Androgen insensitivity syndrome classification: Difference between revisions

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Revision as of 23:02, 3 July 2017

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

Classification

Androgen insensitivity syndrome (AIS) represents a spectrum of defects in androgen action and can be subdivided into three broad phenotypes:

- Complete androgen insensitivity syndrome (CAIS), with typical female external genitalia
- Partial androgen insensitivity syndrome (PAIS) with predominantly female, predominantly male, or ambiguous external genitalia
- Mild androgen insensitivity syndrome (MAIS) with typical male external genitalia

References

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@@ Line 6: / Line 6: @@
 ==Classification==
-Although many distinct [[mutation]]s have been discovered, the clinical manifestations of androgen insensitivity syndrome have been divided into six [[phenotype]]s, 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.
-. '''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 [http://www.ncbi.nlm.nih.gov:80/entrez/dispomim.cgi?id=300068 300068].
+*Androgen insensitivity syndrome (AIS) represents a spectrum of defects in androgen action and can be subdivided into three broad phenotypes:
-. ''' Partial or incomplete AIS''' (PAIS): female body, with slightly virilized genitalia; testes in the abdomen; sparse to normal androgenic hair. Variant of OMIM [http://www.ncbi.nlm.nih.gov:80/entrez/dispomim.cgi?id=300068 300068].
+**Complete androgen insensitivity syndrome (CAIS), with typical female external genitalia
+**Partial androgen insensitivity syndrome (PAIS) with predominantly female, predominantly male, or ambiguous external genitalia
-. '''Reifenstein syndrome''': obviously ambiguous genitalia; small testes may be in abdomen or scrotum; sparse to normal androgenic hair; [[gynecomastia]] at puberty. OMIM [http://www.ncbi.nlm.nih.gov:80/entrez/dispomim.cgi?id=312300 312300].
+**Mild androgen insensitivity syndrome (MAIS) with typical male external genitalia
-. '''Infertile male syndrome''': normal male body internally and externally; normal virilization and androgenic hair; reduced [[Spermatozoon|sperm]] production; reduced fertility. OMIM [http://www.ncbi.nlm.nih.gov:80/entrez/dispomim.cgi?id=308370 308370].
-. '''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 [http://www.ncbi.nlm.nih.gov:80/entrez/dispomim.cgi?id=312300 312300].
-. '''X-linked spinal and bulbar muscular atrophy''': normal or nearly normal male body and fertility; exaggerated adolescent gynecomastia; adult onset degenerative muscle disease. OMIM [http://www.ncbi.nlm.nih.gov:80/entrez/dispomim.cgi?id=313200 313200].
 ==References==

Androgen insensitivity syndrome classification: Difference between revisions

Revision as of 23:02, 3 July 2017

Overview

Classification

References

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