What are the other Names for this Condition? (Also known as/Synonyms)

• CAIS (Complete Androgen Insensitivity Syndrome)

What is Complete Androgen Insensitivity Syndrome? (Definition/Background Information)

• Complete Androgen Insensitivity Syndrome (CAIS) is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male (one X and one Y chromosome), but do not respond to male hormones at all
• As a result, they generally have normal female external genitalia and female breasts. However, they do not have a uterus or cervix so are unable to menstruate or conceive children
• Other signs and symptoms may include undescended testes and sparse to absent pubic hair. Gender identity is typically female
• Complete Androgen Insensitivity Syndrome is caused by changes (mutations) in the AR gene and is inherited in an X-linked manner
• Treatment and gender assignment can be a very complex issue, and must be individualized with each affected person. In general, surgery may be required to remove testes that are located in unusual places and estrogen replacement therapy can be prescribed after puberty

(Source: Complete Androgen Insensitivity Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Complete Androgen Insensitivity Syndrome? (Age and Sex Distribution)

• Complete Androgen Insensitivity Syndrome is a rare congenital disorder. The presentation of symptoms may occur before birth and at puberty
• The condition affects individuals who are genetically male
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Complete Androgen Insensitivity Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Complete Androgen Insensitivity Syndrome can be inherited
• Currently, no other risk factors have been clearly identified for the syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Complete Androgen Insensitivity Syndrome? (Etiology)

• Complete Androgen Insensitivity Syndrome is caused by changes (mutations) in the AR gene and is inherited in an X-linked manner

(Source: Complete Androgen Insensitivity Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

X-linked recessive pattern of inheritance: The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

What are the Signs and Symptoms of Complete Androgen Insensitivity Syndrome?

The signs and symptoms of Complete Androgen Insensitivity Syndrome may include:

• Absent axillary hair
• Absent pubic hair
• Aplasia of the uterus
• Aplasia/hypoplasia of the fallopian tube
• Cryptorchidism
• Infertility
• Male pseudohermaphroditism
• Nephrolithiasis
• Primary amenorrhea
• Inguinal hernia
• Osteoporosis
• Gynecomastia
• Muscle cramps
• Sensory neuropathy
• Testicular gonadoblastoma
• Tremor

(Source: Complete Androgen Insensitivity Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Complete Androgen Insensitivity Syndrome Diagnosed?

Complete Androgen Insensitivity Syndrome is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Complete Androgen Insensitivity Syndrome?

The complications of Complete Androgen Insensitivity Syndrome may include:

• Low self-esteem due to gender ambiguity
• Depression
• Risk of fractures due to osteoporosis
• Infertility

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Complete Androgen Insensitivity Syndrome Treated?

• The treatment and gender assignment for Complete Androgen Insensitivity Syndrome can be a very complex issue, and must be individualized with each affected person
• In general, surgery may be required to remove testes that are located in unusual places and estrogen replacement therapy can be prescribed after puberty

(Source: Complete Androgen Insensitivity Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How can Complete Androgen Insensitivity Syndrome be Prevented?

Currently, Complete Androgen Insensitivity Syndrome may not be preventable, since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Complete Androgen Insensitivity Syndrome? (Outcomes/Resolutions)

• The prognosis of Complete Androgen Insensitivity Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
• An affected individual may identify with the male or female gender, depending on the extent of insensitivity to androgens. In either case, affected individuals are not able to sire or conceive children

Additional and Relevant Useful Information for Complete Androgen Insensitivity Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/