54 citations
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February 2010 in “British Journal of Dermatology” This case report describes a patient with complete androgen insensitivity syndrome experiencing female pattern hair loss, suggesting that factors beyond direct androgen action may contribute to this condition in women.
32 citations
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November 2020 in “UNC Libraries” This study identified a mutation in the steroid-binding domain of the androgen receptor gene associated with complete androgen insensitivity syndrome, impairing male sexual development due to altered androgen receptor protein function.
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.
October 2023 in “IJEM case reports” This case report describes the diagnosis and management of a 15-year-old girl with complete androgen insensitivity syndrome, highlighting the importance of thorough physical exams for early detection and treatment planning.
April 2019 in “Journal of the Endocrine Society” This case study highlights the late diagnosis of complete androgen insensitivity syndrome in a 31-year-old woman, emphasizing the psychological impact and need for individualized treatment guidelines.