23 citations
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January 2014 in “International Journal of Biological Sciences” This study found that African American men with prostate cancer have higher rates of somatic and germline androgen receptor mutations than Caucasian American men, which may contribute to ethnic differences in disease progression and outcomes.
3 citations
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January 2008 in “Endocrine journal” In this case report, the authors describe a partial androgen insensitivity syndrome patient with a novel AR gene mutation, highlighting challenges in gender assignment decisions for infants with partial AIS.
4 citations
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May 2021 in “The American Journal of Surgical Pathology” This study suggests that cutaneous lymphadenoma is a distinct benign lymphoepithelial tumor characterized by androgen receptor expression, hair follicle stem cell markers, and common EGFR gene mutations.
1 citations
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August 2015 in “AACE Clinical Case Reports” This case report identifies a novel AR gene mutation in an adolescent with primary amenorrhea, suggesting that CAIS should be considered when evaluating patients with a female phenotype and breast development.
78 citations
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August 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study reports that the same androgen receptor gene mutation within a family can lead to both complete and partial androgen insensitivity syndromes, suggesting that genetic defects alone may not predict clinical phenotype.