Androgen insensitivity syndrome



What is androgen insensitivity syndrome?

Androgen Insensitivity Syndrome (AIS) is a genetic disorder that occurs during period of the development of sex characteristics. The disease occurs because of the unresponsiveness of the body to androgen, the hormone responsible for male sexual development. A baby with AIS may be born with absent or undeveloped sex organs (penis or vagina) along with other abnormalities in reproductive organs.

Babies with complete AIS (CAIS) appear female, while babies with partial AIS (PAIS) may have both female and male features. Partial AIS is usually diagnosed at birth, based on the abnormal genitals, but other forms may not be diagnosed until puberty.

Someone with AIS may benefit from psychological support, and in some cases may have treatment to alter the appearance of their genitals.

Most people born with the condition are unable to have children, but they’ll otherwise be perfectly healthy and able to lead a normal life.

How common is androgen insensitivity syndrome?

Complete androgen insensitivity syndrome affects 2 to 5 per 100,000 people who are genetically male. Partial androgen insensitivity is thought to be at least as common as complete androgen insensitivity. Mild androgen insensitivity is much less common. Please discuss with your doctor for further information.


What are the symptoms of androgen insensitivity syndrome?

The signs and symptoms of AIS may vary basing on the degree of insensitivity to androgens. There are three general categories of AIS based on the degree of the effects of the androgen sensitivity: Mild androgen insensitivity (MAIS), partial androgen insensitivity (PAIS) and complete androgen insensitivity (CAIS).

Mild androgen insensitivity (MAIS)

A baby who was born with MAIS will look completely male at birth but the development of the genitals is not affected, but the androgen insensitivity may affect sperm formation or production or secondary male sex characteristics (deep voice, coarse body hair).

Partial androgen insensitivity (PAIS)

  • A baby born with PAIS will have abnormal genitals and may have abnormal reproductive organs at birth, though the degree of abnormality varies from person to person. Secondary sex characteristics (voice, body hair) are usually affected.
  • Internal reproductive structures
  • Epididymis, vas deferens, seminal vesicles: partially to fully developed
  • Prostate: small and impalpable (cannot be felt through rectum)
  • Testicles: may not be descended into scrotum
  • Scrotum: may be bifid, appearing more like a woman’s labia majora
  • Secondary sex characteristics
  • Enlarged breasts
  • Diminished pubic hair
  • High- pitched voice

Complete androgen insensitivity (CAIS)

  • A baby born with CAIS will appear completely female at birth. Signs and symptoms may not appear until puberty.
  • Genitals
  • Labia and clitoris: usually normal, sometimes underdeveloped
  • Vagina: shorter, ends in pouch
  • Internal reproductive structures
  • Gonads: testes (not ovaries)
  • Epididymis, vas deferens, seminal vesicles: absent
  • Fallopian tubes, cervix, uterus: absent or only remnants
  • Secondary sex characteristics
  • Body hair: little to no pubic hair, sometimes no armpit hair
  • Breasts: developed, because testosterone produced by testes is converted to estrogen, feminizing the body
  • Other physical features
  • No acne
  • Larger teeth
  • Longer limbs, larger hands and feet
  • No menses (no monthly bleeding,  no uterus or ovaries)

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.


What causes androgen insensitivity syndrome?

Some potential causes of androgen insensitivity may be caused by a genetic fault that’s usually passed on to a child by their mother.

This genetic fault means that, despite being genetically male, the body doesn’t respond to testosterone (the male sex hormone) properly and male sexual development doesn’t happen as normal.

This means the penis doesn’t form or is underdeveloped. The child’s genitals may appear female, or between male and female, but they don’t have a womb or ovaries and have fully or partially undescended testicles.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is androgen insensitivity syndrome diagnosed?

A physical examination will be conducted by doctors and then he/she will order some certain tests to determine the disease, such as:

  • Blood tests
  • Imaging

An pelvic ultrasound (uses high frequency sound waves to create images of the inside of the body) may l be used to confirm the absence of female reproductive organs.

  • Genetic testing

A karyotype (test that identifies the number and type of chromosomes) test will be used to verify the genetic sex (would be 46XY in person with AIS).

  • Gene sequencing

A definite diagnosis of AIS is made by androgen receptor gene sequencing that demonstrates the genetic defect.

  • Prenatal diagnosis

If a pregnant woman has a family history of AIS she may choose prenatal testing. Prenatal testing involves using a sample of cells to test for genetic defects.

How is androgen insensitivity syndrome treated?

Though there is no treatment that will cure AIS, there are a number of interventions that can help a person with AIS live a healthy, fulfilling life. The management of AIS may include any or all of the following:

  • Gender assignment
  • Hormone replacement therapy
  • A gonadectomy, or removal of the gonads (in the case of AIS, the gonads are the testes) is usually performed in patients with CAIS and PAIS.
  • Vaginal dilation
  • Reconstructive Surgery: Vaginoplasty is another alternative to create a functional vagina for those who wish to identify as women. A vagina may be reconstructed using skin and tissue from the external genitals, though the success of this option is variable.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage androgen insensitivity syndrome?

The following lifestyles and home remedies might help you cope with androgen insensitivity syndrome:

If your baby is diagnosed with ambiguous genitalia, you may worry about your child’s future. Mental health providers can help you deal with this difficult and unexpected challenge. Ask your child’s doctor for a referral to a therapist or counselor who has experience helping people in your situation. In addition to ongoing counseling for your family and your child, you may benefit from a support group, either in person or online.

Not knowing the gender of your newborn immediately can turn a hoped-for celebration into a stressful crisis. Until the medical evaluation is complete, try to avoid thinking of your child as either a boy or a girl.

Consider delaying a formal announcement of the birth until testing is complete and you’ve developed a plan with advice from your medical team. Give yourself some time to learn and think about the issue before answering difficult questions from family and friends.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Review Date: August 1, 2017 | Last Modified: August 3, 2017