Aromatase deficiency in men: a clinical perspective.

[aromatase deficiency]

Human aromatase deficiency is a very rare syndrome characterized by congenital estrogen deprivation that is caused by loss -of-function mutations in CYP 19 A 1 , 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 . Diagnosis of the condition is supported by the presence of unfused epiphyses and undetectable serum estradiol levels ; the condition can be further substantiated by genetic sequencing of CYP 19 A 1 . Transdermal estradiol treatment at a daily dose of about 25 microg might be adequate for lifelong replacement therapy . BMD and levels of serum estradiol , luteinizing hormone and testosterone should be monitored carefully and considered powerful biochemical markers of adequate estrogen substitution in clinical practice . Early diagnosis is important to initiate estrogen therapy as soon after puberty as possible to avoid the skeletal complications that are associated with this condition .

Diseases
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Diseases presenting "skeletal complications" symptom

aromatase deficiency

familial hypocalciuric hypercalcemia

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