{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T22:56:25Z","timestamp":1787784985361,"version":"build-2784847793"},"reference-count":0,"publisher":"Bioscientifica","license":[{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,6,1]]},"abstract":"\n Summary<\/jats:title>\n \n Complete androgen-insensitivity syndrome (CAIS), a disorder of sex development (46,XY DSD), is caused primarily by mutations in the androgen receptor (\n AR<\/jats:italic>\n ). Gonadectomy is recommended due to the increased risk of gonadoblastoma, however, surgical intervention is often followed by loss of libido. We present a 26-year-old patient with CAIS who underwent gonadectomy followed by a significant decrease in libido, which was improved with testosterone treatment but not with estradiol. Genetic testing was performed and followed by molecular characterization. We found that this patient carried a previously unidentified start loss mutation in the androgen receptor. This variant resulted in an N-terminal truncated protein with an intact DNA binding domain and was confirmed to be loss-of-function\n in vitro<\/jats:italic>\n . This unique CAIS case and detailed functional studies raise intriguing questions regarding the relative roles of testosterone and estrogen in libido, and in particular, the potential non-genomic actions of androgens.\n <\/jats:p>\n <\/jats:sec>\n \n Learning points<\/jats:title>\n \n \n N-terminal truncation of androgen receptor can cause androgen-insensitivity syndrome.<\/jats:p>\n <\/jats:list-item>\n \n Surgical removal of testosterone-producing gonads can result in loss of libido.<\/jats:p>\n <\/jats:list-item>\n \n Libido may be improved with testosterone treatment but not with estradiol in some forms of CAIS.<\/jats:p>\n <\/jats:list-item>\n \n \n A previously unreported\n AR<\/jats:italic>\n mutation \u2013 p.Glu2_Met190del (c.2T>C) \u2013 is found in a CAIS patient and results in blunted AR transcriptional activity under testosterone treatment.\n <\/jats:p>\n <\/jats:list-item>\n <\/jats:list>\n <\/jats:sec>","DOI":"10.1530\/edm-21-0031","type":"journal-article","created":{"date-parts":[[2021,6,21]],"date-time":"2021-06-21T09:11:25Z","timestamp":1624266685000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":1,"title":["Testosterone-induced increase in libido in a patient with a loss-of-function mutation in the AR gene"],"prefix":"10.1530","volume":"2021","author":[{"given":"Laura","family":"Marino","sequence":"first","affiliation":[{"name":"1Department of Service of Endocrinology, Diabetes, and Metabolism, Faculty of Biology and Medicine, University of Lausanne, Lausanne University Hospital, Lausanne, Vaud, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Messina","sequence":"additional","affiliation":[{"name":"1Department of Service of Endocrinology, Diabetes, and Metabolism, Faculty of Biology and Medicine, University of Lausanne, Lausanne University Hospital, Lausanne, Vaud, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"S Acierno","sequence":"additional","affiliation":[{"name":"1Department of Service of Endocrinology, Diabetes, and Metabolism, Faculty of Biology and Medicine, University of Lausanne, Lausanne University Hospital, Lausanne, Vaud, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franziska","family":"Phan-Hug","sequence":"additional","affiliation":[{"name":"1Department of Service of Endocrinology, Diabetes, and Metabolism, Faculty of Biology and Medicine, University of Lausanne, Lausanne University Hospital, Lausanne, Vaud, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"J Niederl\u00e4nder","sequence":"additional","affiliation":[{"name":"1Department of Service of Endocrinology, Diabetes, and Metabolism, Faculty of Biology and Medicine, University of Lausanne, Lausanne University Hospital, Lausanne, Vaud, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Santoni","sequence":"additional","affiliation":[{"name":"1Department of Service of Endocrinology, Diabetes, and Metabolism, Faculty of Biology and Medicine, University of Lausanne, Lausanne University Hospital, Lausanne, Vaud, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"La Rosa","sequence":"additional","affiliation":[{"name":"2Department of Laboratory Medicine and Pathology, Centre Hospitalier Universitaire Vaudois, Lausanne, Vaud, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nelly","family":"Pitteloud","sequence":"additional","affiliation":[{"name":"1Department of Service of Endocrinology, Diabetes, and Metabolism, Faculty of Biology and Medicine, University of Lausanne, Lausanne University Hospital, Lausanne, Vaud, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","container-title":["Endocrinology, Diabetes & Metabolism Case Reports"],"original-title":[],"link":[{"URL":"https:\/\/edm.bioscientifica.com\/view\/journals\/edm\/2021\/1\/EDM21-0031.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/edm.bioscientifica.com\/downloadpdf\/journals\/edm\/2021\/1\/EDM21-0031.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:47:38Z","timestamp":1784555258000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.bioscientifica.com\/edm\/article\/3845"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,1]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1530\/edm-21-0031","relation":{},"ISSN":["2052-0573"],"issn-type":[{"value":"2052-0573","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,6,1]]}}}