A Novel Androgen Receptor Mutation Resulting in Complete Androgen Insensitivity Syndrome and Bilateral Leydig Cell Hyperplasia
β Scribed by Singh, R.
- Book ID
- 119989931
- Publisher
- American Society of Andrology
- Year
- 2006
- Tongue
- English
- Weight
- 973 KB
- Volume
- 27
- Category
- Article
- ISSN
- 1939-4640
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π SIMILAR VOLUMES
## Communicated by Bruce Gottlieb We have identified androgen receptor (AR) gene mutations in eight Australian subjects with complete androgen insensitivity syndrome (AIS). Four individuals, from three families, have novel mutations that introduce premature termination codons. Two siblings have th
Mutations in the androgen receptor (AR) gene result in androgen insensitivity syndrome (AIS). We have identified five novel mutations that result in a complete loss in AR function and are associated with complete AIS. The mutations span all three AR major functional domains. In two cases, the loss o