How is CAIS diagnosed?
How is CAIS diagnosed?
Testing and diagnosis Partial androgen insensitivity may be diagnosed at birth because of the presence of male and female sexual traits. Tests used to confirm this condition include blood work to check hormone levels, genetic testing and pelvic ultrasound.
What is CAIS disease?
Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS; see this term), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age- …
Do people with CAIS have uterus?
Individuals affected by CAIS develop a normal external female habitus, despite the presence of a Y chromosome, but internally, they will lack a uterus, and the vaginal cavity will be shallow, while the gonads, having been turned into testicles rather than ovaries in the earlier separate process also triggered by their …
What causes CAIS?
CAIS occurs when there is a problem with one of the genes on the X chromosome. This specific gene is called an androgen receptor gene. It governs how a developing fetus responds to androgens – hormones that bring about male characteristics. A child with CAIS has a genetic makeup of XY.
What is characteristic of Turner’s syndrome?
Features of Turner syndrome may include a short neck with a webbed appearance, low hairline at the back of the neck, low-set ears, hands and feet that are swollen or puffy at birth, and soft nails that turn upward. Stature.
Can people with CAIS have children?
The sex development of people with AIS means they will not be able to become pregnant or make their partner pregnant.
What is female testicular syndrome?
Androgen insensitivity (testicular feminization) syndrome is a rare inherited form of male pseudohermaphroditism that occurs in phenotypically normal women with adequate breast development, normal external genitalia, a vagina of variable depth, absent uterus, and sparse or absent pubic hair and axillary hair.
What is mild androgen insensitivity syndrome?
Mild androgen insensitivity syndrome (MAIS) is a genetic condition that is also caused by changes in the AR gene. Males with this condition have normal male external genitals. They may have some breast development during puberty and may also have sparse body hair and a small penis.
What are three symptoms of Turner syndrome?
Signs of Turner syndrome at birth or during infancy may include:
- Wide or weblike neck.
- Low-set ears.
- Broad chest with widely spaced nipples.
- High, narrow roof of the mouth (palate)
- Arms that turn outward at the elbows.
- Fingernails and toenails that are narrow and turned upward.
What does complete androgen insensitivity syndrome mean?
Complete androgen insensitivity syndrome 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.
When to remove androgen insensitivity syndrome testes?
Other blood tests may be done to help tell the difference between AIS and androgen deficiency. Testicles that are in the wrong place may not be removed until a child finishes growing and goes through puberty. At this time, the testes may be removed because they can develop cancer, just like any undescended testicle.
What should I do if I have partial androgen insensitivity?
Women may also need some psychological support around their identity. In addition, some may need to undergo dilation to increase vaginal depth, similar to with MRKH . Treatment for partial androgen insensitivity is more variable. Historically, individuals with ambiguous genitalia were subject to genital surgeries.
What are the function of androgen receptors in the body?
Androgen receptors allow cells to respond to androgens, which are hormones (such as testosterone) that direct male sexual development. Androgens and androgen receptors also have other important functions in both males and females, such as regulating hair growth and sex drive.