Aromatase excess syndrome: a rare autosomal dominant disorder leading to pre- or peri-pubertal onset gynecomastia.

[aromatase deficiency]

Overexpression of CYP 19 A 1 encoding aromatase results in a rare genetic disorder referred to as aromatase excess syndrome (AEXS ). Male patients with AEXS manifest pre- or peri-pubertal onset gynecomastia , gonadotropin deficiency , and advanced bone age , while female patients are mostly asymptomatic . To date , 30 male patients with molecularly confirmed AEXS have been reported . A total of 12 types of submicroscopic rearrangements , i .e ., two simple duplications , four simple deletions , two simple inversions , and four complex rearrangements , have been implicated in AEXS . Clinical severity of AEXS primarily depends on the types of the rearrangements . AEXS appears to account for a small number of cases of pre- or peri-pubertal onset gynecomastia , and should be suspected particularly when gynecomastia is associated with an autosomal dominant inheritance pattern , characteristic hormone abnormalities and /or advanced bone age . Treatment with an aromatase inhibitor appears to benefit patients with AEXS , although long -term safety of this class of drugs remains unknown .

Diseases
Validation

Diseases presenting "bone age" symptom

achondroplasia

aromatase deficiency

congenital adrenal hyperplasia

cushing syndrome

kabuki syndrome

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