Androgen Insensitivity Syndrome, Partial: Causes, Symptoms, Treatment, Diagnosis

What is Androgen Insensitivity Syndrome?

Androgen Insensitivity Syndrome is a syndrome that affects the body of the individuals by making them unable to react to male sex chromosomes known as androgens. Androgen Insensitivity Syndrome affects the sexual development before the birth of the child and during puberty. Androgen insensitivity syndrome, partial is a partial inability of the cells to react or respond to the androgens. Androgen insensitivity syndrome is usually faced by men as their body fails to respond towards androgen and they tend to develop external sexual characteristics of both male as well as female. Androgen Insensitivity Syndrome is also known as AIS, Androgen receptor deficiency, Androgen Resistance Syndrome, AR Deficiency, DHTR Deficiency or dihydrotestosterone receptor deficiency. Affected children internally have male sex organs that are located abnormally in the abdomen. People who face complete androgen sensitivity syndrome have external sexual characteristics of female but do not possess a uterus and therefore they do not menstruate and remain infertile. They may be raised as male or female and may have a male or a female identity.

Causes of Androgen Insensitivity Syndrome, Partial

Androgen Insensitivity Syndrome is caused due to the mutations of the AR gene. This gene is responsible for giving instructions for making a protein called as Androgen receptor. These receptors guide the cells to respond to androgen leading to the development of male sexual characteristics. Androgen and androgen receptors also perform important functions of regulating hair growth and sex drive while mutations in the AR gene affect the proper working of these genes restricting the growth. There is a 25% chance of a child facing this disorder if the mother is the carrier.

Symptoms of Androgen Insensitivity Syndrome, Partial

The symptoms in Androgen Insensitivity Syndrome vary greatly. The least severe cases of Androgen Insensitivity Syndrome reported infertility of the affected person. This is caused by either hardening of the tubules in testis or due to very low or no sperm in the semen. The symptoms recorded in case of severe partial androgen insensitivity syndrome are impaired production of the male hormones due to dysfunction of gonads, abnormal penis in which urethra opens on the underside, excessive development of male breasts, etc. In this case that is a decrease in the functioning of the testes and they may fail to descend normally. This can lead to impotence in future life.

Epidemiology of Androgen Insensitivity Syndrome, Partial

Partial androgen insensitivity syndrome is considered to be a very rare genetic syndrome which usually affects the male population. However, females are considered to be the carrier of this disorder and there can be more than one person in the same family affected by it. Androgen insensitivity syndrome affects 2 to 5 out of 100,000 people who are genetically male. Partial and mild androgen insensitivity syndrome is comparatively less common [1].

Diagnosis of Androgen Insensitivity Syndrome, Partial

In the case of partial androgen insensitivity syndrome, the disorder is diagnosed at the time of birth as the presence of both male and female sexual traits are found. In case of complete androgen insensitivity syndrome, the disorder is diagnosed during infancy, when the testicle is felt as a mass in the abdomen. One can also have various blood tests, genetic testing, and pelvic ultrasound done in order to confirm the disorder.

Treatment of Androgen Insensitivity Syndrome, Partial

Androgen insensitivity syndrome, partial is treated with estrogen replacement therapy once the child hits puberty. In the case of partial androgen insensitivity syndrome, corrective surgery can be done to match the gender identity of the affected person. If the gender identity turns out to be male, then hormone therapy will include testosterone. One can also use drugs at an early age which may replace testosterone and can help to restore fertility in males. It is advisable to consult psychiatrists and undergo psychological counseling in order to help the young males with the problem and issues of their gender identification.

Conclusion

Partial Androgen Insensitivity Syndrome is a disorder usually affecting the males. It makes it difficult for the male body to react to sex chromosomes known as the androgen. Androgen insensitivity syndrome, partial is caused due to the mutations of the AR gene. This gene is responsible for the production of androgen receptors which gives instructions to the cells towards the development of androgen. This is a rare genetic disorder which is usually seen in men. Partial androgen insensitivity syndrome can lead to no sperm in the semen and can cause impotence. It can be cured by taking proper medications or by surgery and by getting counseling from psychologists who can guide accurately about the issues of gender identification.

References:  

  1. Mohan, S., Kapoor, G. and Raman, D. (2011). Partial androgen insensitivity syndrome: a diagnostic and therapeutic dilemma. Medical Journal Armed Forces India, 67(4), pp.382-384.

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