Androgen Insensitivity Syndrome - Symptoms, causes and treatment

Androgen insensitivity syndrome or androgen insensitivity syndrome (AIS) is a genetic disorder that affects the development of the sex and reproductive organs of babies. This syndrome causes a baby boy to be born with multiple sexes or a girl.

Some complaints or symptoms that can be seen when a baby has androgen insensitivity are babies who have a vagina but do not have a uterus and ovaries or babies who have a penis that is not fully developed and have cryptorchidism.

Androgen insensitivity syndrome is a rare condition. This disease is estimated to occur in 13 babies out of every 100,000 births. Patients with androgen insensitivity syndrome can live healthy and normal lives, but cannot have children because of abnormalities in their sexual organs.

Causes of Androgen Insensitivity Syndrome

Androgen insensitivity syndrome is caused by a genetic abnormality on the X chromosome. This disorder causes the body to be unable to respond to the hormone testosterone, the hormone that regulates male characteristics, such as penis growth.

Normally, everyone has two types of sex chromosomes that are inherited from their parents, namely X and Y chromosomes. Girls have XX chromosomes, while boys have XY chromosomes.

In androgen insensitivity syndrome, baby boys are born with an XY chromosome, but genetic disorders inherited from the mother will interfere with the child's body's response to the hormone testosterone.

The above conditions cause the development of the child's sexual organs to be abnormal. As a result, the child's sex organs can grow as a combination of male and female sex organs. However, his internal organs remain as male internal organs.

The X chromosome genetic abnormality in androgen insensitivity syndrome is inherited from the mother. Because the mother has 2 X chromosomes, the disorder has no effect on the development of the mother's sexual organs, but she can pass the defective X gene to her sons.

Androgen Insensitivity Syndrome Symptoms

The symptoms of androgen insensitivity syndrome depend on the type the patient has. Here's the explanation:

Partial androgen insensitivity syndrome (partial androgen insensitivity syndrome/PAIS)

In partial androgen insensitivity syndrome, the child's body's lack of response to the hormone testosterone will disrupt the development of sexual organs, so that the baby's genital organs will look like a combination of the sex of a baby girl and a baby boy.

Signs and symptoms of partial androgen insensitivity syndrome (PAIS) include:

  • Having a small penis with a urine hole located at the bottom of the penis (hypospadias)
  • Have a vagina with a large clitoris but no uterus
  • Cryptorchidism, where the testes do not descend into the scrotum at birth
  • Breast growth (gynecomastia) in male patients

It should be noted that cryptorchidism in PAIS patients is usually not recognized, unless the patient also has an inguinal hernia.

Complete androgen insensitivity syndrome (complete androgen insensitivity syndrome/REIN)

In complete androgen insensitivity syndrome, the body doesn't respond to the hormone testosterone, so baby boys will look like baby girls completely. This condition occurs in 1 in 20 thousand babies.

Symptoms and signs that appear in complete androgen insensitivity syndrome (CAIS) are:

  • Has a vagina, but no uterus and ovaries
  • Has a short vaginal depth, making it difficult to have sex
  • Experiencing normal breast growth when entering puberty, but having a taller height than women her age
  • No menstruation and growth of armpit or pubic hair at puberty

When to go to the doctor

Check with the doctor if your child shows signs of androgen insensitivity syndrome mentioned above. If you have a family history of androgen insensitivity syndrome and are planning a pregnancy, talk to your doctor about the risk of passing the disease to your child.

Androgen Insensitivity Syndrome Diagnosis

Partial androgen insensitivity syndrome can be detected early because the child's sex looks like a mix of male and female sex. This is different from the complete androgen insensitivity syndrome which is only realized when the child enters puberty, because the child does not get menstruation.

If the doctor suspects that your child has AIS, the doctor will perform several follow-up tests, such as:

  • Blood tests, to check testosterone levels, luteinizing hormone (LH), and follicle-stimulating hormone (FSH)
  • Genetic tests, to determine sex chromosomes and look for genetic abnormalities on the X chromosome
  • Pelvic ultrasound, to detect the presence of the uterus and ovaries
  • Biopsy, to detect the presence or absence of abnormal tissue growth in cryptorchid patients

Androgen Insensitivity Syndrome Treatment

To treat androgen insensitivity syndrome, doctors will perform surgery. However, before the operation is performed, the patient's parents will be asked to choose the gender of their child.

In the majority of cases, parents of CAIS patients choose to raise their children as girls, because their sex tends to be vaginal. On the other hand, parents of PAIS patients will find it difficult to determine the sex of their children because the shape of their genitals has both male and female characteristics.

After the sex of the child is determined, the doctor will perform an operation to correct the patient's sex shape according to the selected gender. The operation can be performed before or after the patient enters puberty. Some of the operations that can be performed are:

  • Surgery to repair a hernia, which is often experienced by patients with androgen insensitivity syndrome
  • Surgery to remove the testes or move the testicles into the scrotum in patients with cryptorchidism
  • Surgery to move the penis opening to the tip of the penis in patients suffering from hypospadias
  • Surgery to correct a short vaginal shape and reduce the size of the clitoris
  • Breast reduction surgery for PAIS patients who will be raised as male and experience breast growth
  • Androgen hormone therapy, such as mesterolone to stimulate the growth of male characteristics, such as the growth of the mustache and beard, the growth of the penis, and to make the voice heavier
  • Estrogen hormone therapy to help shape the patient's body according to female characteristics, and to prevent menopausal symptoms and osteoporosis

Keep in mind, estrogen therapy will not trigger menstruation in patients who are raised as women, because they do not have a uterus.

Complications of Androgen Insensitivity Syndrome

A number of complications that can arise from androgen insensitivity syndrome are:

  • Psychological problems, such as shyness or anger, and avoiding social interactions
  • Abnormal penile development, breast growth, and infertility in PAIS patients raised as male
  • Testicular cancer, due to the testes not being removed after a CAIS patient enters puberty
  • Cannot have offspring in patients who are raised as women, because they do not have a uterus and ovaries

Androgen Insensitivity Syndrome Prevention

As described above, androgen insensitivity syndrome is caused by genetic disorders due to heredity. Therefore, this disease cannot be prevented.

However, you can do a consultation and prenatal check with a doctor to find out how big the risk of your child suffering from this disease, especially if there is a history of androgen insensitivity syndrome in the family.