Check out the treatment and symptoms of Androgen Insensitivity Syndrome, a condition that affects sexual development before birth and during puberty.
A group of genetic disorder which affects the growth of both the genital and reproductive organs is commonly known as androgen insensitivity syndrome (AIS). The cases of complete Androgen insensitivity syndrome are uncommon but cases of mild androgen resistance are common and are frequently the cause behind male infertility. When a person who is genetically male (has one X and one Y chromosome) and is resistant to male hormones called androgens, androgen insensitivity syndrome takes place. It affects sexual development before birth and the secondary sexual development in puberty.
The person has some or all of the physical characteristics of a woman, despite having the fact the genetic make up of a man. Due to a gene mutation, it takes place very rarely. This disorder is X-linked recessive trait in which the baby is born with testis and possesses male and female characteristics. Complete androgen insensitivity syndrome takes place when the body can’t use androgens at all and it affects 2 to 5 per 100,000 live male births. Partial androgen insensitivity also commonly occurs but mild androgen insensitivity is much less common. Typically, it includes evidence of feminization (i.e., undermasculinization) of the external genitalia at birth and infertility.
To understand and manage various forms of AIS, major changes have occurred since 1990. Some researches have greatly expanded the understanding of the molecular mechanisms of the clinical features with the inclusion of a rare neuromuscular disorder. Patient advocacy groups for AIS and other intersex conditions have raised public awareness of these disorders and helped to revise understanding of gender identity, accentuated the value of accurate and sophisticated information for patients, and induced physicians to re-assess the effectiveness of the surgical corrections attempted in past decades.
Causes of Androgen Insensitivity Syndrome:
Androgen insensitivity syndrome (AIS) is caused by various genetic defects on the X chromosome. These genetic defects make the body not capable to respond to the hormones responsible for the male appearance. It is mainly caused by a mutation of the androgen receptor gene which is present in the X-chromosome.
The syndrome is divided into two main categories:
- Complete AIS
- Incomplete AIS
These different types of AIS may be caused by the mutation of more than 100 AR. Mild forms of AIS is caused by simple mutation of missense. The process includes the mutation of one or more amino acid. Complicated mutation of the protein is the cause of complete androgen insensitivity syndrome. Several changes take place in the protein’s shape and structure due to these mutations.
The development of the penis and other male body parts is retarded in complete androgen insensitivity. The child born appears to be a girl and the complete form of the syndrome take place in as many as 1 in 20,000 live births. In persons with incomplete AIS, the degree of sexual vagueness varies widely.
Other disorders are also included in incomplete AIS, for example Reifenstein syndrome (also known as Gilbert-Dreyfus syndrome or Lubs syndrome) which is related with breast development in men, failure of one or both testes fail to go down into the scrotum after birth, and hypospadias. Hypospadias is a condition in which the opening of the urethra is on the underside, not at the tip of the penis. Infertile male syndrome also comes into category of incomplete AIS, which is sometimes caused due to an androgen receptor disorder.
Symptoms of Androgen Insensitivity Syndrome:
A person with this form of the condition has the external sex characteristics of female but has no uterus and has very little armpit and pubic hair. Such person does not menstruate and are unable to conceive a child (infertile) because he does not have a uterus. Female secondary sex characteristics (such as breasts) develop at puberty but menstruation and fertility do not. Many affected individuals have partial closing of the outer vaginal lips, an enlarged clitoris, and a short vagina.
There may be:
- A vagina but no cervix or uterus
- Normal female breast development
- Testes in the abdomen or other unusual places in the body
- Inguinal hernia with a testis that can be felt during a physical exam
An affected individual has male internal sex organs (testes) that are undescended that means they are abnormally situated in the pelvis or abdomen. Later in life, undescended testes can become malignant if they are not surgically eliminated. People with this condition have one X chromosome and one Y chromosome in each cell.
Diagnosis of Androgen Insensitivity Syndrome:
In rare case, the complete AIS is discovered during childhood, unless a mass is felt in the abdomen or groin that turns out to be a testicle when it is explored surgically. Diagnosis is not easily carried out until they fail to menstruate or have difficulties becoming pregnant. Incomplete AIS is frequently diagnosed during childhood as the person may have both male and female physical characteristics.
AIS can be sub-divided into three phenotypes:
- Complete androgen insensitivity syndrome (CIAS)
- Partial androgen insensitivity syndrome (PAIS)
- Mild androgen insensitivity syndrome (MAIS)
CAIS is usually diagnosed on clinical findings and laboratory evaluations alone. For the diagnosis of PAIS and MAIS, a family history may also require in consistent with X-linked inheritance.
Tests used for diagnosis include:
- Genetic testing (karyotyping)
- Pelvic ultrasound
- Blood work to check levels of testosterone, luteinizing hormone (LH), and follicle-stimulating hormone (FSH)
Other blood tests are also performed which help to differentiate between AIS and androgen deficiency.
How do people inherit androgen insensitivity syndrome?
This condition is hereditary in an X-linked recessive pattern. A condition is believed X-linked, if the mutated gene that causes the disorder is situated on the X chromosome (one of the two sex chromosomes). From all cases of androgen insensitivity syndrome, approximately 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.
One altered copy of the gene is sufficient to cause the condition in males having only one X chromosome. X-linked recessive disorders mostly affect males than females. A mutation must be present in both copies of the gene to cause the disorder in genetic females (who have two X chromosomes). The remaining cases result from a new mutation that can take place in the mother’s egg cell previous to the child is conceived or during early fetal development.
Treatment of Androgen Insensitivity Syndrome:
The treatment plan for a patient with androgen insensitivity syndrome includes:
- Hormone replacement therapy (HRT):
Hormone replacement therapy is considered first in case of AIS, as it is less complex and adults and adolescent patients require hormone replacement. This therapy includes replacement of the hormone estrogen. Male gender identity can be treated with testosterone or dihydrotestosterone.
Progesterone is also given if it is required along with estrogen. Depending upon the nature of the gene defect, the hormonal replacement therapy can vary.
- Psychological support:
For the treatment of AIS, psychological support is one of the most important medical care. To understand the nature of the condition and to identify other potential carriers, patients require genetic counseling.
Adults who suffer from this syndrome may lack emotional and psychological support. Other individuals who also suffer from this disorder give the required emotional and psychological support to the patient. The AIS support group has many organizations in the United States that support patients suffering from this syndrome.
- Surgical care:
Orchidectomy is the standard surgery for individuals suffering from this disorder. Female gender identity may require vaginal lengthening procedures. During infancy, cosmetic re-constructive surgeries can also be carried out.
Initially, the doctor may evaluate the disorder and take an ultrasound and decide the type of intervention required, according to the condition of the patient. If affected is person treated at the correct time, then improvement is seen in a patient suffering from this disorder.
Outlook (Prognosis):
For complete AIS, the outlook is good if at-risk testicular tissue is detached at the proper time. The outlook for incomplete AIS depends on the existence and severity of ambiguous genitalia.
Possible Complications:
Testicular cancer, infertility, and complex psychosocial issues are the possible complications of AIS.
Facts and Tips about AIS:
- AIS expand a male gender entity resistant to male hormones also known as androgens, resulting in physical characteristics of a woman in man.
- Androgen insensitivity syndrome affects 2 to 5 per 100,000 people who are genetically male.
- An individual with complete AIS syndrome appears some symptoms like to be female but has no uterus, and has very little armpit and pubic hair and female secondary sex characteristics for example breasts.
- If you or your child has signs or symptoms of the androgen insensitivity syndrome, then consult your health care provider or doctor.
- Estrogen replacement is prescribed after puberty to treat this disorder and person must be individualized with great care.
- Androgen insensitivity syndrome causes various genetic defects on the X chromosome that make the body not capable to respond to the hormones accountable for the male appearance.
i have heard that american actress jamie lee curtis has androgen insensitivity syndrome. is it true? some says she was born with ais. what is the truth?