Androgen insensitivity syndrome, commonly known as AIS, is a syndrome affecting the growth of both the genital and reproductive organs. Cases of complete Androgen insensitivity syndrome are rare. However, cases of mild androgen resistance are common and are often the cause behind male infertility.
Most medical practitioners are of the opinion that the different cases of male infertility that have not yet been explained may be due to mild androgen resistance. This disease of Androgen insensitivity syndrome dates back to the nineteenth century. At that time the term for intersex conditions was known as hermaphroditism. However, Lawson in the year 1950 hypothesized that the syndrome was caused due to testosterone resistance. J.C. Morris in the year 1953, named it as testicular feminization. However, the concept Androgen insensitivity syndrome was formulated in the year 1963. It was in the year 1980 that the physicians became aware of the partial form of this Androgen insensitivity syndrome.
Causes of Androgen Insensitivity Syndrome
Androgen insensitivity syndrome is mainly caused by a mutation of the androgen receptor gene. This gene is present in the X-chromosome. Different types of AIS may be caused by the mutation of more than 100 AR. Simple mutation of missense is the cause of mild forms of AIS. This process involves the mutation of one or more amino acid. However, complete Androgen insensitivity syndrome is caused by complicated mutation of the protein. These mutations create a severe change in the protein’s shape and structure.
Androgen Insensitivity Syndrome Symptoms
There are different symptoms of the Androgen insensitivity syndrome. People suffering from complete AIS are mainly women. The external appearance of their body is normal. But they develop internal testes and possess 46, XY karyotypes. They do not possess uterus and ovaries. Besides, the vagina is also not deep. Women suffering from partial AIS also have 46, XY karyotype and internal testes. These female do not possess full vagina, uterus and ovaries. However, in case of people suffering from partial AIS the response to the androgen hormone is not totally eliminated.
Treatment of Androgen Insensitivity Syndrome
The Androgen insensitivity syndrome does not have any cure. However, surgery and medical treatments can help a person suffering from this disease. The best help for a person suffering from this syndrome is the counselling and explanation that the medical practitioner can provide to the patient. Only an expert psychologist should counsel the patients. Women suffering from this disease may have problem like shallowness of the vagina. A long-term course of self-dilation can help in enlargement of the vagina. In certain cases the doctors also do the surgical construction of the patient’s vagina. The doctors may treat a male infant having Androgen insensitivity syndrome with injections of testosterone that will enhance the productions of this hormone within the body. These injections may help in the growth of the penis. Besides, it may also increase the frequency of erection.
Researches have showed that removal of the testes in the abdomen may result in malignant tumor. The risk of testicular cancer in case of complete Androgen insensitivity syndrome is much higher in comparison to those men whose testes have not been removed. Again, cases of testicular cancer in case of adolescents suffering from complete AIS are rare. So in most cases of Androgen insensitivity syndrome the doctor’s advice not to get the testes removed. A woman suffering from complete or partial Androgen insensitivity syndromeshould take help of a counsellor who can explain to her about the inheritance of the syndrome.