International Journal of Research in Health Sciences,2015,3,1,126-129.
A 16 year old phenotypic female presented with primary amenorrhea and on investigation was found to have no uterus, tubes or ovaries, instead intra-abdominal tests were found. Further investigation revealed high levels of LH and Testosterone and 46, XY karyotype, suggestive of genotypic male with Complete Androgen Insensitivity Syndrome. We present this case, taking this opportunity to discuss the presentation and pathophysiology of the condition and recommend guidelines for early diagnosis and optimal care of the individuals.
Keywords:Androgen Insensitivity Syndrome (AIS), Androgen receptor defect, Androgen resistance, Complete Androgen Insensitivity Syndrome (CAIS), Testicular Feminization
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