Complete androgen insensitivity caused by a new frameshift deletion of twobase pairs in exon 1 of the human androgen receptor gene

We describe a novel mutation in exon 1 of the androgen receptor gene in a p atient with complete androgen insensitivity (CAIS). Endocrine findings were typical for androgen insensitivity (testosterone serum levels in the upper limit of normal males and increased LH serum concentrations). Biochemical investigations in cultured genital skin fibroblasts of the patient showed a normal Ba-reductase activity but a complete absence of androgen binding. W estern blot analysis revealed no detectable protein product. Sequence analy sis of the entire coding region of the androgen receptor gene resulted in t he identification of a 2-bp deletion in codon 472, causing frameshift and i ntroduction of a premature stop codon 27 codons downstream of the mutation.