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The complete androgen insensitivity syndrome (CAIS) is a rare genetic disorder causing insensitivity to androgens in a person with female phenotype and 46,XY karyotype due to a mutation in the androgen receptor gene located on chromosome X. These children are born with female external genitalia, and females are transmitters.

biomedical papers/biomedical papers of the faculty of medicine of palacký university, olomouc czech republic

Late diagnosis of complete androgen insensitivity syndrome and transmission/carriers of the condition in a family with mutation c.2495G&amp;gt; T p.(Arg832Leu) in exon 7 of the androgen receptor gene: genetic, clinical and ethical aspects