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Novel androgen receptor gene variant containing a frameshift mutation in a patient with complete androgen insensitivity syndrome.

Andrologia - 1 Mar 2022

Chen Guangjie, Zhao Dongyan, Zhu Linfeng, Zhao Yijun, Zhang Jiahua, Wang Xiaohao, Tian Hongjuan, Tang Daxing, Shu Qiang, Qiao Shenglong

Abstract excerpt

A variety of mutations in the androgen receptor (AR) gene are linked to androgen insensitivity syndrome (AIS). AIS is the most common specific cause of 46, XY disorder in sex development. Here, we reported a patient which presented as a female with 46, XY karyotype and normal female external genitalia. The patient was diagnosed with complete AIS caused by a novel mutation (NM_000044, c.2678-2726del, p....

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PMID: 34700362
DOI: 10.1111/and.14292

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