Aromatase deficiency in men: a clinical perspective

  title={Aromatase deficiency in men: a clinical perspective},
  author={Vincenzo Rochira and Cesare Carani},
  journal={Nature Reviews Endocrinology},
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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Recognizing rare disorders: aromatase deficiency
Aromatase deficiency is rare in humans and affected individuals cannot synthesize endogenous estrogens, and affected males and females are diagnosed much later in life, presenting with clinical symptoms, which include tall stature, delayed skeletal maturation, delayed epiphyseal closure, bone pain, eunuchoid body proportions and excess adiposity.
Impact of estrogen replacement therapy in a male with congenital aromatase deficiency caused by a novel mutation in the CYP19 gene.
In this rare incidence of estrogen deficiency, estrogen replacement demonstrated its importance for bone mineralization and maturation and glucose metabolism in a male carrying a novel mutation in the CYP19 gene.
Human models of aromatase deficiency
Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens.
A novel mutation in the CYP19 gene in a sister and brother exhibited the cardinal features of the aromatase deficiency syndrome as recently defined and was reported on.
Dysmetabolic syndrome in a man with a novel mutation of the aromatase gene: effects of testosterone, alendronate, and estradiol treatment.
This new case of aromatase deficiency confirms previous data on bone maturation and mineralization, and reveals a high risk for the precocious development of cardiovascular disease in young aromat enzyme-deficient men.
Variable phenotypes associated with aromatase (CYP19) insufficiency in humans.
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Aromatase deficiency caused by a novel P450arom gene mutation: impact of absent estrogen production on serum gonadotropin concentration in a boy.
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Effect of testosterone and estradiol in a man with aromatase deficiency.
The responses to androgen and estrogen in a man with a novel, homozygous inactivating mutation of cytochrome P-450 aromatase suggest a crucial role of estrogen in skeletal maturation.