Androgen insensitivity syndrome classification
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Classification
Although many distinct mutations have been discovered, the clinical manifestations of androgen insensitivity syndrome have been divided into six phenotypes, which roughly correspond to increasing amounts of androgen effect due to increasing tissue responsiveness. It should be emphasized that the disorders of androgen sensitivity represent a spectrum rather than 6 discrete diseases, and some affected persons will have features that fall between the phenotypes described.
1. Complete AIS (CAIS): completely female body except no uterus, fallopian tubes or ovaries; testes in the abdomen; minimal androgenic (pubic or axillary) hair at puberty. OMIM 300068.
2. Partial or incomplete AIS (PAIS): female body, with slightly virilized genitalia; testes in the abdomen; sparse to normal androgenic hair. Variant of OMIM 300068.
3. Reifenstein syndrome: obviously ambiguous genitalia; small testes may be in abdomen or scrotum; sparse to normal androgenic hair; gynecomastia at puberty. OMIM 312300.
4. Infertile male syndrome: normal male body internally and externally; normal virilization and androgenic hair; reduced sperm production; reduced fertility. OMIM 308370.
5. Undervirilized fertile male syndrome: male internal and external genitalia with small penis; testes in scrotum; normal androgenic hair; sperm count and fertility normal or reduced. Variant of OMIM 312300.
6. X-linked spinal and bulbar muscular atrophy: normal or nearly normal male body and fertility; exaggerated adolescent gynecomastia; adult onset degenerative muscle disease. OMIM 313200.