Androgen insensitivity syndrome: ten years of our experience.
نویسندگان
چکیده
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.
منابع مشابه
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We appreciate Balsamo and colleagues’ interest [1] in our recent paper [2] about a case of complete androgen insensitivity syndrome (CAIS). We are grateful for their insightful comments and the opportunity to clarify a number of elements from our work. Since many of the opinions expressed in their letter are based on biased interpretation of data, we would like to point-to-point answer their qu...
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ورودعنوان ژورنال:
- Frontiers in bioscience
دوره 5 شماره
صفحات -
تاریخ انتشار 2013