{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,25]],"date-time":"2025-04-25T04:09:34Z","timestamp":1745554174665,"version":"3.40.4"},"reference-count":9,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2004,1,1]],"date-time":"2004-01-01T00:00:00Z","timestamp":1072915200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2004,1,1]],"date-time":"2004-01-01T00:00:00Z","timestamp":1072915200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Gynecol Obstet Invest"],"published-print":{"date-parts":[[2004]]},"abstract":"<jats:p>We describe the case of a girl with combined pituitary hormone deficiency (CPHD) carrying a balanced chromosomal translocation t(10;11)(q26;q13) with paternal transmission. Her father, with no apparent physical abnormalities, had the karyotype: 46, XY, t(10;11)(q26;q13). CPHD denotes impaired production of growth hormone (GH) and one or more of the other five anterior pituitary-derived hormones. &lt;i&gt;Pit-1&lt;\/i&gt; gene and &lt;i&gt;Prop-1&lt;\/i&gt; gene mutations and deletions have been reported being responsible for CPHD. Although our patient had a t(10;11) (q26q13) paternal chromosomal translocation, the phenotype was similar to that found in humans with different &lt;i&gt;Pit-1&lt;\/i&gt; or &lt;i&gt;Prop-1&lt;\/i&gt; gene alterations. Interestingly, the patient\u2019s father had the same translocation without phenotypic effects. In conclusion, we describe panhypopituitarism in a woman with a paternally transmitted translation, which appears to be phenotypically expressed only in females.<\/jats:p>","DOI":"10.1159\/000078864","type":"journal-article","created":{"date-parts":[[2004,6,21]],"date-time":"2004-06-21T18:30:54Z","timestamp":1087842654000},"page":"114-116","source":"Crossref","is-referenced-by-count":0,"title":["Chromosomal Translocation t(10;11)(q26;q13) in a Woman with Combined Pituitary Hormone Deficiency"],"prefix":"10.1159","volume":"58","author":[{"given":"Thomas","family":"Laml","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oliver","family":"Preyer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wolfgang","family":"Umek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johannes","family":"Huber","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Markus","family":"Hengstschl\u00e4ger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2004,8,13]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1126%2Fscience.257.5073.1118"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.81.8.2790"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.84.5.1645"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.85.8.2779"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.85.12.4556"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.83.10.3727"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1172%2FJCI116524"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.82.6.1675"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.84.8.2759"}],"container-title":["Gynecologic and Obstetric Investigation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/78864","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/78864","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T03:19:18Z","timestamp":1745464758000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000078864"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004]]},"references-count":9,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2004,8,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000078864","archive":["Portico"],"relation":{},"ISSN":["0378-7346","1423-002X"],"issn-type":[{"type":"print","value":"0378-7346"},{"type":"electronic","value":"1423-002X"}],"subject":[],"published":{"date-parts":[[2004]]}}}