Indian Journal of Endocrinology and Metabolism

ORIGINAL ARTICLE
Year
: 2017  |  Volume : 21  |  Issue : 4  |  Page : 520--523

Mutational analysis of androgen receptor gene in two families with androgen insensitivity


Radha Ramadevi Akella 
 Department of Genetics, Rainbow Children's Hospital, Sandor Proteomics Pvt Ltd, Hyderabad, Telangana, India

Correspondence Address:
Radha Ramadevi Akella
Rainbow Children's Hospital, Road No 10, Banjara Hills, Hyderabad - 500 034, Telangana
India

Background: Androgen insensitivity syndrome (AIS) is a rare X-linked disorder due to mutations in the androgen receptor (AR) gene causing end-organ resistance to the androgenic hormone. Subjects and Methods: Genetic studies were carried out in two families by karyotype and targeted exome sequencing of the AR gene. Results: Two novel missense mutations were identified, p.L822P and p.P392S, in two families with complete androgen insensitivity (CAIS) and partial androgen insensitivity (PAIS), respectively. Both had 46, XY karyotype. The mother was a heterozygous carrier in PAIS and negative in CAIS. These two were novel mutations, reported for the first time, in the AR gene. In silico analysis predicted that both mutations were damaging. We reviewed the various reported Indian mutations in the AR gene. Conclusion: AR gene mutations cause a wide spectrum of disorders from CAIS to male infertility or primary amenorrhea. Early diagnosis is essential for gender assignment and further management, family counseling, and prenatal diagnosis.


How to cite this article:
Akella RR. Mutational analysis of androgen receptor gene in two families with androgen insensitivity.Indian J Endocr Metab 2017;21:520-523


How to cite this URL:
Akella RR. Mutational analysis of androgen receptor gene in two families with androgen insensitivity. Indian J Endocr Metab [serial online] 2017 [cited 2021 Jun 18 ];21:520-523
Available from: https://www.ijem.in/article.asp?issn=2230-8210;year=2017;volume=21;issue=4;spage=520;epage=523;aulast=Akella;type=0