{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,14]],"date-time":"2026-11-14T10:05:08Z","timestamp":1794650708791,"version":"4.9.1"},"reference-count":66,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","award":["2019A-1"],"award-info":[{"award-number":["2019A-1"]}],"id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","award":["17H06428"],"award-info":[{"award-number":["17H06428"]}],"id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007786","name":"National Center for Child Health and Development","doi-asserted-by":"publisher","award":["2019A-1"],"award-info":[{"award-number":["2019A-1"]}],"id":[{"id":"10.13039\/100007786","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007786","name":"National Center for Child Health and Development","doi-asserted-by":"publisher","award":["17H06428"],"award-info":[{"award-number":["17H06428"]}],"id":[{"id":"10.13039\/100007786","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["2019A-1"],"award-info":[{"award-number":["2019A-1"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["17H06428"],"award-info":[{"award-number":["17H06428"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Best Practice &amp; Research Clinical Endocrinology &amp; Metabolism"],"published-print":{"date-parts":[[2022,1]]},"DOI":"10.1016\/j.beem.2021.101580","type":"journal-article","created":{"date-parts":[[2021,9,13]],"date-time":"2021-09-13T11:37:22Z","timestamp":1631533042000},"page":"101580","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":28,"title":["Congenital disorders of estrogen biosynthesis and action"],"prefix":"10.1016","volume":"36","author":[{"given":"Maki","family":"Fukami","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsutomu","family":"Ogata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.beem.2021.101580_bib1","series-title":"Williams textbook of endocrinology","first-page":"1023","article-title":"Physiology and disorders of puberty","author":"Styne","year":"2019"},{"key":"10.1016\/j.beem.2021.101580_bib2","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/bs.apcsb.2019.01.001","article-title":"Estrogen receptor signaling mechanisms","volume":"116","author":"Fuentes","year":"2019","journal-title":"Advances in Protein Chemistry and Structural Biology"},{"key":"10.1016\/j.beem.2021.101580_bib3","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1152\/physrev.00018.2016","article-title":"Estrogens in male physiology","volume":"97","author":"Cooke","year":"2017","journal-title":"Physiol Rev"},{"key":"10.1016\/j.beem.2021.101580_bib4","doi-asserted-by":"crossref","first-page":"72","DOI":"10.3389\/fendo.2020.00072","article-title":"Estrogens in human male gonadotropin secretion and testicular physiology from infancy to late puberty","volume":"11","author":"Guercio","year":"2020","journal-title":"Front Endocrinol"},{"key":"10.1016\/j.beem.2021.101580_bib5","doi-asserted-by":"crossref","first-page":"1818","DOI":"10.1172\/JCI125755","article-title":"Impact of estrogens in males and androgens in females","volume":"129","author":"Hammes","year":"2019","journal-title":"J\u00a0Clin Invest"},{"key":"10.1016\/j.beem.2021.101580_bib6","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1210\/er.2010-0013","article-title":"The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders","volume":"32","author":"Miller","year":"2011","journal-title":"Endocr Rev"},{"key":"10.1016\/j.beem.2021.101580_bib7","doi-asserted-by":"crossref","first-page":"4589","DOI":"10.1210\/endo.142.11.8547","article-title":"Minireview: aromatase and the regulation of estrogen biosynthesis--some new perspectives","volume":"142","author":"Simpson","year":"2001","journal-title":"Endocrinology"},{"key":"10.1016\/j.beem.2021.101580_bib8","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1055\/s-2004-823022","article-title":"Organization of the human aromatase p450 (CYP19) gene","volume":"22","author":"Bulun","year":"2004","journal-title":"Semin Reprod Med"},{"key":"10.1016\/j.beem.2021.101580_bib9","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1210\/jcem-72-3-560","article-title":"A\u00a0new cause of female pseudohermaphroditism: placental aromatase deficiency","volume":"72","author":"Shozu","year":"1991","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2021.101580_bib10","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.mce.2016.05.025","article-title":"Aromatase deficiency: a novel compound heterozygous mutation identified in a Chinese girl with severe phenotype and obvious maternal virilization","volume":"433","author":"Zhu","year":"2016","journal-title":"Mol Cell Endocrinol"},{"key":"10.1016\/j.beem.2021.101580_bib11","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/j.fertnstert.2013.12.022","article-title":"Aromatase deficiency","volume":"101","author":"Bulun","year":"2014","journal-title":"Fertil Steril"},{"key":"10.1016\/j.beem.2021.101580_bib12","doi-asserted-by":"crossref","first-page":"349","DOI":"10.3109\/09513590.2014.995619","article-title":"Ovarian and uterine development and hormonal feedback mechanism in a 46 XX patient with CYP19A1 deficiency under low dose estrogen replacement","volume":"31","author":"Burckhardt","year":"2015","journal-title":"Gynecol Endocrinol"},{"key":"10.1016\/j.beem.2021.101580_bib13","doi-asserted-by":"crossref","first-page":"205","DOI":"10.4274\/jcrpe.2761","article-title":"A\u00a0novel null mutation in P450 aromatase gene (CYP19A1) associated with development of hypoplastic ovaries in humans","volume":"8","author":"Ak\u00e7urin","year":"2016","journal-title":"Journal of Clinical Research in Pediatric Endocrinology"},{"key":"10.1016\/j.beem.2021.101580_bib14","doi-asserted-by":"crossref","first-page":"196","DOI":"10.4274\/jcrpe.galenos.2018.2018.0140","article-title":"A\u00a0novel homozygous CYP19A1 gene mutation: aromatase deficiency mimicking congenital adrenal hyperplasia in an infant without obvious maternal virilisation","volume":"11","author":"Dursun","year":"2019","journal-title":"Journal of Clinical Research in Pediatric Endocrinology"},{"key":"10.1016\/j.beem.2021.101580_bib15","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1159\/000492128","article-title":"Accelerated pubertal tempo in a 46,XY aromatase\u2013deficient patient","volume":"90","author":"Costanzo","year":"2018","journal-title":"Hormone Research in Paediatrics"},{"key":"10.1016\/j.beem.2021.101580_bib16","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.bone.2016.09.024","article-title":"Aromatase deficiency in a male patient \u2013 case report and review of the literature","volume":"93","author":"Miedlich","year":"2016","journal-title":"Bone"},{"key":"10.1016\/j.beem.2021.101580_bib17","doi-asserted-by":"crossref","first-page":"E301","DOI":"10.1210\/jc.2014-2967","article-title":"Five new cases of 46,XX aromatase deficiency: clinical follow\u2013up from birth to puberty, a novel mutation, and a founder effect","volume":"100","author":"Marino","year":"2015","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2021.101580_bib18","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1038\/nrendo.2009.176","article-title":"Aromatase deficiency in men: a clinical perspective","volume":"5","author":"Rochira","year":"2009","journal-title":"Nat Rev Endocrinol"},{"key":"10.1016\/j.beem.2021.101580_bib19","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1016\/j.mce.2014.09.016","article-title":"Aromatase deficiency in a Chinese adult man caused by novel compound heterozygous CYP19A1 mutations: effects of estrogen replacement therapy on the bone, lipid, liver and glucose metabolism","volume":"399","author":"Chen","year":"2015","journal-title":"Mol Cell Endocrinol"},{"key":"10.1016\/j.beem.2021.101580_bib20","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/j.mce.2014.03.008","article-title":"Characterization of a novel CYP19A1 (aromatase) R192H mutation causing virilization of a 46,XX newborn, undervirilization of the 46,XY brother, but no virilization of the mother during pregnancies","volume":"390","author":"Bouchoucha","year":"2014","journal-title":"Mol Cell Endocrinol"},{"key":"10.1016\/j.beem.2021.101580_bib21","article-title":"Aromatase deficiency in two siblings with 46, XX karyotype raised as different genders: a novel mutation (p.R115X) in CYP19A1 gene","author":"Ozen","year":"2019","journal-title":"Journal of Clinical Research in Pediatric Endocrinology"},{"key":"10.1016\/j.beem.2021.101580_bib22","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1111\/j.1365-2265.2007.02864.x","article-title":"A\u00a0novel compound heterozygous mutation of the aromatase gene in an adult man: reinforced evidence on the relationship between congenital oestrogen deficiency, adiposity and the metabolic syndrome","volume":"67","author":"Maffei","year":"2007","journal-title":"Clin Endocrinol"},{"key":"10.1016\/j.beem.2021.101580_bib23","doi-asserted-by":"crossref","first-page":"982","DOI":"10.1210\/jc.2006-1181","article-title":"Variable phenotypes associated with aromatase (CYP19) insufficiency in humans","volume":"92","author":"Lin","year":"2007","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2021.101580_bib24","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1159\/000249159","article-title":"Genetic and clinical spectrum of aromatase deficiency in infancy, childhood and adolescence","volume":"72","author":"Belgorosky","year":"2009","journal-title":"Hormone Research in Paediatrics"},{"key":"10.1016\/j.beem.2021.101580_bib25","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/1472-6823-14-16","article-title":"A\u00a0case of aromatase deficiency due to a novel CYP19A1 mutation","volume":"14","author":"Gagliardi","year":"2014","journal-title":"BMC Endocr Disord"},{"key":"10.1016\/j.beem.2021.101580_bib26","first-page":"1739","article-title":"Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the P450arom gene: impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood","volume":"82","author":"Mullis","year":"1997","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2021.101580_bib27","first-page":"377","article-title":"Aromatase deficiency due to a novel mutation in CYP19A1 gene","volume":"10","author":"Unal","year":"2018","journal-title":"Journal of Clinical Research in Pediatric Endocrinology"},{"key":"10.1016\/j.beem.2021.101580_bib28","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1196\/annals.1315.008","article-title":"Mutations in the synthesis and action of estrogen: the critical role in the male of estrogen on pubertal growth, skeletal maturation, and bone mass","volume":"1038","author":"Grumbach","year":"2004","journal-title":"Ann N Y Acad Sci"},{"key":"10.1016\/j.beem.2021.101580_bib29","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/j.fertnstert.2013.12.022","article-title":"Aromatase and estrogen receptor \u03b1 deficiency","volume":"101","author":"Bulun","year":"2014","journal-title":"Fertil Steril"},{"key":"10.1016\/j.beem.2021.101580_bib30","doi-asserted-by":"crossref","DOI":"10.1210\/jendso\/bvaa030","article-title":"Novel CYP19A1 Mutations extend the genotype-phenotype correlation and reveal the impact on ovarian function","volume":"4","author":"Praveen","year":"2020","journal-title":"Journal of the Endocrine Society"},{"key":"10.1016\/j.beem.2021.101580_bib31","doi-asserted-by":"crossref","first-page":"1855","DOI":"10.1056\/NEJMoa021559","article-title":"Estrogen excess associated with novel gain\u2013of\u2013function mutations affecting the aromatase gene","volume":"348","author":"Shozu","year":"2003","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.beem.2021.101580_bib32","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","author":"Shozu","year":"2014","journal-title":"Expet Rev Endocrinol Metabol"},{"key":"10.1016\/j.beem.2021.101580_bib33","first-page":"298","article-title":"Aromatase excess syndrome: a rare autosomal dominant disorder leading to pre\u2013 or peri\u2013pubertal onset gynecomastia","volume":"11","author":"Fukami","year":"2014","journal-title":"Pediatr Endocrinol Rev"},{"key":"10.1016\/j.beem.2021.101580_bib34","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1210\/jc.2004-1566","article-title":"Dominant transmission of prepubertal gynecomastia due to serum estrone excess: hormonal, biochemical, and genetic analysis in a large kindred","volume":"90","author":"Binder","year":"2005","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2021.101580_bib35","doi-asserted-by":"crossref","first-page":"3027","DOI":"10.1210\/jc.2002-021780","article-title":"Familial hyperestrogenism in both sexes: clinical, hormonal, and molecular studies of two siblings","volume":"88","author":"Martin","year":"2003","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2021.101580_bib36","doi-asserted-by":"crossref","first-page":"2529","DOI":"10.1093\/hmg\/ddm145","article-title":"Regional rearrangements in chromosome 15q21 cause formation of cryptic promoters for the CYP19 (aromatase) gene","volume":"16","author":"Demura","year":"2007","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.beem.2021.101580_bib37","doi-asserted-by":"crossref","first-page":"4184","DOI":"10.1210\/jc.2004-2176","article-title":"A\u00a0potential rearrangement between CYP19 and TRPM7 genes on chromosome 15q21.2 as a cause of aromatase excess syndrome","volume":"90","author":"Tiulpakov","year":"2005","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2021.101580_bib38","first-page":"1348","article-title":"The aromatase excess syndrome is associated with feminization of both sexes and autosomal dominant transmission of aberrant P450 aromatase gene transcription","volume":"83","author":"Stratakis","year":"1998","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2021.101580_bib39","doi-asserted-by":"crossref","first-page":"E1035","DOI":"10.1210\/jc.2011-0145","article-title":"Aromatase excess syndrome: identification of cryptic duplications and deletions leading to gain of function of CYP19A1 and assessment of phenotypic determinants","volume":"96","author":"Fukami","year":"2011","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2021.101580_bib40","doi-asserted-by":"crossref","first-page":"E2013","DOI":"10.1210\/jc.2013-2520","article-title":"Genomic basis of aromatase excess syndrome: recombination\u2013 and replication\u2013mediated rearrangements leading to CYP19A1 overexpression","volume":"98","author":"Fukami","year":"2013","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2021.101580_bib41","first-page":"591","article-title":"Female pseudohermaphroditism associated with maternal steroid cell tumor, not otherwise specified of the ovary: a case report and literature review","volume":"40","author":"Hasegawa","year":"2013","journal-title":"Clin Exp Obstet Gynecol"},{"key":"10.1016\/j.beem.2021.101580_bib42","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1111\/ped.12518","article-title":"Cytochrome P450 oxidoreductase deficiency: rare congenital disorder leading to skeletal malformations and steroidogenic defects","volume":"56","author":"Fukami","year":"2014","journal-title":"Pediatr Int"},{"key":"10.1016\/j.beem.2021.101580_bib43","doi-asserted-by":"crossref","first-page":"1955","DOI":"10.1210\/jc.2009-2108","article-title":"Estrogen negative feedback on gonadotropin secretion: evidence for a direct pituitary effect in women","volume":"95","author":"Shaw","year":"2010","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2021.101580_bib44","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1159\/000341585","article-title":"Impact of estrogen replacement throughout childhood on growth, pituitary-gonadal axis and bone in a 46,XX patient with CYP19A1 deficiency","volume":"78","author":"Janner","year":"2012","journal-title":"Hormone Research in Paediatrics"},{"key":"10.1016\/j.beem.2021.101580_bib45","doi-asserted-by":"crossref","first-page":"684","DOI":"10.1038\/nrendo.2014.139","article-title":"Gynaecomastia\u2013 \u2013pathophysiology, diagnosis and treatment","volume":"10","author":"Narula","year":"2014","journal-title":"Nat Rev Endocrinol"},{"key":"10.1016\/j.beem.2021.101580_bib46","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1111\/cen.12329","article-title":"Aromatase excess syndrome in a family with upstream deletion of CYP19A1","volume":"81","author":"Shihara","year":"2014","journal-title":"Clin Endocrinol"},{"key":"10.1016\/j.beem.2021.101580_bib47","doi-asserted-by":"crossref","DOI":"10.1210\/clinem\/dgab054","article-title":"Long-term effect of aromatase inhibition in aromatase excess syndrome","author":"Binder","year":"2021","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2021.101580_bib48","doi-asserted-by":"crossref","first-page":"3748","DOI":"10.1210\/jc.2018-00769","article-title":"Early-onset complete ovarian failure and lack of puberty in a woman with mutated estrogen receptor \u03b2 (ESR2)","volume":"103","author":"Lang-Muritano","year":"2018","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2021.101580_bib49","doi-asserted-by":"crossref","first-page":"1056","DOI":"10.1056\/NEJM199410203311604","article-title":"Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man","volume":"331","author":"Smith","year":"1994","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.beem.2021.101580_bib50","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1056\/NEJMoa1303611","article-title":"Delayed puberty and estrogen resistance in a woman with estrogen receptor \u03b1 variant","volume":"369","author":"Quaynor","year":"2013","journal-title":"N\u00a0Engl J Med"},{"issue":"1","key":"10.1016\/j.beem.2021.101580_bib51","first-page":"93","article-title":"Familial multiplicity of estrogen insensitivity associated with a loss-of-function ESR1 mutation","volume":"102","author":"Bernard","year":"2017","journal-title":"J\u00a0Clin Endocrinol Metab"},{"issue":"8","key":"10.1016\/j.beem.2021.101580_bib52","doi-asserted-by":"crossref","first-page":"4716","DOI":"10.1210\/jc.2005-0211","article-title":"Association of cryptorchidism with a specific haplotype of the estrogen receptor alpha gene: implication for the susceptibility to estrogenic environmental endocrine disruptors","volume":"90","author":"Yoshida","year":"2005","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2021.101580_bib53","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1007\/s10815-014-0212-5","article-title":"Association of polymorphisms in estrogen receptors (ESR1 and ESR2) with male infertility: a meta-analysis and systematic review","volume":"31","author":"Ge","year":"2014","journal-title":"J\u00a0Assist Reprod Genet"},{"key":"10.1016\/j.beem.2021.101580_bib54","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1038\/gim.2017.163","article-title":"Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development","volume":"20","author":"Baetens","year":"2018","journal-title":"Genet Med"},{"key":"10.1016\/j.beem.2021.101580_bib55","doi-asserted-by":"crossref","first-page":"148","DOI":"10.3389\/fendo.2020.00148","article-title":"Does GPER really function as a G protein-coupled estrogen receptor in\u00a0vivo?","volume":"11","author":"Luo &J Liu","year":"2020","journal-title":"Front Endocrinol"},{"key":"10.1016\/j.beem.2021.101580_bib56","doi-asserted-by":"crossref","first-page":"595895","DOI":"10.3389\/fendo.2020.595895","article-title":"Does GPER1 play a role in sexual dimorphism?","volume":"11","author":"Dovey","year":"2020","journal-title":"Front Endocrinol"},{"key":"10.1016\/j.beem.2021.101580_bib57","doi-asserted-by":"crossref","first-page":"1478","DOI":"10.1210\/clinem\/dgaa106","article-title":"Long-term follow-up and treatment of a female with complete estrogen insensitivity","volume":"105","author":"Brakta","year":"2020","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2021.101580_bib58","doi-asserted-by":"crossref","first-page":"528","DOI":"10.7326\/0003-4819-151-8-200910200-00006","article-title":"Genetic factors for osteoporosis consortium. Collaborative meta-analysis: associations of 150 candidate genes with osteoporosis and osteoporotic fracture","volume":"151","author":"Richards","year":"2009","journal-title":"Ann Intern Med"},{"key":"10.1016\/j.beem.2021.101580_bib59","doi-asserted-by":"crossref","first-page":"2263","DOI":"10.1001\/jama.290.17.2263","article-title":"Association between estrogen receptor alpha gene variation and cardiovascular disease","volume":"290","author":"Shearman","year":"2003","journal-title":"JAMA, J Am Med Assoc"},{"key":"10.1016\/j.beem.2021.101580_bib60","doi-asserted-by":"crossref","first-page":"144406","DOI":"10.1016\/j.gene.2020.144406","article-title":"Association of genetic variants in Estrogen receptor (ESR)1 and ESR2 with susceptibility to recurrent pregnancy loss in Tunisian women: a case control study","volume":"736","author":"Bahia","year":"2020","journal-title":"Gene"},{"key":"10.1016\/j.beem.2021.101580_bib61","doi-asserted-by":"crossref","first-page":"2316","DOI":"10.18632\/aging.101548","article-title":"The etiological effect of a new low-frequency ESR1 variant on mild cognitive impairment and Alzheimer's disease: a population-based study","volume":"10","author":"Li","year":"2018","journal-title":"Aging"},{"key":"10.1016\/j.beem.2021.101580_bib62","doi-asserted-by":"crossref","first-page":"8891","DOI":"10.1158\/0008-5472.CAN-04-1256","article-title":"Estrogen receptor genotypes and haplotypes associated with breast cancer risk","volume":"64","author":"Gold","year":"2004","journal-title":"Canc Res"},{"key":"10.1016\/j.beem.2021.101580_bib63","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1038\/nrclinonc.2015.117","article-title":"ESR1 mutations\u2014a mechanism for acquired endocrine resistance in breast cancer","volume":"12","author":"Jeselsohn","year":"2015","journal-title":"Nat Rev Clin Oncol"},{"key":"10.1016\/j.beem.2021.101580_bib64","doi-asserted-by":"crossref","first-page":"10383","DOI":"10.1096\/fj.201802586RR","article-title":"A\u00a0critical role for estrogen signaling in penis development","volume":"33","author":"Govers","year":"2019","journal-title":"Faseb J"},{"key":"10.1016\/j.beem.2021.101580_bib65","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1111\/cge.12083","article-title":"Estrogen receptor mutation in a girl with primary amenorrhea","volume":"83","author":"Asadi","year":"2013","journal-title":"Clin Genet"},{"key":"10.1016\/j.beem.2021.101580_bib66","doi-asserted-by":"crossref","first-page":"1836","DOI":"10.1093\/hmg\/ddw057","article-title":"Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression","volume":"25","author":"Smith","year":"2016","journal-title":"Hum Mol Genet"}],"container-title":["Best Practice &amp; Research Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521690X2100097X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521690X2100097X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T16:57:56Z","timestamp":1761497876000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1521690X2100097X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1]]},"references-count":66,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,1]]}},"alternative-id":["S1521690X2100097X"],"URL":"https:\/\/doi.org\/10.1016\/j.beem.2021.101580","relation":{},"ISSN":["1521-690X"],"issn-type":[{"value":"1521-690X","type":"print"}],"subject":[],"published":{"date-parts":[[2022,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Congenital disorders of estrogen biosynthesis and action","name":"articletitle","label":"Article Title"},{"value":"Best Practice & Research Clinical Endocrinology & Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.beem.2021.101580","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"101580"}}