Mild androgen insensitivity syndrome

Mild androgen insensitivity syndrome
Mild androgen insensitivity syndrome
Other names	Undervirilized male 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

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. Female genital and sexual development is not significantly affected by the insensitivity to androgens;^[3]^[4] as such, MAIS is only diagnosed in males.^[1] The clinical phenotype associated with MAIS is a normal male habitus with mild spermatogenic defect and / or reduced secondary terminal hair.^[1]^[5]^[6]^[7]^[8]^[9]

MAIS is one of three types of androgen insensitivity syndrome, which is divided into three categories that are differentiated by the degree of genital masculinization: complete androgen insensitivity syndrome (CAIS) is indicated when the external genitalia is phenotypically female, mild androgen insensitivity syndrome (MAIS) is indicated when the external genitalia is phenotypically male, and partial androgen insensitivity syndrome (PAIS) is indicated when the external genitalia is partially, but not fully masculinized.^[1]^[2]^[5]^[6]^[7]^[10]^[11]^[12]^[13]

Androgen insensitivity syndrome is the largest single entity that leads to 46,XY undermasculinization.^[14]

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