Clinical characteristics and molecular genetics of complete androgen insensitivity syndrome patients: A series study of 30 cases from a Chinese tertiary medical center
Fertility and Sterility Feb 18, 2021
Zhang D, Yao F, Tian T, et al. - Researchers aimed at determining the clinical and molecular characteristics of complete androgen insensitivity syndrome (CAIS) patients from the People’s Republic of China. Thirty patients from unrelated families were recruited and underwent sequencing of genomic DNA from peripheral blood for mutation in the androgen receptor (AR) gene and steroid 5α-reductase type 2 gene (SRD5A2). Mutations in AR exons were identified in 21 patients diagnosed with CAIS. The presence of seven novel mutations was identified on analyzing AR exons (c.58C>T, c.645_652delGGGGGCTC, c.910G>T, c.1078C>T, c.1786T>A, c.2230G>T, and c.2522G>C); the ligand-binding domain was the location of 47.6% of these mutations (10/21). Overall findings broaden the spectrum of known AR gene mutations responsible for CAIS, and suggest that there can be more complex underlying causes of CAIS.
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