A rare polypyrimidine tract mutation in the androgen receptor gene results in complete androgen inse

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Dear Editor,rnAndrogen insensitivity syndrome (AIS) is a common 46,XYdisorder of sex development resulting from androgen resistance.AIS can be subdivided into three phenotypes according to the degree of external genital defects:complete AIS (CAIS),with typical female external genitalia;partial AIS,with predominantly male or ambiguous external genitalia;and mild AIS,with typical male external genitalia.CAIS is the classical manifestation of AIS.Individuals affected by CAIS typically exhibit inguinal swellings during infancy or primary amenorrhea during puberty.1 AIS is usually caused by mutations in the androgen receptor (AR) gene.
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