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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.
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 exposed to significant amounts of testosterone at some point in their lives. [1]
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; Other names: Partial androgen resistance syndrome; Reifenstein syndrome: AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body. Specialty: Endocrinology
The disorders are invariably fatal before the age of 15, causing kidney failure due to nephrotic syndrome. [38] Estrogen insensitivity syndrome (EIS) – the estrogen counterpart to androgen insensitivity syndrome. Extremely rare, with only one verified case having been reported; a biological male presented with tall stature, a heightened risk ...
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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Androgen deficiency most commonly affects women, and is also called Female androgen insufficiency syndrome (FAIS), although it can happen in both sexes. [ 2 ] [ 3 ] Androgenic activity is mediated by androgens (a class of steroid hormones with varying affinities for the androgen receptor ), and is dependent on various factors including androgen ...