Androgen insensitivity syndrome causes

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aravind Reddy Kothagadi M.B.B.S [2]

Overview

Androgen insensitivity syndrome is due to mutations in the X-linked androgen receptor gene. Androgen receptor (AR) gene defects inhibit the normal development of both internal and external genital structures in 46XY individuals, causing a variety of phenotypes ranging from male infertility to completely normal female external genitalia.

Androgen insensitivity syndrome is due to mutations in the X-linked androgen receptor (AR ) gene, which encodes for the ligand-activated androgen receptor – a transcription factor.^[1]
Defects in the androgen receptor (AR ) gene prevent the normal development of both internal and external genital structures in 46XY individuals, causing a variety of phenotypes ranging from male infertility to completely normal female external genitalia. ^[2]
There have been more than 800 mutations in the androgen receptor (AR ) gene reported in AIS patients. ^[3]
AIS phenotype majorly depends on the degree of residual androgen receptor (AR) activity.
Most severe mutations are generally associated with a CAIS phenotype.

↑ Hughes IA, Davies JD, Bunch TI, Pasterski V, Mastroyannopoulou K, MacDougall J (2012). “Androgen insensitivity syndrome”. Lancet. 380 (9851): 1419–28. doi:10.1016/S0140-6736(12)60071-3. PMID 22698698.
↑ Galani A, Kitsiou-Tzeli S, Sofokleous C, Kanavakis E, Kalpini-Mavrou A (2008). “Androgen insensitivity syndrome: clinical features and molecular defects”. Hormones (Athens). 7 (3): 217–29. PMID 18694860.
↑ Hughes IA, Werner R, Bunch T, Hiort O (2012). “Androgen insensitivity syndrome”. Semin Reprod Med. 30 (5): 432–42. doi:10.1055/s-0032-1324728. PMID 23044881.