{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,6]],"date-time":"2026-05-06T21:29:14Z","timestamp":1778102954035,"version":"3.51.4"},"reference-count":22,"publisher":"Oxford University Press (OUP)","issue":"3","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":["eur j endocrinol"],"published-print":{"date-parts":[[2005,9]]},"abstract":"<jats:p>Blepharophimosis\/ptosis\/epicanthus inversus syndrome (BPES), an autosomal dominant syndrome in which eyelid malformation is associated with (type I BPES) or without premature ovarian failure (type II BPES). Mutations of a putative winged helix\/forkhead transcription factor FOXL2 account for both types of BPES. We report on a 16-year-old adolescent girl with blepharophimosis and ptosis. Subsequently she developed oligomenorrhea, secondary amenorrhea for 6 months, and an extremely large cyst of one ovary. The cyst contained 8 l of cyst fluid and histopathology displayed a large corpus luteum cyst. Following laparotomy, gonadotropin levels were elevated (LH 17.2 U\/l, FSH 29.4 U\/l) and estradiol levels decreased (67 pmol\/l). Because of clinical aspects of BPES and abnormal ovarian function we suspected a mutation of her<jats:italic>FOXL2<\/jats:italic>gene and found a new in-frame mutation (904_939dup36) on one allele, leading to a 12 alanine expansion within the polyalanine domain. We conclude that the<jats:italic>FOXL2<\/jats:italic>mutation 904_939dup36 may account not only for blepharophimosis and ptosis but also for ovarian dysfunction and growth of the large corpus luteum cyst. In contrast to known<jats:italic>FOXL2<\/jats:italic>mutations with polyalanine expansions and association with BPES type II, clinical aspects of our girl may indicate some degree of ovarian dysfunction that might finally lead to BPES type I with premature ovarian failure.<\/jats:p>","DOI":"10.1530\/eje.1.01974","type":"journal-article","created":{"date-parts":[[2005,8,30]],"date-time":"2005-08-30T18:44:00Z","timestamp":1125427440000},"page":"353-358","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":24,"title":["A new heterozygous mutation of the FOXL2 gene is associated with a large ovarian cyst and ovarian dysfunction in an adolescent girl with blepharophimosis\/ptosis\/epicanthus inversus syndrome"],"prefix":"10.1093","volume":"153","author":[{"given":"K","family":"Raile","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Stobbe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R B","family":"Tro\u0308bs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W","family":"Kiess","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Pfa\u0308ffle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","reference":[{"issue":"5","key":"1_9086202","first-page":"1020","volume":"35","author":"Zlotogora","year":"1983","journal-title":"American journal of human genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"issue":"2","key":"2_11035272","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1038\/84781","volume":"27","author":"Crisponi","year":"2001","journal-title":"Nature genetics","ISSN":"https:\/\/id.crossref.org\/issn\/1061-4036","issn-type":"print"},{"issue":"1","key":"3_17254470","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1006\/dbio.2002.0780","volume":"250","author":"Carlsson","year":"2002","journal-title":"Developmental biology","ISSN":"https:\/\/id.crossref.org\/issn\/0012-1606","issn-type":"print"},{"issue":"7","key":"4_17678540","doi-asserted-by":"publisher","first-page":"3237","DOI":"10.1210\/en.2002-0095","volume":"144","year":"2003","journal-title":"Endocrinology","ISSN":"https:\/\/id.crossref.org\/issn\/0013-7227","issn-type":"print"},{"issue":"4","key":"5_18024527","doi-asserted-by":"publisher","first-page":"933","DOI":"10.1242\/dev.00969","volume":"131","year":"2004","journal-title":"Development","ISSN":"https:\/\/id.crossref.org\/issn\/0950-1991","issn-type":"print"},{"issue":"7","key":"6_18224681","doi-asserted-by":"publisher","first-page":"3424","DOI":"10.1210\/en.2003-1141","volume":"145","year":"2004","journal-title":"Endocrinology","ISSN":"https:\/\/id.crossref.org\/issn\/0013-7227","issn-type":"print"},{"issue":"2","key":"7_11189821","doi-asserted-by":"publisher","first-page":"439","DOI":"10.1006\/dbio.2001.0191","volume":"232","author":"Sullivan","year":"2001","journal-title":"Developmental biology","ISSN":"https:\/\/id.crossref.org\/issn\/0012-1606","issn-type":"print"},{"issue":"38","key":"8_16393548","doi-asserted-by":"publisher","first-page":"23126","DOI":"10.1074\/jbc.271.38.23126","volume":"271","author":"Costa","year":"1996","journal-title":"Journal of Biological Chemistry","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9258","issn-type":"print"},{"key":"9_25964105","first-page":"143","volume":"117","year":"2003","journal-title":"American journal of medical genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"issue":"3","key":"10_17781491","doi-asserted-by":"publisher","first-page":"222","DOI":"10.1002\/humu.10251","volume":"22","author":"Udar","year":"2003","journal-title":"Human mutation","ISSN":"https:\/\/id.crossref.org\/issn\/1059-7794","issn-type":"print"},{"issue":"5","key":"11_8243053","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1097\/00000478-198010000-00003","volume":"4","author":"Clement","year":"1980","journal-title":"The American journal of surgical pathology","ISSN":"https:\/\/id.crossref.org\/issn\/0147-5185","issn-type":"print"},{"issue":"3","key":"12_10335966","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1159\/000328498","volume":"44","author":"Haddad","year":"2000","journal-title":"Acta cytologica","ISSN":"https:\/\/id.crossref.org\/issn\/0001-5547","issn-type":"print"},{"issue":"5","key":"13_15662805","doi-asserted-by":"publisher","first-page":"1470","DOI":"10.1210\/jc.79.5.1470","volume":"79","author":"Nelson","year":"1994","journal-title":"Journal of Clinical Endocrinology &amp; 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