Indian Journal of Human Genetics
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Year : 2013  |  Volume : 19  |  Issue : 4  |  Page : 472-474

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

Department of Pediatrics, Assiut University, Assiut, Egypt

Correspondence Address:
Kotb Abbass Metwalley
Department of Pediatrics, Pediatric Endocrinology Unit, Assiut University, Assiut
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0971-6866.124379

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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.

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