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Children with androgen insensitivity syndrome (AIS) and their parents will be supported by a team of specialists who can offer ongoing information and care. Various treatment options are available to someone with AIS, including reconstructive surgery and hormone therapy.
How is androgen insensitivity syndrome (AIS) treated?
There are two categories of androgen insensitivity syndrome: complete and partial. In complete androgen insensitivity syndrome, the body does not respond to androgen at all. This form of the syndrome occurs in as many as 1 in 20,000 births. In partial androgen insensitivity syndrome, the body responds partially to androgen.
What are the types of androgen insensitivity?
For patients with complete androgen insensitivity syndrome, hormone therapy almost always consists of estrogen replacement. The general belief is that these women do not require progesterone because they have no uterus.
Do women with complete androgen insensitivity syndrome need progesterone?
Testing and diagnosis. Complete androgen insensitivity syndrome may be discovered in infancy when a testicle is felt as a mass in the groin or abdomen. However, in most cases, the syndrome isn’t diagnosed until adolescence or later. Partial androgen insensitivity may be diagnosed at birth because of the presence of male and female sexual traits.
How is androgen insensitivity syndrome diagnosed?
Is there a treatment for AIS?
Various options are available to someone with AIS. Some are available in childhood, but most are offered in adolescence and adulthood. Some people with AIS may want to discuss surgery and hormone therapy with their specialist team. However, psychological support and advice is probably the most important part of care.
What happens to a person that has androgen insensitivity disorder?
Complete androgen insensitivity syndrome occurs when the body cannot use androgens at all. People with this form of the condition have the external sex characteristics of females, but do not have a uterus and therefore do not menstruate and are unable to conceive a child (infertile).
Can you live with AIS?
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 do you know if you have androgen insensitivity?
What are the symptoms of androgen insensitivity syndrome?Abnormally tall stature for a female during puberty.Amenorrhea (no menstrual periods).Little or no pubic hair or underarm hair during puberty.Narrow or shallow vagina.Undescended testicles (testicles that are still in your abdominal cavity).
Do people with androgen insensitivity have vaginas?
Complete androgen insensitivity syndrome (CAIS) CAIS is not usually obvious from birth because affected babies have female genitals, including a vagina and labia (folds of skin either side of the vaginal opening).
What do people with AIS look like?
A person with complete AIS appears to be female but has no uterus. They have very little armpit and pubic hair. At puberty, female sex characteristics (such as breasts) develop. However, the person does not menstruate and become fertile.
Can a man with AIS have a baby?
There are specialist healthcare psychologists who can help people with AIS understand their bodies and sex development. The sex development of people with AIS means they will not be able to become pregnant or make their partner pregnant.
Can people with AIS produce sperm?
Because they do not have ovaries and may have issues with the development of the testes, many people with PAIS are infertile, because they produce no or very little sperm. Also, some individuals with PAIS may develop breasts (gynecomastia) during puberty. Other people with PAIS may have more male-appearing features.
Do people with AIS have high testosterone?
check for a genetic change – AIS is caused by an alteration on the X chromosome, the sex chromosome a child with AIS receives from their mother. measure sex hormone levels – children with AIS tend to have high levels of testosterone (the male sex hormone) in their blood.
How much does an AIS cost?
between $200 and $400AIS receivers are built by all the major electronics manufacturers, plus a few specialty companies. Cost generally ranges between $200 and $400.
What is the maximum range of AIS?
The AIS signals have a horizontal range of about 40 nautical miles (74 km), meaning that AIS traffic information is only available around coastal zones or in a ship-to-ship zone. AIS communication takes place using two VHF frequencies, 161.975 MHz and 162.025 MHz, using a bandwidth of 25 kHz.
Does AIS require a subscription?
AIS information is free and no subscription is required. All you need to take full advantage of AIS is a VHF or AIS antenna and AIS receiver (and/or transceiver), plus a compatible chartplotter or smartphone/tablet.
Does AIS work in the middle of the ocean?
Each individual satellite can also cover a very large area. The result is that individual vessels or entire fleets can now be monitored wherever they are in the world, be it the middle of the Pacific Ocean or in the most isolated inland sea, as long as each has an AIS transponder fitted and operational.
Overview
Androgen insensitivity syndrome (AIS) occurs when someone is genetically male but is insensitive to androgens (male sex hormones). This means the person has male sex chromosomes (one X and one Y chromosome) but may have female genitals.
Symptoms and Causes
AIS is the result of an abnormal X-linked gene, meaning it’s a gene on the X chromosome and the mother passes it to her child. The gene can’t produce androgen receptors. These are cells that allow your body to respond to androgens, such as testosterone.
Diagnosis and Tests
A healthcare provider can often diagnose PAIS right after birth by looking at a baby’s genitals. But CAIS or MAIS might not be evident until the age of 11 or 12 when puberty begins. This is the time when a healthcare provider might notice issues. A child with CAIS may not be having menstrual periods or have any pubic hair.
Management and Treatment
Treatment for AIS depends on sex assignment, which is the gender chosen for an infant at birth. Most treatments take place after puberty. This gives your child’s body time to go through developmental changes. It also allows your child to play a more active role in their treatment decisions.
Prevention
There’s no way to prevent AIS. If you have a family history of the disease and worry about passing the abnormal gene to your child, genetic testing can help you find out if you’re a carrier.
Living With
Caring for your child’s psychological health is a huge part of managing AIS. A strong support system of healthcare providers, friends and family members who understand their condition is important. Support groups can also help your child share their experiences with others who are going through similar challenges.
Gender identity
Gender identity is something that a person becomes aware of as they grow up. It's how they feel and how they show themselves to others when living as male, female or non-binary.
Talking to a child about AIS
Parents often wonder when and what they should say to their child about their AIS.
Support for parents
If a child is diagnosed with AIS, parents should be offered specialist counselling to help them understand their emotions.
Support for children
Many young children with AIS do not need special psychological help because their condition is completely natural to them.
Surgery
Children with PAIS will sometimes be offered surgery to help change their body and maintain their health.
Hormone therapy
Women with CAIS who have had their testicles removed will need to take oestrogen to prevent the menopause and osteoporosis.
How common is androgen insensitivity?
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.
What is the gene that causes androgen insensitivity?
Expand Section. Mutations in the AR gene cause androgen insensitivity syndrome. This gene provides instructions for making a protein called an androgen receptor. Androgen receptors allow cells to respond to androgens, which are hormones (such as testosterone) that direct male sexual development.
How many cases of androgen insensitivity are inherited?
About two-thirds of all cases of androgen insensitivity syndrome are inherited from mothers who carry an altered copy of the AR gene on one of their two X chromosomes. The remaining cases result from a new mutation that can occur in the mother's egg cell before the child is conceived or during early fetal development.
What is the name of the syndrome where the body is partially sensitive to androgens?
The partial and mild forms of androgen insensitivity syndrome result when the body's tissues are partially sensitive to the effects of androgens. People with partial androgen insensitivity (also called Reifenstein syndrome) can have genitalia that look typically female, genitalia that have both male and female characteristics, ...
What is the effect of mutations in the AR gene on androgen receptors?
Mutations in the AR gene prevent androgen receptors from working properly , which makes cells less responsive to androgens or prevents cells from using these hormones at all. Depending on the level of androgen insensitivity, an affected person's sex characteristics can vary from mostly female to mostly male.
Is androgen insensitivity male or female?
They may be raised as males or as females and may have a male or a female gender identity. People with mild androgen insensitivity are born with male sex characteristics, but they are often infertile and tend to experience breast enlargement at puberty.
How to prevent androgen insensitivity syndrome?
Androgen insensitivity syndrome prevention revolves around the identification of women who may carry the gene. Provide appropriate nondirective counseling, including information about the condition and the woman's risk of having an affected child, so that she can make an informed decision about whether to have children.
How to support androgen insensitivity?
Contact with other individuals who have androgen insensitivity syndrome is another source of psychological and emotional support for the patient. The Androgen Insensitivity Syndrome Support Group (AISSG) has constituent organizations in the United States, United Kingdom, and Australia, as well as contacts and/or smaller groups in many European countries. AISSG maintains an excellent Web site at www.aissg.org that provides a large amount of medical information, AISSG contact points, and patients' accounts of their experiences with AIS. This type of contact can markedly decrease feelings of "freakishness" and "being the only one," which patients and families frequently experience.
What is HRT therapy?
Hormone replacement therapy. HRT is the first and less complex aspect. All patients with complete androgen insensitivity syndrome (CAIS) and most patients with all but the mildest forms of partial androgen insensitivity syndrome (PAIS) undergo gonadectomy at some point in their treatment. Adolescent and adult patients with androgen insensitivity ...
Can androgen insensitivity be treated concurrently?
In addition, many women with androgen insensitivity syndrome require vaginal lengthening procedures. Orchidectomy and vaginal lengthening procedures may be performed concurrently if surgery is postponed until the patient matures. Ultrasound examination of the gonads can monitor potential tumor development.
Can DHT be used for androgen insensitivity?
For individuals with partial androgen insensitivity syndrome, traditional therapy has mirrored therapy for individuals with complete androgen insensitivity syndrome. Patients with partial androgen insensitivity syndrome who have a male gender identity, however, may be treated with testosterone and/or dihydrotestosterone (DHT). The advantage of DHT is that it cannot be aromatized to estrogen. No medical consensus has been reached about this therapy, and no dosage schedules have been established. Therapy may vary depending on the nature of the gene defect. [ 30]
Should a therapist deal with intersex patients?
If at all possible, the therapist also should have experience dealing with patients who have intersex conditions, even if this experience is not specific to androgen insensitivity syndrome. The patient needs to establish a long-term relationship with the therapist to discuss new issues that arise as the child matures.
Do women with androgen insensitivity need progesterone?
The general belief is that these women do not require progesterone because they have no uterus.
What is the most important thing to know about androgen insensitivity syndrome?
Perhaps the most important thing to know about androgen insensitivity syndrome is that a diagnosis is not an emergency. If you or your child has been diagnosed with AIS, you don't need to do anything right now. You can take time to do your own research and make your own decisions.
What is androgen insensitivity?
Coping. Androgen insensitivity is an umbrella term for a number of genetic conditions where the body does not respond appropriately to testosterone and other androgens. There are multiple causes of androgen insensitivity syndromes (AIS). However, these conditions can broadly be divided into partial androgen insensitivity ...
What hormones are involved in androgen insensitivity?
When someone has complete androgen insensitivity syndrome. Sex hormones are also known as steroid hormones, and they include estrogen and testosterone. The masculinizing group of steroid hormones is known as androgens ( andro - is the Greek prefix for male).
What is the difference between a partial androgen insensitivity and a complete androgen insensitivity?
With partial androgen insensitivity, the body has limited sensitivity to androgens. With complete androgen insensitivity, the body can't respond to androgens at all.
Why is androgen insensitivity called testicular feminization syndrome?
When such girls continued to not menstruate, it was discovered that some of them had testes instead of ovaries. It was not until later that it was discovered that androgen insensitivity was caused by mutations in the androgen receptor gene.
How many people are affected by androgen insensitivity?
It is thought to affect around 13 out of every 100,000 individuals. Complete androgen insensitivity affects one in every 20,000 to 64,000 newborn males. The prevalence of partial androgen insensitivity is not known.
Can the body respond to androgens?
With complete androgen insensitivity, the body can't respond to androgens at all. There are also mild androgen insensitivity syndromes (MAIS). Androgen insensitivity syndromes fall under the broader category of disorders of sexual development or differences of sexual development—DSDs.
Treatment
There are reconstructive surgeries and hormone replacement therapies available to those with androgen insensitivity syndrome (AIS). An evaluation by specialists in disorders of sex development (DSD), which includes AIS, is recommended in order to determine the extent and needs of those with AIS.
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