Aromatase excess syndrome presenting with prepubertal gynecomastia in an Egyptian child with type 1 neurofibromatosis.

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.

• Authors: Kotb Abbass Metwalley, Hekma Saad Farghaly
• Journal: Indian journal of human genetics (Indian J Hum Genet) Vol. 19 Issue 4 Pg. 472-4 (Oct 2013) ISSN: 0971-6866 [Print] India
• PMID: 24497716 (Publication Type: Case Reports)