{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T22:51:47Z","timestamp":1761519107179,"version":"3.40.5"},"reference-count":27,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Sex Dev"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>The androgen insensitivity syndrome (AIS) is described as a dysfunction of the androgen receptor (AR) in 46,XY individuals, which can be associated with mutations in the &lt;i&gt;AR&lt;\/i&gt; gene or can be due to unknown mechanisms. Different mutations in AIS generally cause variable phenotypes that range from a complete hormone resistance to a mild form usually associated with male infertility. The purpose of this study was to search for mutations in the &lt;i&gt;AR&lt;\/i&gt; gene in a fertile man with gynecomastia and to evaluate the influence of the mutation on the AR transactivation ability. Sequencing of the &lt;i&gt;AR&lt;\/i&gt; gene revealed the p.Pro695Ser mutation. It is located within the AR ligand-binding domain. Bioinformatics analysis indicated a deleterious role, which was verified after testing transactivation activity and N-\/C-terminal (N\/C) interaction by in vitro expression of a reporter gene and 2-hybrid assays. p.Pro695Ser showed low levels of both transactivation activity and N\/C interaction at low dihydrotestosterone (DHT) conditions. As the ligand concentration increased, both transactivation activity and N\/C interaction also increased and reached normal levels. Therefore, this study provides functional insights for the p.Pro695Ser mutation described here for the first time in a patient with mild AIS. The expression profile of p.Pro695Ser not only correlates to the patient's phenotype, but also suggests that a high-dose DHT therapy may overcome the functional deficit of the mutant AR.<\/jats:p>","DOI":"10.1159\/000368862","type":"journal-article","created":{"date-parts":[[2014,11,17]],"date-time":"2014-11-17T07:29:49Z","timestamp":1416209389000},"page":"350-355","source":"Crossref","is-referenced-by-count":8,"title":["Preserved Fertility in a Patient with Gynecomastia Associated with the p.Pro695Ser Mutation in the Androgen Receptor"],"prefix":"10.1159","volume":"8","author":[{"given":"Reginaldo J.","family":"Petroli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7490-4983","authenticated-orcid":false,"given":"Olaf","family":"Hiort","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dagmar","family":"Struve","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e9a T.","family":"Maciel-Guerra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gil","family":"Guerra-J\u00fanior","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0521-9100","authenticated-orcid":false,"given":"Maricilda","family":"Palandi de Mello","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ralf","family":"Werner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2014,11,15]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/S0303-7207(01)00466-X"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-61779-243-4_1"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.85.19.7211"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.juro.2008.06.045"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1210\/jc.87.1.347"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2012.02.019"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0708036104"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.85.6.6626"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(02)00009-4"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M511738200"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2011.07.025"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(98)70387-7"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.85.8.6713"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2007.11.001"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1055\/s-0032-1324728"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1677\/jme.1.01885"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-46-6-961"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1126\/science.3353727"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-0760(97)00049-6"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1186\/1756-0500-4-173"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1677\/erc.0.0110117"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1210\/edrv-16-3-271"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.081565498"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(88)81214-2"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsbmb.2006.06.016"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1159\/000129692"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1002\/prot.22592"}],"container-title":["Sexual Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/368862","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/368862","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:55:24Z","timestamp":1745430924000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000368862"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014]]},"references-count":27,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2015,1,1]]},"published-print":{"date-parts":[[2015,1,15]]}},"URL":"https:\/\/doi.org\/10.1159\/000368862","archive":["Portico"],"relation":{},"ISSN":["1661-5425","1661-5433"],"issn-type":[{"type":"print","value":"1661-5425"},{"type":"electronic","value":"1661-5433"}],"subject":[],"published":{"date-parts":[[2014]]}}}