Aromatase excess syndrome presenting with prepubertal gynecomastia in an Egyptian child with type 1 neurofibromatosis.
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Date
2013-10
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Abstract
A romatase excess syndrome (AEXS) is a rare autosomal
dominant disorder characterized by prepubertal
gynecomastia, it responds well to medical treatment. In
the absence of prompt suspicion, it can expose the patient
to the risk of unnecessary surgical intervention. Up to
our best knowledge, the association between AEXS and
neurofibromatosis type 1 (NF1) was not reported before.
Here, we describe a AEXS presenting with prepubertal
gynecomastia in an Egyptian child with NF1 that improved
with aromatase inhibitors.
Description
Keywords
Aromatase excess syndrome, neurofibromatosis, prepubertal gynecomastia
Citation
Metwalley Kotb Abbass, Farghaly Hekma Saad. Aromatase excess syndrome presenting with prepubertal gynecomastia in an Egyptian child with type 1 neurofibromatosis. Indian Journal of Human Genetics. 2013 Oct-Dec ;19 (4): 472-474.