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Detecting the Ligand-binding Domain Dimerization Activity of Estrogen Receptor Alpha Using the Mammalian Two-Hybrid Assay
Published on: December 19, 2018
Partial androgen insensitivity syndrome with thermolability in the androgen receptor
Kenji Hiraoka1, Akihiro Kawauchi, Jintetsu Soh
1Department of Urology, Graduate School of Medical Science, Kyoto Prefectural Medical University of Medicine, Kyoto, Japan.
Abstract:
We report case of partial androgen insensitivity syndrome in a 12-year-old boy referred to our clinic complaining of bilateral gynecomastia and left undescended testicle. Laparoscopy for undescended testicle and bilateral mastectomy were performed, and the left testicle was absent. When skin fibroblasts of the scrotum obtained during surgery were cultured to analyse the androgen receptors, a slight thermolability was observed. Genomic examination of the androgen receptor gene could not detect any mutations.
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