Volume : IV, Issue : IX, September - 2014

Case Report : Androgen insensitivity syndrome

Dr Sneha Ashishtrivedi

Abstract :

Androgen insensitivity syndrome or testicular feminization syndrome, is a rare X–linked recessive disorder with an incidence of 1:20,000–64,000 male births, encompasses a male genotype (46XY) with phenotypes ranging from male infertility to variable ambiguity of genitalia to completely normal female external genitalia, that are caused by numerous (>400) different mutations in the androgen receptor (AR) gene located at Xq11–12, with a resulting decrease in binding of androgen to the receptor. We report a case in which a 26 yrs old female presented with primary amenorrhoea . She had right sided inguinal hernia repair with probably right gonadectomy in infancy. Subsequent investigations were done which revealed absence of female internal genitalia, a male karyotype and presence of left testes. Left gonadectomy was performed and she was started with hormone replacement therapy.

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Article: Download PDF   DOI : 10.36106/ijar  

Cite This Article:

Dr Sneha AshishTrivedi Case Report : Androgen insensitivity syndrome Indian Journal of Applied Research, Vol.4, Issue.9 September 2014

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