Androgen insensitivity syndrome

Androgen insensitivity 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.
Classification and external resources
Specialty	Endocrinology
ICD-10	E34.5
ICD-9-CM	259.5
OMIM	312300 300068
DiseasesDB	29662 12975
MedlinePlus	001180
eMedicine	ped/2222
MeSH	D013734
GeneReviews	Androgen insensitivity syndrome
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Androgen insensitivity syndrome (AIS) is an intersex condition that results in the partial or complete inability of the cell to respond to androgens. The unresponsiveness of the cell to the presence of androgenic hormones can impair or prevent the masculinization of male genitalia in the developing fetus, as well as the development of male secondary sexual characteristics at puberty, but does not significantly impair female genital or sexual development. As such, the insensitivity to androgens is clinically significant only when it occurs in genetic males (i.e. individuals with a Y-chromosome, or more specifically, an SRY gene). Clinical phenotypes in these individuals range from a normal male habitus with mild spermatogenic defect or reduced secondary terminal hair, to a full female habitus, despite the presence of a Y-chromosome.

AIS 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 are that of a normal female; mild androgen insensitivity syndrome (MAIS) is indicated when the external genitalia are that of a normal male, and partial androgen insensitivity syndrome (PAIS) is indicated when the external genitalia are partially, but not fully, masculinized.

Androgen insensitivity syndrome is the largest single entity that leads to 46,XY undermasculinized genitalia.

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