AR gene mutation is the most frequent cause of 46,XY DSD, with a clearly higher frequency in the complete phenotype. Mutations spread along the whole coding sequence, including exon 1. This series shows that 60% of mutations detected during the period 2002-2009 were novel.
Although not supported by high evidence because of the absence of prospective randomized studies, it appears that in selected patients with large intrarenal stones, RIRS and laser lithotripsy may offer an acceptable efficacy with low morbidity.
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