IMR Press / FBE / Volume 5 / Issue 2 / DOI: 10.2741/E658

Frontiers in Bioscience-Elite (FBE) is published by IMR Press from Volume 13 Issue 2 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with Frontiers in Bioscience.

Open Access Review

Androgen insensitivity syndrome: ten years of our experience

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1 Division of Human Genetics, St. John’s Medical College, Bangalore, India
2 Central Drug Research Institute (Council of Scientific and Industrial Research), Lucknow, India
3 Vellore Institute of Technology, Vellore University, Vellore, India
4 Center of Cellular and Molecular Biology (Council of Scientific and Industrial Research), Hyderabad, India

*Author to whom correspondence should be addressed.

Academic Editor: Rajender Singh

Front. Biosci. (Elite Ed) 2013, 5(2), 779–784; https://doi.org/10.2741/E658
Published: 1 January 2013
(This article belongs to the Special Issue Male reproductive health and its management)
Abstract

Abnormalities of secondary sexual differentiation manifest in varying degrees depending upon the severity of the underlying cause. Primary amenorrhea in phenotypic females is caused by several different factors, including hormonal imbalance, nutritional deficiency and sex differentiation abnormalities. Androgen insensitivity syndrome (AIS) accounts for a large proportion of such cases in phenotypic females but genetically male individuals. Over the past 10 years, we have collected data related to androgen insensitivity from more than 150 cases. The research identified several important but neglected facts about this syndrome; including the identification of mutations in 39% of the cases and the establishment of the cause of pathogenesis in 60% of them. The most intriguing facts were uncovered in relation to late presentation of the AIS cases, little awareness among patients and family members, no consensus on the age of performing gonadectomy, and reluctance of the patients to undergo recommended surgery. These issues need immediate attention to improve healthcare and management of AIS cases. This article summarizes our observations about AIS with an aim to spread awareness among patients and clinicians.

Keywords
Androgen Receptor
Androgen Insensitivity Syndrome
Sex Reversal
CAIS
Review
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