Androgen insensitivity syndrome

Therapeutic area
Endocrinology
Rare disease
Yes

Definition
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).
Genetic basis
Yes
Non-human condition
No
Rare disease
Yes
Listing at source
Listed
Condition name
Androgen insensitivity syndrome
Therapeutic area
Endocrinology

  • androgen insensitivity syndrome
  • AIS
  • Goldberg-Maxwell syndrome
  • Morris syndrome
  • androgen insensitivity syndrome
  • androgen insensitivity, X-linked recessive
  • androgen resistance syndrome
  • testicular feminization syndrome
  • testicular feminization syndrome (formerly)

Severity
Severe

  • Developmental
  • Genetic
  • Hereditary

  • Endocrinology
  • Reproductive Health

MONDO ID
Parent condition
MONDO:0003847

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Trials (27)