DOI: http://dx.doi.org/10.18203/2320-6012.ijrms20161729

Androgen insensitivity syndrome, a case report and literature review

Venkatreddy Malipatil, Pushpanjlai Malipatil, Chaitanya V. M.

Abstract


A case of androgen insensitivity syndrome who presented with left labial mass and inguinal hernia was managed by surgery and counselling. The aim of this report is to present a rare case of androgen insensitivity syndrome, its cause, diagnosis and treatment along with review of literature and its management. Androgen insensitivity syndrome is a X linked disorder of male sexual differentiation caused by mutation affecting the androgen receptor gene Xq 11-12 resulting in decreased peripheral responsiveness to circulating androgens, with variable phenotypic expression. Over 300 mutations have been identical worldwide. A 8 year old girl presented to surgical outpatient department with pain in the left labial mass. She was investigated and operated. She was confirmed of having androgen insensitivity syndrome after testing for abdominal ultrasound, estimation of antimullerian hormone (AMH) levels, karyotyping and histopathological examination of labial mass. A literature search and update was made on the causes, clinical issues and management of androgen insensitivity syndrome (AIS).


Keywords


AIS, AMH, AR, CAIS, PAIS

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References


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