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Androgen insensitivity syndrome
Disease definition
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).
A summary on this disease is available in Deutsch (2011) Español (2011) Français (2011) Italiano (2011) Nederlands (2011) Português (2011) Greek (2011, pdf)
Detailed information
General public
- Article for general public
- English (2014) - Socialstyrelsen
- Svenska (2018) - Socialstyrelsen
Guidelines
- Clinical practice guidelines
- Español (2013, pdf) - GT-CSGP
- Deutsch (2016) - AWMF
- Français (2017) - PNDS
- English (2018) - Nat Rev Endocrinol
Disease review articles
- Review article
- English (2012) - Lancet
- Clinical genetics review
- English (2017) - GeneReviews


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.