{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T06:12:20Z","timestamp":1791353540573,"version":"4.3.1"},"reference-count":0,"publisher":"Oxford University Press (OUP)","issue":"2","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":["eur j endocrinol"],"published-print":{"date-parts":[[2007,2]]},"abstract":"<jats:p><jats:italic>Objective<\/jats:italic>: Heterozygous <jats:italic>SOX2<\/jats:italic> mutations have recently been reported to cause isolated hypogonadotropic hypogonadism (HH), in addition to ocular and brain abnormalities. Here, we report a further case with a heterozygous hypomorphic <jats:italic>SOX2<\/jats:italic> mutation and isolated HH.<\/jats:p>\n      <jats:p><jats:italic>Patient<\/jats:italic>: The patient was a 28-year-old Japanese female with congenital right anophthalmia and poor pubertal development, who was found to have HH by a gonadotropin-releasing hormone test (peak serum LH, 2.3 mIU\/ml; peak serum FSH, 2.9 mIU\/ml). Other pituitary hormones were normal.<\/jats:p>\n      <jats:p><jats:italic>Methods<\/jats:italic>: We performed mutation analysis of <jats:italic>SOX2<\/jats:italic> and functional studies of mutant SOX2 protein using the core enhancer sequence of the chicken \u03b4-1-crystallin gene (<jats:italic>DC5<\/jats:italic>) and that of the mouse nestin gene (<jats:italic>Nes30<\/jats:italic>).<\/jats:p>\n      <jats:p><jats:italic>Results<\/jats:italic>: A heterozygous missense mutation (224T &gt; A, Leu75Gln) was identified in the DNA-binding domain. The mutant SOX2 protein had a severely reduced (approximately 10%) DNA-binding affinity and a markedly diminished (20\u201330%) transactivation potential with no dominant negative effect.<\/jats:p>\n      <jats:p><jats:italic>Conclusions<\/jats:italic>: The results provide further support for the positive role of <jats:italic>SOX2<\/jats:italic> in the regulation of gonadotropin production.<\/jats:p>","DOI":"10.1530\/eje-06-0606","type":"journal-article","created":{"date-parts":[[2007,2,7]],"date-time":"2007-02-07T18:54:18Z","timestamp":1170874458000},"page":"167-171","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":38,"title":["Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2"],"prefix":"10.1093","volume":"156","author":[{"given":"Naoko","family":"Sato","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yusuke","family":"Kamachi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hisato","family":"Kondoh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuichi","family":"Shima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken-ichirou","family":"Morohashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reiko","family":"Horikawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsutomu","family":"Ogata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","container-title":["European Journal of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/156\/2\/1560167.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/156\/2\/1560167.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T16:19:40Z","timestamp":1676391580000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/156\/2\/167\/6695870"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,2]]},"references-count":0,"journal-issue":{"issue":"2"},"URL":"https:\/\/doi.org\/10.1530\/eje-06-0606","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,2]]}}}