Androgen Insensitivity Syndrome
Androgen Insensitivity
Syndrome
Sara L.
Condition
• Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. • It results in the partial or complete inability of the cell to respond to androgens
• Androgen is a male sex hormone; testosterone
• People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell
• There are two types of androgen insensitivity; complete androgen insensitivity and partial androgen insensitivity. • Individuals with complete androgen insensitivity syndrome have female external genitalia with normal labia, clitoris, and vaginal introits.
Phenotypes
• Clinical phenotypes in these individuals range from a normal male
habitus or reduced secondary terminal hair, to a full female habitus despite the presence of a Y-chromosome.
• Because their bodies are unable to respond to androgen, they may have mostly female sex characteristics or signs of both male and female sexual development. What causes Androgen
Insensitivity?
• Mutations in the AR gene cause androgen insensitivity syndrome.
• The gene provides instructions for making a protein called an androgen receptor. • Androgen receptors allow cells to respond to androgens, which are hormones (such as testosterone) that direct male sexual development.
Inheritance
• This condition is inherited in an Xlinked recessive pattern
• A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. • 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
Treatment
• Most people with androgen insensitivity syndrome undergo gonadectomy. • Hormone therapy is also an option which replaces estrogen.
• They may also be treated with testosterone if they have partial androgen insensitivity with male genitals. Longevity
• People with this genetic disorder can have a healthy and average long life.
• But, to decrease the chances of breast cancer, hormone treatment is recommended. Complete Androgen
Insensitivity
People with complete androgen insensitivity do not menistrate and cannot have children.
They have complete female bodies BUT they do not have ovaries; instead they have testes. The Y chromosome IS present but the female habitus and hormones develop.
Video
• http://www.youtube.com/watch?
v=TCZdFe5sgow
Syndrome
Sara L.
Condition
• Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. • It results in the partial or complete inability of the cell to respond to androgens
• Androgen is a male sex hormone; testosterone
• People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell
• There are two types of androgen insensitivity; complete androgen insensitivity and partial androgen insensitivity. • Individuals with complete androgen insensitivity syndrome have female external genitalia with normal labia, clitoris, and vaginal introits.
Phenotypes
• Clinical phenotypes in these individuals range from a normal male
habitus or reduced secondary terminal hair, to a full female habitus despite the presence of a Y-chromosome.
• Because their bodies are unable to respond to androgen, they may have mostly female sex characteristics or signs of both male and female sexual development. What causes Androgen
Insensitivity?
• Mutations in the AR gene cause androgen insensitivity syndrome.
• The gene provides instructions for making a protein called an androgen receptor. • Androgen receptors allow cells to respond to androgens, which are hormones (such as testosterone) that direct male sexual development.
Inheritance
• This condition is inherited in an Xlinked recessive pattern
• A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. • 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
Treatment
• Most people with androgen insensitivity syndrome undergo gonadectomy. • Hormone therapy is also an option which replaces estrogen.
• They may also be treated with testosterone if they have partial androgen insensitivity with male genitals. Longevity
• People with this genetic disorder can have a healthy and average long life.
• But, to decrease the chances of breast cancer, hormone treatment is recommended. Complete Androgen
Insensitivity
People with complete androgen insensitivity do not menistrate and cannot have children.
They have complete female bodies BUT they do not have ovaries; instead they have testes. The Y chromosome IS present but the female habitus and hormones develop.
Video
• http://www.youtube.com/watch?
v=TCZdFe5sgow