Assessment of androgen receptor function in genital skin fibroblasts using a recombinant adenovirus to deliver an androgen-responsive reporter gene

The Journal of Clinical Endocrinology and Metabolism
M J McPhaulD R Allman

Abstract

Mutations of the androgen receptor (AR) cause defects in virilization and can result in a spectrum of phenotypic abnormalities of male sexual development that includes patients with a completely female phenotype (complete testicular feminization) and individuals with less severe defects of virilization, such as Reifenstein syndrome. These phenotypes are not specific for mutations of the AR gene, however, and defects in other genes can also result in similar abnormalities of male development. For this reason, the diagnosis of an AR defect is laborious and requires data from endocrine studies, the family history, and in vitro binding experiments. To assist in the evaluation of patients with possible AR defects, we previously employed the use of a recombinant adenovirus to deliver an androgen-responsive gene into fibroblast cultures to assay AR function in normal subjects and patients with complete forms of androgen resistance. Although these studies demonstrated measurable differences between these two groups of subjects, we did not assay samples from patients with partial defects of androgen action. In the current study, we have modified this method to examine AR function in three groups of patients with known or suspected defec...Continue Reading

References

Nov 1, 1992·The Journal of Clinical Investigation·M J McPhaulJ D Wilson
Sep 1, 1982·The Journal of Clinical Endocrinology and Metabolism·J E Griffin, J L Durrant
Sep 1, 1996·The Journal of Steroid Biochemistry and Molecular Biology·T GaoM J McPhaul
Sep 1, 1958·American Journal of Surgery·R N SHAPIROG O'BRIEN
Jan 1, 1951·Acta Genetica Et Statistica Medica·J A BOOK

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Citations

Aug 26, 2006·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Jan-Hendrik BebermeierPaul-Martin Holterhus
Jan 5, 2002·Breast Cancer Research and Treatment·Y A ElhajiM A Trifiro

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