What Causes Androgen Insensitivity Syndrome & How Is It Treated?

Androgen Insensitivity Syndrome

Androgen Insensitivity Syndrome is a pathological condition characterized by the inability of the body to respond normally to androgen, which is primarily a male sex hormone, during pregnancy. The primary cause of this abnormality is believed to be mutations of gene that functions by producing proteins within the cells that get androgen and provides the instructions to the cell on the use of this hormone. Androgen Insensitivity can be partial or complete. However, in both cases there is abnormality in the development of the genitals of the fetus as a result of the gene mutation [1].

Anatomically speaking, during the first trimester the external genitalia of the embryos whether it is a male or a female remains the same. It is the presence or absence of testosterone within the embryo that determines whether it will go on to become a male or a female. In Androgen Insensitivity Syndrome, there is neither the development of female genitalia or male genitalia. The baby will be born with characteristic features of both males as well as females [1].

It is a genetic condition and is inherited as an autosomal recessive trait that is X-linked. Androgen Insensitivity Syndrome is graded from 1-7 of which 1 is the mild form and 7 is the most severe form of this disorder. It is extremely vital to have a gender identity of people with Androgen Insensitivity Syndrome. This is because they may have internal characteristics of male but external features of female. This at times may be socially embarrassing for the child and in such situations it is important to take the child to psychological counseling for help [2].

It is common for people with Androgen Insensitivity Syndrome to have undescended testicle. However, this can be removed surgically. Hormone therapy is given for patients with Androgen Insensitivity Syndrome based on their gender preference of whether they want the characteristics of a female or a male. This article gives an overview of some of the potential causes of Androgen Insensitivity Syndrome and different treatment strategies to manage the condition [2].

What Causes Androgen Insensitivity Syndrome & How Is It Treated?

As stated, for the first trimester of the pregnancy, the embryos of both male and female have identical genitals. It is well into the second trimester that these embryos go on to develop a male or a female reproductive system depending on the hormones. An embryo with XY chromosomes will go on to develop male characteristics when the testes release androgen. In cases of Androgen Insensitivity Syndrome, the body or the embryo will not react or will be insensitive to this hormone due to gene mutations causing a decrease of androgen receptors [2].

This then causes the testes to remain in the body rather than descend into the scrotum to develop into a male reproductive system. When the fetus will be viewed from outside, the area will resemble that of a female genitalia. Studies suggest that in more than 70% of cases of Androgen Insensitivity Syndrome, the defective gene is inherited from the mother [2].

Androgen Insensitivity Syndrome is sometimes misconstrued as gender dysphoria. However, they both are separate entities. Gender dysphoria occurs when there is normal development of the external genitalia and the reproductive system as a whole but the individual is not happy with the gender that he or she is born with. This is normally seen in transgender people [2].

Coming to the variants of Androgen Insensitivity Syndrome, it is categorized into three parts. These include:

Complete Androgen Insensitivity Syndrome: Complete Androgen Insensitivity Syndrome occurs when there is complete insensitivity to androgens. Individuals with this form of condition will have external genitalia of a female but will not have uterus and will not menstruate. Thus they will not be able to conceive children in the future.

These individuals are raised as a female but may have male internal organs like undescended testes [3].

Partial Androgen Insensitivity Syndrome: In this variant of Androgen Insensitivity Syndrome, there is partial response of the body to androgen. Depending on the how sensitive the body is, the person may go to develop as male or a female. In some cases, they may have features of both sexes [2].

Mild Androgen Insensitivity Syndrome: This form of Androgen Insensitivity affects males after they attain puberty. These individuals may develop breast tissues as they grow and at times they do not produce viable sperms [2].

Coming to the treatment of Androgen Insensitivity Syndrome, in majority of the cases children with Androgen Insensitivity Syndrome are raised as girls since externally they have characteristic features of a female. However, in some cases the physicians let the parents decide as to how they want to raise their child as. This can at times be a tough task since the child may have both male as well as female genital features. Once the child attains puberty, hormone therapy is started depending on the gender specificity [2].

Hormone therapy also at times delays puberty until the time the child is old enough to decide the gender he or she wants to carry on with. It is necessary for a child with Androgen Insensitivity Syndrome to undergo counseling to decide on what gender to choose when the time comes [2].

Majority of the children with partial Androgen Insensitivity Syndrome tend to be happy with whatever gender they are born with but in some rare cases they may wish to change as they do not feel their gender displays their true character [2].

Surgery: This is one of the most important aspects of treatment of Androgen Insensitivity Syndrome. Everyone with Androgen Insensitivity Syndrome will need reconstructive surgery at some point or the other. Surgery to reconstruct the genitals used to be done when the baby was young and the parents decided the gender.

However, now this surgery is postponed until the time the child is able to take a decision on his or her own [2].

In case a child wants to carry on as a female then the undescended testicles will be removed before since there is an increased risk of cancer. This procedure is known as orchidectomy. This surgery is normally done after puberty. This is because the testes have the ability to convert androgen to estrogen in these cases. Estrogen aids in development of female reproductive features. Allowing time till puberty allows the child to develop more physical features of a female without needing any hormone therapy [2].

In some cases, females with Androgen Insensitivity Syndrome may opt to lengthen the vagina. This eases the female to have sexual intercourse without any pain or discomfort. This procedure is again performed after puberty to give the female time to come to a decision. Females with complete Androgen Insensitivity who have the testes removed will need hormone therapy to develop female characteristics once attaining puberty [2].

Since individuals with Androgen Insensitivity Syndrome have both X and Y chromosomes, they will need estrogen supplements to prevent symptoms of menopause. They will also need medication to prevent them from getting abnormally tall due to the Y chromosome. If the testes are removed when the baby is young then hormone therapy will have to begin by the time the child is 10 years of age to initiate the process of puberty [2].

In cases of boys with Androgen Insensitivity, they will need androgen supplementation to encourage growth of male features like beard and a deep voice. In all instances of Androgen Insensitivity Syndrome, it is essential for psychological counseling for both the child as well as the parents to cope with the stress of such a genetic disorder like Androgen Insensitivity Syndrome since it can be emotionally draining for both [2].


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