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Androgen insensitivity syndrome

rare

Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS).

Identifiers
MONDO:0019154 OMIM:300068Orphanet:754
Causal genes
AR
Part of
46 XY differences of sex developmentHereditary disease
Also known as
androgen insensitivity, X-linked recessive · androgen resistance syndrome · Goldberg-Maxwell syndrome · Morris syndrome · testicular feminization syndrome

Subtypes

All diseases Rare only
Disease Subtypes
Complete androgen insensitivity syndrome
Partial androgen insensitivity syndrome

Rare disease

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