{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T18:20:26Z","timestamp":1781634026894,"version":"3.54.5"},"reference-count":19,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,1,2]],"date-time":"2013-01-02T00:00:00Z","timestamp":1357084800000},"content-version":"vor","delay-in-days":51,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Andrology"],"published-print":{"date-parts":[[2012,11,12]]},"abstract":"<jats:p><jats:bold>Abstract:<\/jats:bold> A 31\u2010year\u2010old Caucasian male was referred for panhypopituitarism resulting from a surgically removed craniopharyngioma. The patient had been previously submitted to kidney transplantation for end\u2010stage renal disease from X\u2010linked Alport syndrome (ATS). Subsequent quantitative fluorescent polymerase chain reaction analysis indicated a 47,XXY karyotype consistent with Klinefelter syndrome (KS). The relevance of this unique case stems from several issues: 1) KS was an unexpected finding because of a previous diagnosis of hypogonadotropic hypogonadism resulting from craniopharyngioma; 2) the discovery of a de novo p.G406S substitution causing ATS; and 3) the multifactor origin of severe sexual dysfunction. This is the first description of the co\u2010occurrence of KS, ATS, and craniopharyngioma.<\/jats:p>","DOI":"10.2164\/jandrol.111.016204","type":"journal-article","created":{"date-parts":[[2012,11,29]],"date-time":"2012-11-29T22:47:54Z","timestamp":1354229274000},"page":"1155-1159","source":"Crossref","is-referenced-by-count":7,"title":["A Unique Patient Presenting With Concomitant Klinefelter Syndrome, Alport Syndrome, and Craniopharyngioma"],"prefix":"10.1002","volume":"33","author":[{"given":"Mario","family":"Rotondi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Fallerini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Pirali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilaria","family":"Longo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Pasquali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Rampino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Chiovato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Mari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Renieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,1,2]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201452"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2349482"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/molehr\/gah108"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1743-6109.2006.00262.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2605.2009.00986.x"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.4.326"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj.49.523"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.ASN.0000090034.71205.74"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0090-3019(03)00454-3"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2010.168"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.ajkd.2010.06.016"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.54.12.2218"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ijir.3901006"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1159\/000138887"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03350351"},{"key":"e_1_2_6_17_1","first-page":"1192","article-title":"X\u2010linked Alport syndrome: an SSCP\u2010based mutation survey over all 51 exons of the COL4A5 gene.","volume":"58","author":"Renieri A","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2011.05.074"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(07)60673-4"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2010.09.006"}],"container-title":["Journal of Andrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.2164%2Fjandrol.111.016204","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.2164\/jandrol.111.016204","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T01:05:07Z","timestamp":1698627907000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.2164\/jandrol.111.016204"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,11,12]]},"references-count":19,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2012,11,12]]}},"alternative-id":["10.2164\/jandrol.111.016204"],"URL":"https:\/\/doi.org\/10.2164\/jandrol.111.016204","archive":["Portico"],"relation":{},"ISSN":["0196-3635","1939-4640"],"issn-type":[{"value":"0196-3635","type":"print"},{"value":"1939-4640","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,11,12]]}}}