Aromatase excess syndrome in a Chinese boy due to a novel duplication at 15q21.2
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2018-0266
Abstract: Abstract Background Aromatase excess syndrome (AEXS) is a rare autosomal dominant disorder caused by CYP19A1 overexpression. Clinical manifestations of AEXS include pre- or peri-pubertal gynecomastia, advanced bone age and compromised adult height. Case presentation Here… read more here.
Keywords: novel duplication; duplication; excess syndrome; boy ... See more keywords
Local aromatase excess with recruitment of unusual promoters of CYP19A1 gene in prepubertal patients with gynecomastia
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2021-0757
Abstract: Abstract Objectives Gynecomastia may be due to aromatase excess in several diseases such as obesity and cancer. Aromatase excess syndrome (AEXS) is an autosomal dominant disorder caused by overexpression of CYP19A1. Germinal mutations occurring in… read more here.
Keywords: aromatase overexpression; aromatase excess; cyp19a1; aromatase ... See more keywords