Androgen Insensitivity Syndrome, also known as AIS, is a genetic disorder that is experienced by a small portion of the population. AIS may occur to 2 to 5 people out of 100,000.
What is Androgen Insensitivity Syndrome?
Androgen Insensitivity Syndrome (AIS) is a condition in which a genetic male’s body does not accept the male hormones called androgens. Through this phenomenon, the person fails to develop male physical features and instead gets some or all traits of a female. People with AIS are still genetically male.
The X and Y Chromosomes
In genetics, they describe the two sex chromosomes as the X and Y chromosomes. From these two chromosomes, the sex of a person is determined. A pair of X chromosomes (XX) determines a female, while a pair of X and Y chromosomes (XY) is for male.
Abnormalities between these pairs of sex chromosomes lead to different gender conditions.
Androgens are group of hormones that play a huge role with regards to male traits and reproductive activity. These androgens are found in both men and women, and they are mainly composed of testosterone and androstenedione. Another term for androgens is male hormones.
These androgens are considered key hormones for the female body because of how they get converted into the female hormone called estrogen. These hormones are also believed to take part in controlling the functions of most organs like the bone, kidneys, liver, muscle, and the reproductive tract.
What Causes Androgen Insensitivity Syndrome?
A genetic female has the sex chromosomes X and X. There are instances when genetic defects affect an X chromosome and that is when the body becomes unable to respond to the male hormones that are responsible for the male appearance. Therefore, the individual is physically a woman but has the genetic model of a man.
Complete AIS and Partial AIS
Androgen Insensitivity Syndrome can be classified into two kinds: complete AIS and partial AIS.
When someone has complete AIS, the major sex organs such as the penis and other male body parts completely fail to develop. When the child is born, they are mistaken as a girl since they will look like one. The chance of someone having complete AIS is only 1 of 20,000 people.
In the case of partial AIS, there are different disorders that are possible to take effect, such as:
- One or both testes fail to go down into the scrotum
- Possibility of having hypospadias, which is a condition where the positioning of the urethra opening is on the underside of the of the penis and not at the tip
- Disease like Reifenstein syndrome may occur
- There is also a big possibility for the male to become infertile since the condition happens from chromosome abnormalities, thus it affects the sperm production and may also block the sperm flow
Symptoms of AIS
The first thing people notice about patients with AIS is their appearance.
Those with complete AIS entirely look like a female. They even develop female sex characteristics, like breasts, during puberty. Also when compared to a normal genetic male, their pubic hair and armpit hair are only minimal. People with CAIS only differ from females in terms of menstruation and fertility. They do not menstruate and are not able to conceive children.
Partial AIS may give the person both female and male physical characteristics. Some people with partial AIS develop vaginas, but it does not function like the normal ones since they do not have a cervix and uterus. Their vaginas are only developed physically. They may also have normal female breasts, and other unusual conditions like the testes being found in the abdomen or in other parts of the body.
Difficulty in Testing AIS and How to Test AIS
When a person with complete AIS is still in childhood, there is a possibility that the condition will not be detected too soon. Also, since the child will look completely female, it will be hard to determine if they have AIS. It may only be determined during their puberty, when they notice that they do not experience having menstrual period or when they cannot get pregnant.
Partial AIS, however, is easy to detect because the person will have both male and female physical attributes.
Since this condition is not easy to diagnose, especially complete AIS, there are different tests that can detect AIS:
- Blood tests that check the levels of testosterone and other sex hormones. Plus, these tests can help check the person’s sex chromosomes. With the aid of these blood tests, one can identify the genetic fault that caused the disorder.
- Ultrasound can be used to check if there is a presence of ovaries and womb. If there is none detected, it means the person has AIS. This kind of test is necessary since a child with AIS has female genitals, but no female reproductive organs.
Treatment of Androgen Insensitivity Syndrome
First of all, a person with AIS is not advised to undergo any kind of treatment prior to puberty. Any treatment or surgery may only be done if there is a discomfort caused by the testes, specifically of they can already be felt inside the abdomen. If there is no discomfort, the testes is instead removed after puberty of the child.
A person with AIS, either complete (CAIS) or partial (PAIS), may undergo a surgery called gonadectomy.
Gonadectomy is where the ovaries or testes are removed by procedure of surgery. It is commonly recommended to people with complete androgen insensitivity syndrome.
The process of gonadectomy is considered by many medical professionals because it aims to eliminate the testes that can be the main cause of cancer.
Another possible treatment is Hormone Replacement Therapy or HRT. HRT is mostly for menopausal treatment, but in the case of adults with AIS, they may also need hormone replacement.
Lastly, always remember that any person needs psychological support. This is the most important aspect of a treatment. Be sure to give the person assurance of their identity.