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Metwalley KA, Farghaly HS. Aromatase excess syndrome presenting with prepubertal gynecomastia in an Egyptian child with type 1 neurofibromatosis. Indian J Hum Genet. 2013;19(4):472-4doi: 10.4103/0971-6866.124379.
Metwalley, K. A., & Farghaly, H. S. (2013). Aromatase excess syndrome presenting with prepubertal gynecomastia in an Egyptian child with type 1 neurofibromatosis. Indian journal of human genetics, 19(4), 472-4. https://doi.org/10.4103/0971-6866.124379
Metwalley, Kotb Abbass, and Farghaly, Hekma Saad. "Aromatase excess syndrome presenting with prepubertal gynecomastia in an Egyptian child with type 1 neurofibromatosis." Indian journal of human genetics vol. 19,4 (2013): 472-4. doi: https://doi.org/10.4103/0971-6866.124379
Metwalley KA, Farghaly HS. Aromatase excess syndrome presenting with prepubertal gynecomastia in an Egyptian child with type 1 neurofibromatosis. Indian J Hum Genet. 2013 Oct;19(4):472-4. doi: 10.4103/0971-6866.124379. PMID: 24497716; PMCID: PMC3897146.
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Indian J Hum Genet. 2013 Oct;19(4):472-4. doi: 10.4103/0971-6866.124379.

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

Indian journal of human genetics

Kotb Abbass Metwalley, Hekma Saad Farghaly

Affiliations

  1. Department of Pediatrics, Assiut University, Assiut, Egypt.

PMID: 24497716 PMCID: PMC3897146 DOI: 10.4103/0971-6866.124379

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.

Keywords: Aromatase excess syndrome; neurofibromatosis; prepubertal gynecomastia

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