A novel compound heterozygous mutation of the aromatase gene in an adult man: a reinforced evidence on the relationships among congenital estrogen deficiency, adiposity and the metabolic syndrome
The fourth case of an adult man affected by aromatase deficiency resulting from a novel homozygous inactivating mutation of the CYP19 (P450arom) gene.The patient presented a complex dysmetabolic syndrome that improved after estrogen replacement treatmen