CAIS: "The worst was the uncertainty"

01.03.2007

She had always suspected that she was different from other people. With 21 she knew it for sure because of the medical records of her childhood and youth that she was never allowed to see herself and that was kept in the archives of a university hospital. That used to be the location to where she had to return every six months in order to be examined since she was four years old. Nobody ever told her why. "The worst was the uncertainty," she says today, "not the diagnosis." Which the 28-year-old received only seven years ago.

Back then a medic from an institute for the human genome was the first who talked to Sara* sincerely about the secret that doctors had always spoken about behind closed doors with her mother. Openly, matter-of-factly and competently the woman said that inside Sara's cells the chromosomes of a male reside. She had CAIS - complete androgen insensitivity syndrome. This is a genetical defect resulting in androgen receptors that do not funtion: Even though a child has the disposition for a male it does not exhibit visible male sexual organs but female ones. Therefore the message in the delivery room is: "It is a girl."

Nobody knows how many people with this particularity live in Germany. Nobody ever counted because the knowledge about this genetical defect is rather new. The first record about an androgen insensitivity syndrome was published as recently as 1953 by a doctor in the United States. His patient had been a woman with breasts, outer female sexual organs and only little pubic hair. The left and right groins were swollen because of inner testis as discovered during surgery. A uterus and fallopian tubes were not present.

Today medics know how this can happen: A long time before birth there is a phase where the inner and outer dispositions for the sexual organs for girls and boys are the same in the embryo - this is called a neutral state. If the foetus posseses a male genome then the Y-chromosome triggers the testis to grow. These then start to produce male hormones but since the receptors for androgens do not work in people with CAIS it seems as if there were no androgens present. If the foetus does not receive androgens in the neural state the outer sexual organs become female automatically. A life between the gender takes it beginning.

A study at the institute for sexual research and forensic psychiatry in Hamburg, Germany looks closer at this phenomenon. A group of researchers interview intersexual people all over Germany in order to obtain more knowledge about the different manifestations and to develop improved guidelines for treatment. "Intersexuality means that an organism exhibits the sexual characteristics of both sexes or it means that the characteristics cannot be assigned properly," explains the psychologist Lisa Brinkmann, who contributes to the project. "8.000 to 10.000 intersexual people live in Germany with one of the many different diagnosed forms."

One of these forms is CAIS and this particularity mostly stays undiscovered for many years. Often the genetical defect shows during puberty when menstruation fails to appear and the gynaecologist discovers that there is no uterus. With a bit of luck the young people have a sensitive doctor who knows about this condition. Many women experience something different: "I had a gynaecological examination. Seven doctors surrounded me who were listening intensely to the words of a professor - all taking a look between my legs. The examination was painful and I just wanted to die out of shame" - this is a statement out of a personal story from the internet pages of the XY-women, a contact group for people with an androgen insensitivity syndrome.

Often CAIS is already discovered in babies and young children because they suffer a hernia and medics discover during surgery that the testis located inside the body are to blame. That was the case with Sara when she was four years old, zero hour of secretiveness. Her mother never talked to her about the reasons for the permanent doctor's visits, the medics asked her about school and marks instead of speaking to her. Not even when she was already far in her teens. "The appointments in the hospital were a complete horror for me but I just let them do it and I never asked why", says Sara and shrugs her shoulders. "I was not even surprised when I did not begin to menstruate during puberty. I already knew that something was wrong with me."

A long time the silence of the doctors was general practice because the guidelines for treatment in the 50s to 70s advised medics to be careful with informing about the diagnosis and to not necessarily tell patients the whole truth. The reason: fear about psychological consequences for the patients. On top of that shame and speechlessness entwined around anything having to do with sexuality. "We hope that the study concerned with intersexuality clarifies things and we hope to reach doctors. There certainly still exist problems in small hospitals and in the countryside with doctors having practised for more than 40 years and then for the first time coming across CAIS", explains Brinkmann.

However, to be open and sincere seems to be right reaction to CAIS - this is what people affected tell. The same is true for Sara: For her the day of diagnosis that she had after all organised herself with the help of a new gynaecologist was a day of euphoria. "After all this time I knew what happened to me," says Sara. Later, after months, she began to question things. These were difficult two years but she needed them in order to find her place in life since society does not make it easy for intersexual people. Everything is separated into male and female: the passport demands a Mister or Misses, the bathroom belongs to ladies and gentlemen, books fill bookshelves that state that women come from Venus and men from Mars. These are role-plays difficult for intersexual people to arrange with.

Many months Sara felt as if she was hanging from a pendulum that swings back and forth between being a man or being a woman. Until the swinging got less and eventually the pendulum stood still "Then I was solely I," says Sara and smiles. "I neither feel female nor do I feel male - I only feel how I as Sara feel." A long time Sara observed other people and she came to a conclusion: "All people are in their manner something different with their little specialities." It was not possible to categorise humans. Now she is doing fine.

Wiebke Heiss
REHACARE.de

*Name changed by editors