{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T19:16:25Z","timestamp":1762542985658,"version":"3.37.3"},"reference-count":32,"publisher":"Walter de Gruyter GmbH","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,1,28]]},"abstract":"<jats:title>Abstract<\/jats:title>\n<jats:sec id=\"j_jpem-2018-0266_s_999\">\n<jats:title id=\"d757122e8353\">Background<\/jats:title>\n<jats:p>Aromatase excess syndrome (AEXS) is a rare autosomal dominant disorder caused by <jats:italic>CYP19A1<\/jats:italic> overexpression. Clinical manifestations of AEXS include pre- or peri-pubertal gynecomastia, advanced bone age and compromised adult height.<\/jats:p><\/jats:sec>\n<jats:sec id=\"j_jpem-2018-0266_s_998\">\n<jats:title id=\"d757122e8364\">Case presentation<\/jats:title>\n<jats:p>Here we report an 8-year-old boy diagnosed with AEXS by chromosomal array that revealed a 1.1 Mb novel <jats:italic>de novo<\/jats:italic> duplication at 15q21.2, with a predicted final height of 157.4 cm. We prescribed letrozole and growth hormone (GH) to maximize his linear growth. Without further bone age advancement, his height increased from 137.7 cm to 144 cm after an 8-month treatment period.<\/jats:p><\/jats:sec>\n<jats:sec id=\"j_jpem-2018-0266_s_997\">\n<jats:title id=\"d757122e8375\">Conclusions<\/jats:title>\n<jats:p>We identified a novel duplication at 15q21.2 in AEXS, and found that aromatase inhibitor (AI) plus GH might provide a better growth-promoting approach for AEXS patients.<\/jats:p><\/jats:sec>","DOI":"10.1515\/jpem-2018-0266","type":"journal-article","created":{"date-parts":[[2018,12,12]],"date-time":"2018-12-12T09:22:30Z","timestamp":1544606550000},"page":"85-88","source":"Crossref","is-referenced-by-count":8,"title":["Aromatase excess syndrome in a Chinese boy due to a novel duplication at 15q21.2"],"prefix":"10.1515","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0283-1898","authenticated-orcid":false,"given":"Xinrui","family":"Tan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaochuan","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shijun","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xianmei","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xingxing","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref311","doi-asserted-by":"crossref","first-page":"2546","DOI":"10.1093\/annonc\/mdr017","article-title":"Management of aromatase inhibitor-associated bone loss in postmenopausal women with breast cancer: practical guidance for prevention and treatment","volume":"22","year":"2011","journal-title":"Ann Oncol"},{"key":"ref211","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1530\/eje.1.02085","article-title":"Prepubertal gynecomastia in Peutz-Jeghers syndrome: incomplete penetrance in a familial case and management with an aromatase inhibitor","volume":"154","year":"2006","journal-title":"Eur J Endocrinol"},{"key":"ref221","doi-asserted-by":"crossref","first-page":"E2013","DOI":"10.1210\/jc.2013-2520","article-title":"Genomic basis of aromatase excess syndrome: recombination- and replication-mediated rearrangements leading to CYP19A1 overexpression","volume":"98","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"key":"ref241","doi-asserted-by":"crossref","first-page":"E1035","DOI":"10.1210\/jc.2011-0145","article-title":"Aromatase excess syndrome: identification of cryptic 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phenotypic determinants of aromatase excess syndrome","volume":"2012","year":"2012","journal-title":"Int J Endocrinol"},{"key":"ref31","first-page":"E2013","article-title":"Pharmacokinetics and pharmacodynamics of anastrozole in pubertal boys with recent-onset gynecomastia","volume":"98","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"key":"ref181","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1586\/17446651.2014.926810","article-title":"Understanding the pathological manifestations of aromatase excess syndrome: lessons for clinical diagnosis","volume":"9","year":"2014","journal-title":"Expert Rev Endocrinol Metab"},{"key":"ref231","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1159\/000328126","article-title":"Estrogen signaling in growth plate cartilage","volume":"21","year":"2011","journal-title":"Endocr Dev"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1586\/17446651.2014.926810","article-title":"Understanding the 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