Case Report: a Novel Nonsense Mutation in the Androgen Receptor Gene Causing the Complete Androgen Insensitivity Syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Obstetrics and Gynecology
Link
https://link.springer.com/content/pdf/10.1007/s43032-022-00944-9.pdf
Reference18 articles.
1. Terro JJ, El-Helou E, Jammoul K, El Lakkis R, Shibli A, El-Chamaa B, Al-Shami J, Naccour J, Damaj N, Abtar HK. Bilateral inguinal masses or hernias in a female teenager with delayed menarche: think of complete androgen insensitivity syndrome (CAIS), a case report. Int J Surg Case Rep. 2020;76:25–9.
2. Lanciotti L, Cofini M, Leonardi A, Bertozzi M, Penta L, Esposito S. Different clinical presentations and management in complete androgen insensitivity syndrome (CAIS). Int J Environ Res Public Health. 2019;16(1268):1–20.
3. Yuan SM, Huang H, Tu CF, Du J, Xu DB, Lin G, Lu GX, Tan YQ. A rare polypyrimidine tract mutation in the androgen receptor gene results in complete androgen insensitivity syndrome. Asian J Androl. 2018;20(3):308–10.
4. Malcher A, Jedrzejczak P, Stokowy T, Monem S, Nowicka-Bauer K, Zimna A, Czyzyk A, Maciejewska-Jeske M, Meczekalski B, Bednarek-Rajewska K et al. Novel mutations segregating with complete androgen insensitivity syndrome and their molecular characteristics. Int J Mol Sci. 2019;20(5418):1–16.
5. Mongan NP, Tadokoro-Cuccaro R, Bunch T, Hughes IA. Androgen insensitivity syndrome. Best Pract Res Clin Endocrinol Metab. 2015;29(4):569–80.
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