Aromatase deficiency in men: a clinical perspective

@article{Rochira2009AromataseDI,
  title={Aromatase deficiency in men: a clinical perspective},
  author={Vincenzo Rochira and Cesare Carani},
  journal={Nature Reviews Endocrinology},
  year={2009},
  volume={5},
  pages={559-568}
}
Human aromatase deficiency is a very rare syndrome characterized by congenital estrogen deprivation that is caused by loss-of-function mutations in CYP19A1, which encodes aromatase. Here, we review the presentation, diagnosis and treatment of aromatase deficiency in men to provide useful advice for clinical management of the condition. At presentation, all men with aromatase deficiency have tall stature, delayed bone maturation, osteopenia or osteoporosis and eunuchoid skeletal proportions… 
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