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.
Obesity-associated hypogonadism is very prevalent in males with morbid obesity and is mostly reversed after sustained weight loss by bariatric surgery.
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