一名患有1型神经纤维瘤病的埃及儿童出现青春期前男性乳房发育，诊断为芳香化酶过多综合征。
Aromatase excess syndrome presenting with prepubertal gynecomastia in an Egyptian child with type 1 neurofibromatosis.
作者信息
Metwalley Kotb Abbass, Farghaly Hekma Saad
机构信息
Department of Pediatrics, Assiut University, Assiut, Egypt.
出版信息
Indian J Hum Genet. 2013 Oct;19(4):472-4. 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.
摘要
芳香化酶过剩综合征（AEXS）是一种罕见的常染色体显性疾病，其特征为青春期前乳腺增生，对药物治疗反应良好。若未及时怀疑该病，可能会使患者面临不必要的手术干预风险。据我们所知，此前尚未报道过AEXS与1型神经纤维瘤病（NF1）之间的关联。在此，我们描述了一名患有NF1的埃及儿童出现青春期前乳腺增生的AEXS病例，该病例使用芳香化酶抑制剂后病情有所改善。
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