There are many different words people use to define themselves. Most people think of them as easily definable, such as sex, gender, marital status, race, occupation or even astrological sign. However, most of these classifications are not as cut and dry as it seems. For example, with respect to sex, two categories are not always enough and recently a third category had to be added. People with Androgen Insensitivity Syndrome, or AIS, often fall in the last category called intersex because they are not completely male or female. It may be hard to imagine but there are many kinds of effects a condition like AIS has on the individuals’ psychological well-being. AIS also raises some uncomfortable issues about gender identity. How is it that a woman can be born with testes but no womb? For generations, girls with AIS and their parents have struggled to understand this apparent contradiction.
In order to better understand the psychological effects or the effects AIS has on gender identity, it is important to first understand the many complex issues surrounding this condition, including physical effects, treatment options, controversies and more. Though sex is decided at the exact moment of conception, every human fetus has the potential to develop into either a male or a female. Sometimes problems occur inside the fetus (or more specifically their genes) that causes the baby’s body to develop abnormally, resulting in a genetic disorder. Genetic disorders can be either spontaneously mutating ones (which can affect everyone equally) or inherited ones (which are passed down in families). Androgen Insensitivity Syndrome, which is both spontaneous and inherited, is a rare but complex condition that doctors have been studying for centuries.
AIS is an X-linked recessive gene disorder or a male limited autosomal dominant, basically meaning that it is a non-sex chromosome disorder that produces the same phenotype effect (being observable physical characteristics of an organism) whether it is inherited with a homozygous (having the same alleles on the same chromosome) or heterozygous (having different alleles on the same chromosome) gene. Approximately two-thirds of all AIS cases are inherited, or passed down by mothers to their unborn babies. The mothers in these cases do not have AIS but are carriers of defective X chromosomes that contain the disorder (AIS Support, 2003, p.6). Carriers have a 1 in 4 chance of having a child with AIS, a 1 in 2 chance if the baby is male and a 1 in 2 chance that a female baby will be a carrier (Warne, 1997, p.14). The other one-third of the cases are the result of spontaneous mutations. However, no accurate estimate exists for how often this syndrome really does occur. It has been thought to be as low as 1 in 65,000 or as high as 1 in 2,000 genetic male births. One of the reasons for the differing estimates is that the disorder is not always noticed at birth (AIS Support, 2003, p.5).
AIS affects male fetuses by rendering their bodies insensitive to the androgen produced during gestation. In a normal XY male, the Y chromosome is responsible for starting the process of growing the testes. Once formed, the testes act as the site of production for androgen, the name of the masculinizing hormone (AIS Support, 2003, p.1). The testes also produce MIH or mullerian inhibiting hormone. The job of the MIH is to cause the fetal mullerian ducts to regress, which makes sure the fetus lacks a uterus, fallopian tubes, cervix, and upper part of the vagina (Genetic, nd, p.3). The X chromosome, on the other hand, holds a gene responsible for making certain body tissues capable of recognizing and reacting to the androgen that the testes produce.
In complete AIS fetuses, the Y chromosome acts as it would in a non-AIS male to prevent the growth of internal female organs, but the X chromosome, while not exactly defective, contains a flawed Androgen Receptor (AR for short). The AR gene is responsible for reacting to the androgen, so when the gene is flawed the body is left completely insensitive to them (Wilson, 2003, p.1). Even if the body tries to compensate for the flaw and produce extra androgen, it would have no effect, as the body is still incapable of sensing any amount of androgen in its system so it can develop normally (Warne, 1997, p.11). At the same time the body’s cells cannot react to testosterone, so that Wolfian structures (epididymis, vas deferens and seminal vesicles) never develop. As a result, the external genetic organs appear female, though somewhere inside are testes.
According to the original findings by J.M. Morris, when the AIS is complete, it affects the body in several ways. It can be seen in the shape of the female body, large breasts with juvenile nipples, absent/or minimal axillary and pubic hair, balding, female external genitalia with small labia, blind-ending vagina, absent or rudimentary internal genitalia, gonads consistent histologically with cryptorchid testes (testes hidden in the abdomen at birth), hyperplasia of interstitial cells (adenoma), estrogen and androgen producing testes and finally increased gonadotrophins (a hormone that stimulates the growth, activity and function of the testes or ovaries). No ovaries, fallopian tubes or uterus will ever develop. In some cases, there is even no vagina, while still others have a short or blind-ending one. Although there is no menstruation or possibility of conceiving/bearing children, females with complete AIS go through some pubertal development. Pubic and underarm hair will not develop with complete AIS because that requires androgen sensitivity. In most cases, the nipples stay under-developed and pale in color, while the vagina requires lengthening (through a surgery called vaginal hypoplasia) in order to allow sexual intercourse (AIS Support, 2003, p.2).
AIS females are often tall and have good skin, as acne is created when oil-producing glands in the skin are stimulated by the androgen, which AIS girls’ bodies can’t recognize (Warne, 1997, p16). Although the body is insensitive to androgen, it produces and reacts to the estrogens that are delivered because the estrogen has a receptor separate from the one for androgen (Warne, 1997, p.11). Estrogen enters the body in two or three ways. First, the body, or more specifically, the testes, will produce a small amount. Secondly, estrogen is produced in the fat tissue from testosterone. And lastly, in some cases, patients with AIS are given estrogens as part of an estrogen replacement therapy, given following a gonadectomy. This leads the body to have an abundance of estrogen, which will result in ‘extreme feminine’ features because no androgen exists to oppose the estrogen (AIS Support, 2003, p.2).
AIS is considered a biological intersex condition, which means that the person’s genitalia differs from their genetic sex. AIS is different from both a sex chromosome disorder, where the normal XY makeup doesn’t exist, and from gender dysphoria, where a person experiences anxiety, depression or unease about their sexual identity. AIS is also different from transsexuality, where the person either wishes to be considered by society as a member of the opposite sex or they have undergone a sex change (AIS Support, 2003, p.4).
Descriptions of a condition with symptoms similar to AIS were mentioned as early as 400 B.C. in the Talmud. In fact historians believe some famous people may have had it, including Joan of Arc and Queen Elizabeth I. In 1817, a woman who had un-descended testes, but was otherwise feminine became the first report made by a doctor of an AIS patient. In 1906, an American geneticist named Diefferbach first provided evidence of the hereditary pattern for AIS. Then, in 1937, a doctor discovered that any female person afflicted with Androgen Insensitivity Syndrome was in fact a genetic male (AIS Support, 2003, p.7-8). In 1953, J.M. Morris, an American gynecologist, published the first medical report of AIS. His patient, a woman who had failed to menstruate, had adequate breasts and the external genitals of any other woman, but had limited pubic hair and swellings in her groin. Eventually the doctor found out that the swellings were testes and the patient lacked a uterus and ovaries. Further testing confirmed that the patient was in fact a genetic XY male (Warne, 1997, p.6). By 1953, people were using the name Testicular Feminization (among others) and ten years later an incomplete form of the condition (later Partial Androgen Insensitivity Syndrome) was described for the first time (AIS Support, 2003, p.7-8). Finally, in 1993, a well known biologist and feminist named Anne Fausto-Sterling caused many problems when she proposed a plan for five gender categories, saying male and female were simply not enough (Lehrman, 1999, p.5).
A diagnosis for AIS is usually found at one of the following stages of life: as a newborn baby, a child, an adolescent or adult. As a newborn baby the diagnosis is made shortly after delivery when the baby just doesn’t look exactly male or female. When a child is diagnosed it is almost always because they were brought to the doctor with bilateral inguinal hernias or unusual genitalia (Contact a Family, 2001, p. 1). When an adolescent is brought to the doctor, the reason is usually always due to primary amenorrhea, or a failure to menstruate before age 18. Finally, an adult might get the AIS diagnosis after many years of being unsure of their medical condition because they were either lied to or ill-informed. To test for AIS, doctors can take a simple buccal smear (sample from the mouth) and test it for the presence of the XY pattern. They can also do blood tests to check for the XY pattern. Other tests include, urine tests, ultrasounds, MRI, exploratory surgery, biopsy, gonadal histology, DNA studies, familial analysis and more (AIS Support, 2003, p.3). Another thing the doctors do is inject hCG, a hormone named human chorionic gonadotrophin, which will stimulate the testes, proving once and for all that testes, as opposed to ovaries, are in fact present in the patient’s body (Warne, 1997, p. 15).
Currently, there are three ways of determining if you are either a carrier of the disorder or carrying a baby who has AIS. Back in the 1960’s and 1970’s doctors took biopsies of the skin to evaluate its androgen binding capacity. A carrier’s test would show only a 50% androgen binding. Only used for a short time, this test sometimes missed carriers since the mutation is not always in the same region of the gene. In the 1990’s doctors moved towards Deoxyribonucleic Acid (or DNA) testing using blood or a sample from the mouth cavity. The third type of test, called base-pair repeat region testing of the first axon of the gene, is new but not as complicated as DNA testing as it does not require sequencing (AIS Support, 2003, p.5). Through a procedure known as chorionic villus sampling, AIS has been diagnosed at as early as nine weeks of gestation by taking a sample of tissue from the placenta near the fetus. By the sixteenth gestation week, both an ultrasound and amniocentesis (analyzing a sample of the amniotic fluid) can detect AIS. However, there is no reason to go through these tests unless there is a family history of the disorder as it is seemingly rare otherwise (Genetic, nd, p.4).
To help patients with AIS better cope with their unique physical appearance, there are many treatment approaches that vary based on the parents’ decision to raise the baby as male or female. To better function as a male, patients will usually have masculinizing genital surgery called urethroplasty of the hypospadic penis, an operation for the repair of an injury or a defect in the walls of the urethra that will allow the males to stand up to urinate. If they develop breasts during puberty, they can have them removed surgically (a procedure called a mastectomy). However hormone replacement androgen cannot be given to develop male secondary sex characteristics such as beard growth or deepening of the voice.
Babies raised as females have far more options. Their fused labia can be surgically separated to make the external sex organs look more like the vaginal opening and the oversized clitoris can be either removed or made to look less prominent (AIS Support, 2003, p.3). Gonadectomies (a surgical means of removing the testis) should be performed at some point to reduce the risk of testicular cancer (the appropriate time for this particular surgery is an issue of debate and will be discussed later on). Following the surgery, estrogen replacement therapy (or ERT for short) is started to induce puberty and avoid menopause (Marion, 2000, p2). ERT will prevent pubertal virilization, the development of male secondary sexual characteristics (Wrong Diagnosis, 2003, p.16). In some cases, minor surgery is done to divide the labia to make the vaginal opening accessible for pressure dilation (a non-surgical way to lengthen the vagina). When performed correctly this procedure positively affects erotic sensitivity (AIS Support, 2003, p.5). Not all AIS women choose the surgery and each patient should make their own determination (Genetic, nd, p.2). These are just some of the many options parents of AIS children have that help them deal with the physical effects of AIS.
Often the kind of medical care given to the children with AIS has a huge impact on their future well-being. For this reason, there are some issues of debate associated with this condition; the first is the timing of the gonadectomy for babies raised as female. Gonadectomies can be performed on infants but many psychologists advise parents to let the girl choose for herself when she is older, because of the chance of getting testicular cancer prior to puberty is extremely rare and the surgery cannot be reversed. Also because the surgery is cosmetic rather than medically necessary, most in the US disagree with its use on babies and toddlers and usually reserve it for adolescents. Waiting allows the girls to develop breasts and a female body shape during puberty without having to go through replacement hormone treatment (Genetic, nd, p.2).
However some doctors still believe that the surgery should be done shortly after birth and before 15 months of age. This surgery can help insure that the parents feel comfortable with their child’s appearance and so they don’t subconsciously treat them in more masculine ways. These same doctors also believe that waiting till the child reached puberty is too traumatic for them because then they are old enough to be aware of and remember what is happening to them. They feel the girl will suffer less distress if she doesn’t have to make the decision for herself. As recent as 1998, some surgeons, who were certain that life without the appropriate genitals would be impossible, published an article in Pediatric Nursing suggesting that doctors should consider it child abuse if the parents refused cosmetic surgery for their intersexed children (Lehrman, 1999, p2-3).
One thing is clear, the medical literature and opinions of specialists are increasingly divided (Lehrman, 1999, p2-3). All doctors agree that the gonadectomies need to be done prior to age 20 because after puberty the risk of testicular cancer is very high (Dreger, 1998, p8).
The second issue of debate for girls is whether or not to have a vaginoplasty. In many cases, the patient requires a lengthening surgery called a vaginoplasty (or surgery to make a vagina) in order to make intercourse possible. Not all AIS women choose the surgery and most experts feel that it is very important to let each patient make their own decision because the surgery will ultimately affect their response to sexual stimulation. Vaginoplasty surgery is problematic and has many failures. If problems arise during or after surgery, nerves could be cut or damaged, which will negatively affect the outcome and leave the patient worse off (such as nerve damage which would leave the patient with no feelings in that part of their body). The ISNA, or Intersex Society of North America strongly believes that genital surgery preformed on infants is both harmful and unethical. They feel that no one else has the right to remove or reconstruct another person’s genitals for purely cosmetic reasons without that person’s consent (Genetic, nd, p2-3). They feel that an intersex child should be raised with a regular gender identity, using sex stereotypical clothing, names, toys and hairstyles. They suggest parents should never assign gender by altering the genitals. Those parents and doctors should refrain from surgery at birth and be open to a change in sex identity later (Lehrman, 1999, p.6). They advise surgery only to fix a problem that causes pain or illness.
The ISNA is made of up many intersex individuals who feel their own cases were not handled properly. In fact, in the past, a medical team would assign the babies sex and then make them look that way externally. Informed consent of the parents, who were told little about their child, was rarely gotten before surgery began. Reasons for this include, doctors wanted to shield the parents from the fact that the baby’s gender was in question and many psychologists, including John Money, maintained that gender was plastic and could be imprinted until age 2 as long as the parents believed the gender was correct, which would require the baby to look male or female, not a mixture of both (Nussbaum, 2000, p.2).
As you can probably imagine by now, there are many psychological effects of this disorder. Even telling a girl (or her parents) that she is actually a genetic male can have long-term and far-reaching psychological effects (Marion, 2000, p.3). In fact, up until 1956, the name Testicular Feminization alone was very traumatic and stigmatizing. So in 1957 the name was changed from Testicular Feminization to Androgen Insensitivity Syndrome after the underlying androgen receptor defect was discovered and geneticists realized it was an insensitivity that caused the condition (AIS Support, 2003, p.8). AIS is preferred and still used today because it is not only the most accurate but also far less stigmatizing than Testicular Feminization. In the past, parents found it difficult to explain AIS to their afflicted children because it is a very confusing topic and not even the doctors understood it completely. Parents were anxious to maintain confidentiality and worried about how others would respond to their children. So, for the most part, girls with this condition had to deal with inaccurate medical information and lack of proper counseling. Garry Warne, a professor of endocrinology, explained that most girls experienced intense feelings of fear and embarrassment. They felt different from their friends, family and other women in society. They also had a perception of compromised womanhood or devaluation. For many, they found it best not to talk about it ever. Keeping their secret often led to a lower self esteem regarding themselves and their sexuality (Warne, 1997, p.3).
To help alleviate some of the psychological effects of this disorder, it is best to be honest with children all along, not just when they are older. Just knowing the name of the disease is not enough, the girls need to know that they are not alone, that there are others out there going through the same things that they are. The truth is easier to accept and should be told to them at all times as half-truths, lies and unanswered questions will only make matters worse (Warne, 1997, p.10). Self-discovery of the disorder in an environment devoid of support from family, friends, professionals and others afflicted is the worst way to find out about AIS. Girls with AIS should be given access to age appropriate information and adequate opportunities to discuss feelings that are bound to arise when this information is being presented and absorbed (Warne, 1997, p.20).
AIS raises some uncomfortable issues about gender identity for many people and more recently, studies have been done centered on genes and gender issues. Some of the results indicate that biological factors alone do not make us male or female. Many believe that when a child is raised female; she will be feminine, despite her XY status (Doyle, 1998, p.30). The simple presence of a Y chromosome is not enough to make someone a man (Lehrman, 1999, p.2). However, in a study called “Androgen and the Development of Human Sex-Typical Behavior: Rough-and-Tumble Play and Sex of Preferred Playmates in Children with Congenital Adrenal Hyperplasia” (CAH) the authors looked at the relationship between prenatal androgen and behavior. In this study they used children with CAH and their relatives. CAH is almost opposite to AIS because it is a condition where genetic XX female fetuses receive too much male hormones prenatally. This study is very important even though it is done with CAH girls rather than AIS girls because it suggests any prenatal hormone imbalance disorder, whether CAH or AIS, affects children on several different levels (Kaufman, 1994, p.1042-50).
Prior studies with CAH girls and their parents have suggested behavior masculinization in girls with CAH. Researchers have found CAH girls are more like tomboys, like boys’ toys and boys’ clothes, prefer boys as playmates, and show high levels of rough, active, and outdoor play. The reports of behavioral changes in girls with CAH suggest that hormones influence behavioral development in human beings in a manner similar to that documented in experimental animals. In the study by Hines and Kaufman, two factors were looked at, sex typical behavior and playmate preference. The CAH kids were videotaped with their playmate in a room filled with toys so that researchers could analyze several different variables. Significant differences between CAH and control girls on any of the variables were not observed. This is surprising in that they contrast with results obtained about the toy choices of CAH and control girls in a companion study. To determine the sex of the preferred playmates, information was obtained through interviews with CAH and control girls. In regard to CAH effects, girls with CAH indicated that 44.1% of their most frequent playmates were boys, a response that differed significantly from control girls of 11.2%. This data and those of other researchers suggest that the prenatal hormone environment contributes to the development of some human behaviors that show sex differences and that hormones may not influence all behavior within this category in the same manner or to the same degree. These results show that the relationship between prenatal hormone environment and sex-typical behavior is not uniform. One possible cause is that although hormones influence some aspects of sex-typical play behavior during development, other aspects may be more strongly influenced by other forces, such as social or cultural factors (Kaufman, 1994, p.1042-50).
In a study done by Wisniewski and her associates, AIS has been linked to other medical conditions such as obesity and osteoporosis (2000, p. 2666). In the same study, links to homosexuality were not found, as 13 out of 14 female raised participants were heterosexual (and even the one homosexual reported feelings of attraction to males in teenage years). All 14 participants reported being satisfied with the decision of their parents to raise them as females. All but one of the girls underwent a gonadectomy when they were old enough to decide for themselves to have one, while the other one had the surgery at age two. Nearly half later had a vaginoplasty, with one person having two (at ages 17 and 35). Nearly half were married and about the same number had become mothers through adoption (Wisniewski, 2000, p. 2667). In another study, women with this condition reported being satisfied with their overall body image. They went through a normal spontaneous feminizing puberty only they never menstruated and had high testosterone and low estrogen levels (Morain, 2002, p.2). The participants in this study were given long term counseling, proper medical facts and support for most of their lives.
However, contrasting results can also be found. In another study done around 2000, of girls age 4-26, results were very different. Most of the girls suffered from depression, anxiety, sexual dysfunction, oppositional defiant disorder, gender identity disorder, deviant sexual role and more. One had even seriously contemplated suicide. They felt degraded and ashamed of their condition. When told of the AIS, they reacted with shock, grief and anger. The main reason for the contrasting results of the studies is that the second group of girls were not as well informed about their condition and they had not been given counseling when they were growing up (Alderson, 2004, p.2). The results of all of these studies help prove that when handled properly, AIS patients can be develop a strong sense of who they are and lead lives similar to non-AIS individuals.
Genetic disorders, especially AIS, can be very complicated. In order to better understand the psychological effects of AIS and the effects it has on gender identity, it is important to first understand the many complex issues surrounding this condition, such as the physical differences, issues of debate or treatment. It is also important for doctors, parents and children to be well informed so that the child will grow up to lead as close to a normal life as possible.
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