What is Androgen Insensitivity Syndrome?

A person who has this condition may have a male’s genetic makeup but his physical traits are that of a female.

androgen insensitivity syndrome

Considered as a rare condition, androgen insensitivity syndrome primarily changes how a child’s reproductive organs and genitals are developed. In cases like this, a genetically male individual is repellent of androgen, which is the male sex hormone. In effect, the individual may have a male’s genetic makeup but all or some of his physical traits are that of a female.

Through psychological support, we can help patients with androgen insensitivity syndrome cope with the problems better. Treatments are also possible in some cases to change their genitals’ appearance. Most individuals suffering from this condition are not able to bear children. However, they can still live happy, healthy and perfectly normal lives.

 

Causes of Androgen Insensitivity Syndrome

A genetic fault is the main culprit behind androgen insensitivity syndrome. This causes the body not to respond properly to testosterone. A mother usually passes the flawed gene onto her child. The testicles produce testosterone to trigger the normal changes experienced by boys. This includes the testicles’ move to the scrotum and penis development.

 

2 Main Types of Androgen Insensitivity Syndrome

The first type is the partial androgen insensitivity syndrome. In this case, the boy’s genitals are usually between female and male because the testosterone has somehow impacted his sexual development. At birth, you can notice if right away because of the seemingly different appearance of the genitals.

The second type is called complete androgen insensitivity syndrome. For this one, the boy’s genitals are completely female because the testosterone did not have any impact on his sexual development. This case is harder to spot because it just looks like a normal girl’s genitals. It can be diagnosed during puberty when the underarm and pubic hair do not develop and the menstrual periods do not begin.

 

Symptoms of Androgen Insensitivity Syndrome

Partial Androgen Insensitivity Syndrome

Partial androgen insensitivity syndrome may vary in children but in most cases, the genitals of the affected babies are between female and male. Symptoms include either an enlarged clitoris or a very small penis. Sometimes, the testicles are partially undescended. Another symptom is hypospadias, wherein the urine passes through the underside instead of the end.

During puberty, kids with partial androgen insensitivity syndrome will have small breasts and poorly developed penises. They will be infertile and are usually raised as boys. On the contrary, some of these kids will be raised as girls and would not be able to get pregnant because they do not have an ovary or womb.

Complete Androgen Insensitivity Syndrome

Not easily recognized at birth, babies with complete androgen insensitivity syndrome are raised as girls because they possess female genitals such as the labia and vagina. You will not notice the undescended testicles unless the patients experience swelling in the labia or hernia.

Upon reaching the age of 11 or 12, these girls will not have menstrual periods. They will also have little to no underarm and pubic hair. They will experience normal growth spurts, develop breasts and become slightly taller than most girls.

Having sex may be hard for girls with complete androgen insensitivity syndrome because of their shorter than normal vaginas. Pregnancy is also not possible because they lack ovaries or womb.

 

Life with Androgen Insensitivity Syndrome

A team of specialists will deliver continuing support and care to kids with androgen insensitivity syndrome. While the kids are still very young, the team members will assist the parents in determining whether to raise the kid as a boy or a girl.

Kids with partial androgen insensitivity syndrome can be raised as either boys or girls, while those with complete androgen insensitivity syndrome can be brought up as girls. With assistance from specialists, parents can decide what is best for their children.
After deciding, the parents can know more about the available treatments and make the look of the children’s bodies more consistent with the selected gender. Once these are decided, they can assist the children to naturally develop.

During puberty, male or female development can be encouraged through hormone treatment. Surgery may be involved to change the genitals’ function or appearance. To better cope and understand the effects of androgen insensitivity syndrome, psychological support is provided to the patients and their parents.

Psychological support may not be necessary for kids while they are young, but they will need it as they grow old.

 

Gender Dysphoria VS Gender Identity

Gender identity is the feeling of most kids with androgen insensitivity syndrome that they are the gender with which they have been raised by their parents. On the other hand, gender dysphoria is when the adults and older children with this condition feel that the gender with which they have been raised does not match their gender identity.

Gender dysphoria patients would like to live as part of the opposite sex and may seek treatment to match their gender identity with their physical appearance. Right now, the National Congenital Anomaly and Rare Diseases Registration Service are supporting the scientists’ quest to improve the treatment and prevention of androgen insensitivity syndrome.

 

Educating Patients and Families About Androgen Insensitivity Syndrome

The complete nature of androgen insensitivity syndrome should be explained very well in order to educate patients and their families. An age-appropriate format can be used to deliver understandable and highly accurate information to children. Issues like osteoporosis and vaginal hypoplasia should be discussed as the child grow up and mature.

It is also best to urge the patients to join in making decisions regarding their surgical and medical options.

 

Additional Information about Androgen Insensitivity Syndrome

Upon diagnosis, affected patients usually experience psychological trauma. They were reportedly treated as oddities and coerced to go through many interviews and examinations for the purpose of learning. Furthermore, the lack of sexual satisfaction and sexual confidence has been reported by patients with complete androgen insensitivity syndrome.

Psychological morbidity is the usual thing among patients with androgen insensitivity syndrome. Psychosocial issues may arise in phenotypic females who are identified as genetic males. Sensitive psychological support is very important for these females as they struggle with problems like the outside world’s gender perceptions as well as the medical system’s lack of sensitivity.

Non-removal of the testes is tied to a higher risk of testicular malignancy. Prepubertal malignancy is very rare in complete androgen sensitivity syndrome cases. In addition, there is a significantly higher risk of germ cell tumors if the undescended testes are left untreated.

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