Article
Complete Androgen Insensitivity Syndrome: From Bench to Bed.
International journal of molecular sciences - 27 Jan 2021
Tyutyusheva Nina, Mancini Ilaria, Baroncelli Giampiero Igli, D'Elios Sofia, Peroni Diego, Meriggiola Maria Cristina, Bertelloni Silvano
Abstract excerpt
Complete androgen insensitivity syndrome (CAIS) is due to complete resistance to the action of androgens, determining a female phenotype in persons with a 46,XY karyotype and functioning testes. CAIS is caused by inactivating mutations in the androgen receptor gene (AR). It is organized in eight exons located on the X chromosome. Hundreds of genetic variants in the AR gene have been reported in CAIS. They are...
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