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Androgen insensitivity syndrome (AIS) is a condition involving the inability to respond to androgens, typically due to androgen receptor dysfunction. [ 1 ] It affects 1 in 20,000 to 64,000 XY (karyotypically male) births. The condition results in the partial or complete inability of cells to respond to androgens. [ 2 ]
Partial androgen insensitivity syndrome (PAIS) is a condition that results in the partial inability of the cell to respond to androgens. [1][2][3] It is an X linked recessive condition. The partial unresponsiveness of the cell to the presence of androgenic hormones impairs the masculinization of male genitalia in the developing fetus, as well ...
The AR protein (pictured) mediates the effects of androgens in the human body. Complete androgen insensitivity syndrome (CAIS) is an AIS condition that results in the complete inability of the cell to respond to androgens. [1][2][3] As such, the insensitivity to androgens is only clinically significant when it occurs in individuals who are ...
Mild androgen insensitivity syndrome (MAIS) is a condition that results in a mild impairment of the cell's ability to respond to androgens. [1] [2] [3] The degree of impairment is sufficient to impair spermatogenesis and / or the development of secondary sexual characteristics at puberty in males, but does not affect genital differentiation or development.
Partial androgen insensitivity syndrome (PAIS) – a condition which partially affects a genetic male's ability to recognize androgens. It is considered a form of androgen insensitivity syndrome and while it is not as severe as complete androgen insensitivity syndrome, it is more severe than mild androgen insensitivity syndrome. [55]
The androgen receptor (AR), also known as NR3C4 (nuclear receptor subfamily 3, group C, member 4), is a type of nuclear receptor [9] that is activated by binding any of the androgenic hormones, including testosterone and dihydrotestosterone, [10] in the cytoplasm and then translocating into the nucleus.
Quigley describes the scale as depicting "severity" or "defective masculinization". Grade 1 is indicated when the external genitalia is fully masculinized, and corresponds to mild androgen insensitivity syndrome. Grades 6 and 7 are indicated when the external genitalia is fully feminized, corresponding to complete androgen insensitivity ...
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