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Androgen Insensitivity Syndrome

Important Notes:
  1. This page was first published in 2000.  The text was soon amended to included feedback and some amendments requested by the Androgen Insensitivity Syndrome Support Group (AISSG). 
  2. Any speculations on this page (e.g. celebrities with AIS) are my own, and not those of the AISSG. 
  3. In May/June 2003 several women with AIS strongly objected to the content of this page.  They argued that AIS and Gender Identity Disorders are completely different conditions, and that it was inappropriate for their condition to be included on this site.  After a careful review of the objections, I still believe that there are enough physiological and legal similarities between AIS women and transsexual women to make this article appropriate for this site.

 

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, another hormone produced by the foetal testes simultaneously suppresses the development of internal female organs such as the uterus and ovaries.


Cindy Stone has the complete form of Androgen Insensitivity Syndrome.

There are two types of AIS: most (90%) suffers have completely normal female type external genitalia but they lack a uterus and upper vagina.  This is known as Complete AIS (CAIS), technically AIS Grades 7 & 6.  The remaining (10%) of suffers have Partial AIS (PAIS), their outward genital appearance varying 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").  Girls with partial AIS are often born with ambiguous genitalia, where it is not clear at first if the baby is a boy or a girl.  An enlarged clitoris can resemble a small penis, whilst the labia can look like a scrotum.  Whilst surgery can be performed to reduce the size of the clitoris and feminise the vulva, experts strongly disagree about when - or even if - the operation should be done.  For example, clitoral surgery in childhood may be aesthetically helpful for acceptance as a girl but can greatly reduce sexual sensations later in life, having a dramatic impact on satisfactory intimate relationships as an adult.

A woman with CAISAll CAIS and most PAIS babies (grade 3+) are brought up as girls because they are identified as being female at birth.  Even if the AIS condition is identified, a female upbringing is likely because they will:
  • externally have a female type puberty with female secondary sexual characteristics
  • be infertile as a man
  • never be able to function sexually as a man, but can have normal intercourse as a woman (albeit sometimes requiring surgery)

Decades of medical studies show that very few AIS suffers doubt their female gender.

An important exception is that for the rarest types of PAIS (AIS Grades 1 and 2) the external genital deformity is so minimal that a baby's gender assignment will be male.  Excessive breast development is likely to unexpectedly occur at puberty, but this can be removed by surgery and a few Grade 1 PAIS males are even fertile. 

 

Incidence

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 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 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.

Vulva, Vagina and Sex
The external genitalia (vulva) of a CAIS women is completely identical to that of a normal CIS-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. 

CAIS women typically have a a short, blind-ending, vagina (averaging 5-6 cm long, about half normal size but with great variance), which is rather too short for satisfactory penetrative sexual intercourse with a man.  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, gradually stretching it.  The girl should start dilation only when they feel psychologically ready, usually between the ages of 15 and 20 and contemplating entering in to a sexual relationship with a man.  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.

It's unfortunately not quite so simple for a PAIS woman.  Almost all PAIS women are born with an enlarged penis/clitoris, a partial obstruction to the vaginal opening, and little or no vaginal depth.  However it usually only requires a minor genitoplasty procedure to tidy up the vulva area and make it indistinguishable from a CIS-women, and to open up the vaginal opening for dilation.

 


Hayley Haynes and the twins - Avery and Darcey.

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. 

Adoption is by far the most realistic option if a woman with AIS and her husband want to become parents - Eden Atwood and her son Ben being a high profile example of this. The use of a surrogate mother is quite common for those couples with sufficient financial means - ideally the egg being fertilised by the husbands sperm.   

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) was used to make her pregnant - donated eggs were fertilized with her husband's sperm and successfully implanted into her uterus. 

Caveat: I have become increasingly puzzled about Hayley's story due to an accumulation of small issues:
  • A ground breaking case such as this would normally lead to a paper being published in a respected medical journal about a year later - but I have been unable to find any such paper.
  • Hayley had an "embryonic uterus" but there is no other recorded instance of an AIS woman having such a uterus.
  • Many AIS women have a strong desire to bear children and Hayley's treatment was relatively simple and cheap. An increasing number of similar successes would therefore be expected, but none seem to have occurred.
  • The Royal Derby Hospital won't confirm that Hayley was a patient - despite the numerous UK press reports in early 2015 saying that she was (The Mirror, The Mail, The Independent, ITV...)
  • There has surprisingly been no follow-up stories in popular magazines about Hayley and the twins
  • Hayley may have briefly been on Facebook in 2014/2015, but has since become invisible on social media.

Despite the world-wide coverage the story originally received, five years later I suspect that either Hayley's medical condition was not AIS, or that the whole story was a scam which no one wants to admit to falling for.

 


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 7Ĺ 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 childrenís 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.


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 couldnít 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 and very popular 22 year-old waitress whose body was found horribly mutilated and dismembered in Los Angeles in 1947.  The terrible murder has never been solved, but a leading theory is that the murderer was a suitor who became enraged when he discovered that she had an underdeveloped vagina.  A stripper who was a close acquaintance of Elizabeth told the police that she "liked to get guys worked up over her, but she'd leave them hanging dry" - 150 men were interviewed by the police after her murder!  It was also claimed that she never menstruated but would use a sanitary napkin to try to conceal this.  The autopsy report doesn't record anything that suggests that Elizabeth was not anatomically female, however it focuses on the extensive injuries to her limbs and breasts, and women with complete AIS have a female external appearance. 

As already indicated, medical papers frequently mention that various famous but always unnamed (or pseudonym) actresses and models have AIS.  The rumours are often 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".  A popular gossip website also poses the question "which Oscar-winning Hollywood superstarís doctor claims she was born a hermaphrodite, with undescended testes where her ovaries should have been? (and no, itís not Jamie Lee Curtis)"  [After research the possibilities seem limited to Charlize Theron, Frances McDormand, Hilary Swank (who have all adopted children) and Renťe 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 CatanoActress Nicole Kidman also often appears, despite her admission that she was seeking help for fertility issues - "Iíve done all the stuff you can possibly do to try get pregnant" - happily she subsequently seems to have been the natural mother of at least one child.


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 female 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). 

But the rumours are not always wrong.  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 modest breast development and the need to create a vagina suggests that she has partial (Grade 4 or 5) 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 mentioned, the actress Jamie Lee Curtis is very frequently cited as an example of a woman with AIS.  She has never confirmed this, 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.  A leaked medical document [which 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.  Incidental evidence is that Jamie's two children are both adopted. 


Kim Novak

Finally for this section, the movie siren of the 1950's and '60's, Kim Novak, is alleged to have AIS.  Like Jamie, there is no hard evidence for this, and the incidental evidence is limited to fact that she has never had children.  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 had 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.  "Itís 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, weíre somewhat at a disadvantage.  I could be taking steroids all day long, and unlike other women I wouldnít develop increased muscle mass.  My body canít 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: 1 April, 2020