• Profile
Close

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.

Go to Original
Only Doctors with an M3 India account can read this article. Sign up for free or login with your existing account.
4 reasons why Doctors love M3 India
  • Exclusive Write-ups & Webinars by KOLs

  • Nonloggedininfinity icon
    Daily Quiz by specialty
  • Nonloggedinlock icon
    Paid Market Research Surveys
  • Case discussions, News & Journals' summaries
Sign-up / Log In
x
M3 app logo
Choose easy access to M3 India from your mobile!


M3 instruc arrow
Add M3 India to your Home screen
Tap  Chrome menu  and select "Add to Home screen" to pin the M3 India App to your Home screen
Okay