Androgen insensitivity syndrome

AIS or androgen insensitivity syndrome is case wherein the male individual despite of male genetic makeup  is resistant towards certain male hormones like the androgens that means the body do not act to the androgens that are synthesized as a result they have female characters or traits.it is a condition which affects the sexual development of the individual at the time of birth and before the birth of the individual .Also in case with complete androgen insensitivity the body is completely resistant to the androgens in the body as a result the individuals are female by gender and externally but have male internal organs like the testes which are abnormally located in the pelvis or the abdomen. The affected individual thought his external female characters but doesn’t have  uterus and other female reproductive organs . Further it is also found that the affected individual has sparse pubic hair .People with mild androgen insensitivity are those that respond to androgens in the body to a certain extent  they have genitalia that can be of a female or male or characteristics of both male and female .

Other names of this condition 

The androgen insensitivity syndrome is called by the following names listed below -:

• Androgen receptor deficiency or AR deficiency
• Androgen resistance syndrome
• DHTR deficiency or dihydrotestosterone receptor deficiency
• Testicular feminisation

Causes 

AIS or the androgen insensitivity syndrome is caused by genetic defects on the x chromosome. These defects make the body resistant or  unable to respond to the hormones that produce a male appearance like the androgens.

The syndrome has two divisions which are mentioned as follows-:

• Complete AIS-in this type the individual looks like a girl at birth and the penis and other male body parts not developed .in terms of frequency of complete androgen insensitivity the syndrome occurs in1 in 20,000 live births
• Partial AIS- in this type of syndrome the number of male traits present in the affected individual is variable. This type is further accompanied b certain other disorders like the failure of testes to move down into the scrotum post birth, hypospadias , reifenstein syndrome  or the infertile mal syndrome is also part of partial ais 

The main reason for the ais or the androgen insensitivity syndrome is the mutation of the AR gene that is the gene that is responsible for the production of the protein – androgen receptor , these receptors allow the cells to respond to the hormone’s androgens. These androgens as mentioned are required for male sexual development like the development of hair and the sexual drive. 

In this syndrome the mutation in the receptors impair the working of the receptors which ultimately leads to less responsive androgen receptors and further prevents cells from using the androgen hormone at all.

Inheritance of androgen insensitivity syndrome

1. AIS I an X linked recessive disorder as the mutated gene that causes the disorder is present on the X chromosome. As males have only one X chromosome that is sufficient to cause the disorder.
2. Males are prone to  X-linked recessive disorders than females
3. Most of the cases, around  two-thirds of all cases of androgen insensitivity syndrome are inherited from mothers . These mothers have an altered AR gene, one  of the X chromosomes that is passed to the child at the time of birth.
4. While some cases occur due to mutation in the mother’s egg cell at the time of fetal development or before the child is conceived . 

Diagnosis of androgen insensitivity syndrome

In terms of discovery of the syndrome it has been found that complete AIS is not able to be discovered in childhood while partial AIS can be since the child has both male and female physical traits .

Some of test that are used for diagnosis are mentioned as follows-:

1. Blood test – this is done to check the levels of testosterone , LH the luteinising hormone and FSH follicle stimulating hormone 
2. Karyotype – it is genetic testing that is done to determine the genetic makeup of the person.
3. Pelvic Ultrasound
4. Some other blood tests are also done to confirm and differentiate between androgen insensitivity syndrome and the androgen deficiency

Treatment

• In this disease the testes are wrongly positioned in the abdomen and can be cancerous in later stages so it is removed post puberty. 
• Estrogen replacement can be done at the time of  puberty.

Complications

Some of the Complications are mentioned below -:

• Infertility
• Psychological and social issues
• Testicular cancer

Conclusion

AIS or androgen insensitivity syndrome is a x linked recessive disorder that is seen in males with a genetic makeup of males that is the presence of x and y chromosomes but with female traits . The syndrome has two subcategories as partial AIS and complete AIS depending upon how the cells respond to the androgen hormone which play a crucial and pertinent role in male sexual development .The disease can be diagnosed with the help of various test like blood tests to find out the levels of LH , FSH and testosterone and  karyotype to find the genetic makeup .