodels.jpg (13672 bytes)
Linda Evangelista (left) and Cindy Crawford (right) with actress Bonnie Pfeifer.  By 2000 both Linda and Cindy had been pregnant.

For obvious and understandable reasons, women with the AIS disorder are very unlikely to admit or confirm that they have it (Eden Atwood is a rare and brave exception), while women mistakenly alleged as having AIS are very unlikely to submit to the indignity of medical examinations and karyotype testing for XY genes in order to convincingly disprove it.  Nevertheless, speculation and rumour about possible famous women who have AIS is rife in popular magazines, newspapers, and particularly on the web - usually backed up with little or no real evidence other than lack of children.  For example, a search of the internet (12 April 2008) suggests as possibly having AIS the ultimate female icon Marilyn Monroe, and other actresses such as Katherine Hepburn, Jessica Biel, Daryl Hannah and Adriana Catano.   Actress Nicole Kidman also appears, very  implausibly given her admission of seeking help for fertility issues - "I’ve done all the stuff you can possibly do to try get pregnant" - and a traumatic miscarriage in 2001.


Hanne Odiele age 27 

Supermodels are often rumoured to have AIS because they fit the stereotype of the syndrome very well - tall, slim, generous bust, wonderful complexion, voluminous hair, big smile, very pretty and attractive, but not delicate and petite.  Essentially any top model reaching 35 without children is susceptible to rumours that she has AIS, or is even a transsexual - rumours which are often disproved.  For example Cindy Crawford was a victim of the rumour mill in the mid-1990's, but gave birth to a son in 1999 (age 33).

In January 2017, Belgium born model Hanne Gaby Odiele bravely disclosed that she had AIS in the hope that this would help to break the stigma around the topic and support intersex children.  She had her testes removed age 10 to avoid testicular cancer, and surgery to create a vagina age 16. Her slight breast development and other indicators suggest she has partial rather than complete AIS.

 
jamie.jpg (10007 bytes)
Actress Jamie Lee Curtis and her sister, Kelly Lee are alleged to suffer from AIS.

As already hinted, the actress Jamie Lee Curtis is very frequently cited as an example of a woman with AIS, this is certainly not confirmed but there does appear to be an unusual amount of "smoke" in this particular instance.  Every time a medical study hints that that unnamed famous actress has AIS, Jamie is always associated.  One report [which I admit I can no longer find] specifically stated that she was born with Partial AIS (Grade 3), in which case she would have required plastic surgery similar to that undergone by MTF transsexuals to normalise her genitalia as female and create a neo-vagina (Jamie's two children are both adopted).  


Kim Novak

Finally for this section, the stunningly beautiful movie siren of the 1950's and '60's, Kim Novak, is alleged to have AIS.  Given her lengthy series of lovers and husbands and the limited surgical techniques available at that time, if true then she was presumably born with Complete AIS and adequate vaginal depth for satisfactory sexual intercourse.

Sport and AIS Women
AIS women are obviously genetically XY male, and allowing them to compete in sports as women has been a source of tremendous controversy since the 1960's.  Women with AIS do seem to be either unusually good at sports, or are perhaps more likely to take up sport than other women.  Top female athletes have often been found to have AIS when sex tested, reportedly 1 in 500 women athletes of international standard suffer from AIS, which is an order of magnitude greater than current estimates that about 1 in 5000 women in the general female population have AIS.  There's considerable competitive interest in this association as it has been suggested that Complete AIS represents a valuable model for female performance in sports.


Erika Coimbra has AIS, she competed as a woman in the 2000 Sydney Olympics.  Pictured three years later.

Pumping women athletics full of male hormones was a common practice in the old Soviet block but it wouldn't work with an AIS woman.  "It’s sheer lunacy to think that an AIS woman has an advantage in sports," explains Sherri Groveman, who helps runs an AIS and intersex support group "In fact, we’re somewhat at a disadvantage.  I could be taking steroids all day long, and unlike other women I wouldn’t develop increased muscle mass.  My body can’t respond to androgens." 

If AIS women do have any physical advantage in sports then it probably lies in the fact they often tend to be taller and their skeleton nearer to male than female in structure, although their musculature and body fat distribution is always typically female.  [Without wanting to argue with Ms Groveman, the author of this article does wonder if this skeletal advantage explains at least some the exceptional success of AIS women in the sporting field.   For example, it appears that the average AIS woman is in to the top 10% of the overall female population in terms of height, is it then only a co-incidence that AIS women over succeed at the top level of women's sports by a factor of 10?]

Note: For more information or help regarding AIS, the Androgen Insensitivity Syndrome Support Group (AISSG) has an excellent site at http://www.medhelp.org/www/ais/. Included among the excellent articles is an extract from the book 'Woman - An Intimate Geography' by Natalie Angier, which in part sensitively considers AIS and the life of one AIS woman.

 


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Last updated: 8 July, 2014