Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Androgen insensitivity syndrome causes
Introduction
Overview
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.
Causes
Causes
- 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.
References
References
- ↑ 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.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aravind Reddy Kothagadi M.B.B.S[2]