Did you know, parents, that there is a genetic condition that affects the sexual development of a fetus? This rare sexual development disorder is known as androgen insensitivity syndrome (AIS). This condition was previously referred to as testicular feminization syndrome.
Children with androgen insensitivity syndrome will become infertile when they grow up. However, with psychological support and hormone replacement therapy, they can lead a normal life. So, is this condition dangerous for a child’s growth and development, particularly in terms of sexual development in the future?
Definition
Androgen insensitivity syndrome ( AIS) is when a person who is genetically male (having one X and one Y chromosome) is resistant to male hormones (called androgens). As a result, the person has some physical characteristics of a woman, but the genetic makeup of a man.
People with AIS are genetically male, but do not develop male external genitalia because their bodies cannot respond to male sex hormones. This means the person has male sex chromosomes (one X chromosome and one Y chromosome), but may have female genitalia. AIS can cause problems during puberty, as well as infertility.
This disorder affects male fetuses as they develop in the womb, as well as sexual development during puberty. AIS prevents male genitalia from developing properly. It almost always results in infertility during adulthood.
Type
There are three types of AIS:
Complete Androgen Insensitivity Syndrome
Complete androgen insensitivity syndrome (CAIS) is a condition in which a person’s external genitalia appear female. However, they do not have female sex organs (no ovaries, fallopian tubes , or uterus). People with CAIS are often raised as girls.
Partial Androgen Insensitivity Syndrome
Partial androgen insensitivity syndrome (PAIS) is a condition in which a person’s external genitalia may appear partially (not fully) developed as either male or female, or may not be clearly one or the other. People with PAIS are often raised as boys, but not always.
Mild Androgen Insensitivity Syndrome
Mild androgen insensitivity syndrome (MAIS) is a condition in which a person’s genitals appear male, but are usually infertile. Some experts consider MAIS to be a type of PAIS.
Frequency of Occurrence
Androgen insentivity syndrome is rare. In CAIS, the penis and other male body parts fail to develop. At birth, the child looks like a girl. The full form of the syndrome occurs in 1 in 20,000 live births.
While PAIS, people have varying amounts of male traits. About 1 in 99,000 baby boys are born with partial androgen insensitivity syndrome.
At What Age Do Symptoms Start to Appear?
Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. CAIS is rarely found during childhood. Occasionally, a growth is felt in the abdomen or groin that turns out to be a testicle when explored.
Symptom
The most common symptom in all forms of androgen insensitivity syndrome is infertility.
A person with CAIS appears female but does not have a uterus. They have very little underarm and pubic hair. At puberty, female sex characteristics (such as breasts) develop. However, the person does not menstruate and is fertile. Other signs and symptoms of CAIS include:
- An abnormal stature for a girl 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 the abdominal cavity).
People with PAIS may have both male and female physical characteristics. Many have partial closure of the external vagina, an enlarged clitoris, and a short vagina. Other signs and symptoms of PAIS may include:
- Bifid scrotum (penis sac split in two).
- Clitoromegaly (enlarged clitoris).
- Gynecomastia (enlargement of male breast tissue).
- Hypospadias (the urethral opening is on the underside of the penis, not at the tip).
- Labial adhesions (lips of skin around the vagina seal closed).
- Micropenis (abnormally small penis).
- Partially undescended testicles.
Other signs and symptoms of MAIS include:
- Gynecomastia
- Micropenis
- Sparse body hair
It is very rare for people with PAIS or MAIS to get their partners pregnant. Even if they have a very small penis, sperm production is usually low or nonexistent.
Reason
Quoted from the Medlineplus page , androgen insentivity syndrome is caused by a genetic defect in the X chromosome. This defect makes the body unable to respond to hormones that produce a male appearance. This genetic change is passed down the female line to children.
Although people with androgen insensitivity syndrome have XY chromosomes (the usual male pattern), the body does not respond fully or at all to testosterone (the sex hormone). This prevents the development of typical male sex characteristics. The penis is either absent or underdeveloped. This means the child’s genitals may develop as female, or underdeveloped as male. The child may have partially or fully undescended testicles. But there will be no uterus or ovaries.
Mothers who carry the genetic change will not have AIS themselves, but there is a 1 in 4 chance that any child they have will be born with AIS.
Diagnosis
Health care providers can often diagnose PAIS soon after birth by looking at the baby’s genitals. However, CAIS or MAIS may not be apparent until age 11 or 12 when puberty begins. This is when health care providers may notice problems in a child.
PAIS is often discovered during childhood because the person may have both male and female physical characteristics.
Tests used to diagnose this condition may include:
- Blood tests work to check levels of testosterone, luteinizing hormone (LH), and follicle-stimulating hormone (FSH).
- Genetic testing (karyotype) to determine a person’s genetic makeup
- Pelvic ultrasound
- Other blood tests may be done to help differentiate between AIS and androgen deficiency.
If you have a family history of AIS, you may choose to have genetic testing if you are considering having children. These tests can tell you if you are a carrier of the abnormal gene.
Risk Factors
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 new mutations that may occur in the mother’s eggs before the child is conceived or during early fetal development.
Complications
Androgen insensitivity syndrome, whether complete or partial, has little medical morbidity or mortality. However, a study published in the journal Maturitas said that several small studies have found a higher risk of obesity , hyperlipidemia (high cholesterol), and impaired insulin sensitivity.
A child with CAIS may not have menstrual periods or have pubic hair. Most people with CAIS are not diagnosed until they are not getting their periods or they are having difficulty getting pregnant.
A child with MAIS may continue to have a very small penis or develop breast tissue. Puberty also occurs when an undescended testicle can herniate, or protrude through a hole in the abdominal wall. Sometimes, a health care provider discovers an undescended testicle if a child has surgery for an inguinal hernia.
Even beyond infertility, androgen insensitivity syndrome can increase the risk of certain cancers.
Prevention
According to the Cleveland Clinic , there is no way to prevent androgen insensitivity syndrome . However, children with AIS and their parents should be supported by a team of specialists, who will offer ongoing care.
Maintenance
Treatment for AIS depends on the sex assigned to the baby at birth. Most treatments are done after puberty. This gives your child’s body time to go through developmental changes. A team of specialists will help parents understand their child’s sex development.
In the case of PAIS, they will talk to you about why they recommend raising your child as a boy or a girl. Children with PAIS will be raised as either a girl or a boy, largely depending on how well their bodies respond to hormones (androgens), including testosterone. Parents and a team of specialists will decide together what you think is in your child’s best interests.
Most children with CAIS are raised as girls. Once parents learn about their child’s sex development, and understand how their body will grow and develop, a team of specialists can explain the treatment options that your child may have in the future.
However, some health experts think certain treatments, such as testicular removal, should be done before puberty. They think other treatments can occur after puberty is complete. This reduces the risk of gonadoblastoma, a tumor that can form in an undescended testicle.
Children raised as boys may choose to:
- Surgery to correct their male genitalia, such as hypospadias repair or orchiopexy (surgery to move an undescended testicle into the scrotum).
- Breast reduction surgery to remove excess breast tissue.
- Hernia repair to close the open or weakened tissue in their abdominal wall.
- Hormone therapy with testosterone.
Children raised as girls may choose to:
- Surgery to remove the male genitalia or extra clitoral tissue.
- Nonsurgical vaginal dilation to make their vagina deeper.
- Hormone therapy with estrogen.
Parents and health care providers may decide not to assign a sex at birth. Sometimes, they wait until puberty to choose one. Or parents may want their child to choose their own gender identity.
In some cases, older children and adults with AIS feel like their gender identity doesn’t match the gender they were raised as. This is known as gender dysphoria. According to the National Health Service , people with gender dysphoria often have a desire to live as a member of the opposite sex or as non-binary.
Most importantly, if your child is diagnosed with androgen insensitivity syndrome , parents should talk to them about gender identity issues. They may want treatment to make their physical appearance more consistent with their gender identity or how they choose to identify.
Hopefully the information above is useful!
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Republished with permission from theAsianparent Indonesia
