{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,25]],"date-time":"2025-04-25T04:11:28Z","timestamp":1745554288495,"version":"3.40.4"},"reference-count":7,"publisher":"S. Karger AG","issue":"3-4","license":[{"start":{"date-parts":[[2002,1,1]],"date-time":"2002-01-01T00:00:00Z","timestamp":1009843200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2002,1,1]],"date-time":"2002-01-01T00:00:00Z","timestamp":1009843200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2002]]},"abstract":"<jats:p>&lt;i&gt;Background\/Aims:&lt;\/i&gt; Mutations in the androgen receptor (AR) gene result in an X-linked recessive form of male pseudohermaphroditism known as the androgen-insensitivity syndrome (AIS). The alterations most frequently observed are missense or nonsense point mutations in exons 4\u20138 of the AR gene that affect the steroid-binding domain of the receptor in subjects with various degrees of androgen resistance. Despite the increasing number of AR mutations identified, a reliable genotype-phenotype correlation has not been established and individuals with the same molecular defect may exhibit different phenotypes. Here, we studied a patients with an AIS characterized by bilateral gynecomastia, normal male external genitalia, and normal sperm counts. &lt;i&gt;Methods:&lt;\/i&gt; Exon-specific polymerase chain reaction, single-stranded conformational polymorphism, and sequencing analysis of the subject\u2019s AR gene were performed in addition to hormone-binding assays in skin fibroblasts from the patient. &lt;i&gt;Results:&lt;\/i&gt; A point mutation at codon 870 of the AR, changing alanine to valine, was detected. &lt;i&gt;Conclusion:&lt;\/i&gt; As AR missense mutations changing alanine 870 to valine have been previously described in 3 unrelated patients showing severe AIS phenotypes, we conclude that phenotypic heterogeneity associated to identical mutations in the AR gene is probably due to individual functional differences in AR coregulator molecules.<\/jats:p>","DOI":"10.1159\/000057958","type":"journal-article","created":{"date-parts":[[2003,4,15]],"date-time":"2003-04-15T21:05:17Z","timestamp":1050440717000},"page":"90-93","source":"Crossref","is-referenced-by-count":8,"title":["Phenotypic Heterogeneity Associated with Identical Mutations in Residue 870 of the Androgen Receptor"],"prefix":"10.1159","volume":"57","author":[{"given":"Juan Carlos","family":"Zenteno","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bertha","family":"Ch\u00e1vez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Felipe","family":"Vilchis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susana","family":"Kofman-Alfaro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2002,5,15]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1210\/er.16.3.271"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050542"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)14:2<103::AID-HUMU2>3.0.CO;2-A"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050143"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1113"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200009213431205"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1096\/fj.99-0863com"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/57958","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/57958","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T03:56:47Z","timestamp":1745467007000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000057958"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002]]},"references-count":7,"journal-issue":{"issue":"3-4","published-online":{"date-parts":[[2002,7,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000057958","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"type":"print","value":"1663-2818"},{"type":"electronic","value":"1663-2826"}],"subject":[],"published":{"date-parts":[[2002]]}}}