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Indian J Hum Genet ; 2013 Oct-Dec ;19 (4): 472-474
Article in English | IMSEAR | ID: sea-156617

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.


Subject(s)
Aromatase/genetics , Child, Preschool , Egypt/epidemiology , Gynecomastia/epidemiology , Gynecomastia/etiology , Gynecomastia/genetics , Humans , Male , Neurofibromatoses/epidemiology , Neurofibromatoses/genetics
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