Androgen insensitivity syndrome (patient information)
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What is androgen insensitivity syndrome?
How do I know if I have androgen insensitivity syndrome and what are the symptoms of androgen insensitivity syndrome?
The typical characteristic of androgen insensitivity syndrome is feminization. It can be divided into two main categories: complete androgen insensitivity syndrome and incomplete androgen insensitivity syndrome.
Complete androgen insensitivity syndrome
- When born, because of external sex characteristics of females, this type of people are usually raised as females and have a female gender identity.
- During puberty, their female secondary sex characteristics, such as breasts develope. At the same time, they have sparse or absent hair in the pubic area and under the arms. They do not menstruate and testes are undescended.
- At adult, they are unable to conceive a child for without uterus. Undescended testes can become cancerous later in life if they are not surgically removed.
Incomplete androgen insensitivity syndrome
- When born, they may have normal female sex characteristics, both male and female sex characteristics, or normal male sex characteristics. They may be raised as males or as females, and may have a male or a female gender identity.
- During puberty, people with mild androgen insensitivity tend to experience female secondary sex characteristics, such as breast enlargement. Many of them have partial closing of the outer vaginal lips, an enlarged clitoris, and a short vagina but no cervix or uterus. Their testes locate in the abdomen or other unusual places in the body.
- In adult, they are often infertile.
Who is at risk for androgen insensitivity syndrome?
Mutations in the AR gene is the cause of androgen insensitivity syndrome. This gene controls the making of a protein called androgen receptor. The mutative gene prevents androgen receptors from working properly. Thus, it makes cells less sensitive response to androgens or prevents cells from using these hormones at all. At last, it makes the body unable to respond to the hormones responsible for the male appearance.
How to know you have androgen insensitivity syndrome?
- Blood levels of testosterone, follicle-stimulating hormone (FSH) and luteinizing hormone (LH): In patients with androgen insensitivity syndrome, normal blood level of testosterone, normal or high normal level of follicle-stimulating hormone (FSH) may be detected. The level of luteinizing hormone (LH) may be mild higher than normal people. These are important different characteristics between androgen insensitivity syndrome and androgen deficiency.
- Pelvic ultrasound
- Genetic testing: Genetic detect can be done in a gene lab and the patient's blood is analysed by some molecular biology techniques. Researchers may find AR gene mutations in the patients with androgen insensitivity syndrome.
When to seek urgent medical care?
Call your health care provider if you or your child have signs or symptoms of the syndrome.
Treatment options
Diseases with similar symptoms
Where to find medical care for androgen insensitivity syndrome?
Directions to Hospitals Treating androgen insensitivity syndrome
Prevention of androgen insensitivity syndrome
What to expect (Outook/Prognosis)?
Copyleft Source
http://www.geneclinics.org/profiles/androgen/details.html
http://www.nlm.nih.gov/medlineplus/ency/article/001180.htm
http://ghr.nlm.nih.gov/condition=androgeninsensitivitysyndrome