Article
Molecular features and clinical phenotypes in androgen insensitivity syndrome in the absence and presence of androgen receptor gene mutations.
Journal of molecular medicine (Berlin, Germany) - 1 Dec 2005
Holterhus P M, Werner R, Hoppe U, Bassler J, Korsch E, Ranke M B, Dörr H G, Hiort O
Abstract excerpt
Androgen insensitivity syndrome (AIS) is characterized by deficient or absent virilization in 46,XY individuals despite normal or even elevated androgen levels. AIS is usually caused by mutations in the androgen receptor (AR) gene. We aimed at contrasting clinical, biochemical, and molecular genetic characteristics of three patients (P1-P3) with clinically evident partial (P1) and complete (P2, P3) AIS with and...
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