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Article

Different Clinical Presentations and Management in Complete Androgen Insensitivity Syndrome (CAIS)

9 Apr 2019

Abstract excerpt

Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive genetic disorder resulting from maternally inherited or de novo mutations involving the androgen receptor gene, situated in the Xq11-q12 region. The diagnosis is based on the presence of female external genitalia in a 46, XY human individual, with normally developed but undescended testes and complete unresponsiveness of target tissues to...

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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PMID: 30970592
DOI: 10.3390/ijerph16071268

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