{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,8]],"date-time":"2025-09-08T06:05:11Z","timestamp":1757311511569},"reference-count":31,"publisher":"Japan Endocrine Society","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Endocr J"],"published-print":{"date-parts":[[2011]]},"DOI":"10.1507\/endocrj.k11e-119","type":"journal-article","created":{"date-parts":[[2011,6,30]],"date-time":"2011-06-30T05:20:23Z","timestamp":1309411223000},"page":"769-776","source":"Crossref","is-referenced-by-count":15,"title":["Identification by array-Comparative Genomic Hybridization (array-CGH) of a large deletion of luteinizing hormone receptor gene combined with a missense mutation in a patient diagnosed with a 46,XY disorder of sex development and application to prenatal diagnosis"],"prefix":"10.1507","volume":"58","author":[{"given":"Nicolas","family":"Richard","sequence":"first","affiliation":[{"name":"Department of Genetics, Caen University Hospital, Caen, France"},{"name":"IFR 146 ICORE - EA 2608, Caen University, Caen, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u00e9line","family":"Leprince","sequence":"additional","affiliation":[{"name":"Department of Genetics, Caen University Hospital, Caen, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicolas","family":"Gruchy","sequence":"additional","affiliation":[{"name":"Department of Genetics, Caen University Hospital, Caen, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pascal","family":"Pigny","sequence":"additional","affiliation":[{"name":"Biology and Pathology Center, Lille University Hospital, Lille, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joris","family":"Andrieux","sequence":"additional","affiliation":[{"name":"Biology and Pathology Center, Lille University Hospital, Lille, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Herv\u00e9","family":"Mittre","sequence":"additional","affiliation":[{"name":"Department of Genetics, Caen University Hospital, Caen, France"},{"name":"IFR 146 ICORE - EA 2608, Caen University, Caen, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvie","family":"Manouvrier","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Lille University Hospital, Lille, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Najiba","family":"Lahlou","sequence":"additional","affiliation":[{"name":"Department of Hormonal Biology, Cochin University Hospital, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacques","family":"Weill","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Lille University Hospital, Lille, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie-Laure","family":"Kottler","sequence":"additional","affiliation":[{"name":"Department of Genetics, Caen University Hospital, Caen, France"},{"name":"IFR 146 ICORE - EA 2608, Caen University, Caen, France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"386","reference":[{"issue":"2","key":"1","first-page":"125","volume":"201","year":"1992","ISSN":"http:\/\/id.crossref.org\/issn\/0037-9727","issn-type":"print"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. McFarland KC, Sprengel R, Phillips HS, Kohler M, Rosemblit N, Nikolics K, Segaloff DL, Seeburg PH (1989) Lutropin-choriogonadotropin receptor: an unusual member of the G protein-coupled receptor family. <i>Science<\/i> 245:494-499.","DOI":"10.1126\/science.2502842"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1038\/ng0295-160"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Laue L, Wu SM, Kudo M, Hsueh AJ, Cutler GB, Jr., Griffin JE, Wilson JD, Brain C, Berry AC, Grant DB, et al. (1995) A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia. <i>Hum Mol Genet<\/i> 4:1429-1433.","DOI":"10.1093\/hmg\/4.8.1429"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1210\/jc.80.8.2490"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.92.6.1906"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1038\/365652a0"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1210\/jc.80.4.1162"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Toledo SP (1992) Leydig cell hypoplasia leading to two different phenotypes: male pseudohermaphroditism and primary hypogonadism not associated with this. <i>Clin Endocrinol (Oxf)<\/i> 36:521-522.","DOI":"10.1111\/j.1365-2265.1992.tb02256.x"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Berthezene F, Forest MG, Grimaud JA, Claustrat B, Mornex R (1976) Leydig-cell agenesis: a cause of male pseudohermaphroditism. <i>N Engl J Med<\/i> 295:969-972.","DOI":"10.1056\/NEJM197610282951801"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199602223340805"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1210\/me.10.8.987"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Saldanha PH, Arnhold IJ, Mendonca BB, Bloise W, Toledo SP (1987) A clinico-genetic investigation of Leydig cell hypoplasia. <i>Am J Med Genet<\/i> 26:337-344.","DOI":"10.1002\/ajmg.1320260212"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1126\/science.2502844"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1210\/jc.85.6.2281"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Gromoll J, Schulz A, Borta H, Gudermann T, Teerds KJ, Greschniok A, Nieschlag E, Seif FJ (2002) Homozygous mutation within the conserved Ala-Phe-Asn-Glu-Thr motif of exon 7 of the LH receptor causes male pseudohermaphroditism. <i>Eur J Endocrinol<\/i> 147:597-608.","DOI":"10.1530\/eje.0.1470597"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Kossack N, Simoni M, Richter-Unruh A, Themmen AP, Gromoll J (2008) Mutations in a novel, cryptic exon of the luteinizing hormone\/chorionic gonadotropin receptor gene cause male pseudohermaphroditism. <i>PLoS Med<\/i> 5:e88.","DOI":"10.1371\/journal.pmed.0050088"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.1210\/me.12.3.442"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Leung MY, Al-Muslim O, Wu SM, Aziz A, Inam S, Awadh M, Rennert OM, Chan WY (2004) A novel missense homozygous inactivating mutation in the fourth transmembrane helix of the luteinizing hormone receptor in leydig cell hypoplasia. <i>Am J Med Genet A<\/i> 130A:146-153.","DOI":"10.1002\/ajmg.a.20681"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Martens JW, Lumbroso S, Verhoef-Post M, Georget V, Richter-Unruh A, Szarras-Czapnik M, Romer TE, Brunner HG, Themmen AP, Sultan C (2002) Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal processing causes signaling deficiency. <i>J Clin Endocrinol Metab<\/i> 87:2506-2513.","DOI":"10.1210\/jcem.87.6.8523"},{"key":"21","doi-asserted-by":"publisher","DOI":"10.1210\/me.12.6.775"},{"key":"22","unstructured":"22. Misrahi M, Meduri G, Pissard S, Bouvattier C, Beau I, Loosfelt H, Jolivet A, Rappaport R, Milgrom E, Bougneres P (1997) Comparison of immunocytochemical and molecular features with the phenotype in a case of incomplete male pseudohermaphroditism associated with a mutation of the luteinizing hormone receptor. <i>J Clin Endocrinol Metab<\/i> 82:2159-2165."},{"key":"23","doi-asserted-by":"crossref","unstructured":"23. Qiao J, Han B, Liu BL, Chen X, Ru Y, Cheng KX, Chen FG, Zhao SX, Liang J, Lu YL, Tang JF, Wu YX, Wu WL, Chen JL, Chen MD, Song HD (2009) A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism. <i>Hum Mutat<\/i> 30:E855-865.","DOI":"10.1002\/humu.21072"},{"key":"24","doi-asserted-by":"crossref","unstructured":"24. Richter-Unruh A, Korsch E, Hiort O, Holterhus PM, Themmen AP, Wudy SA (2005) Novel insertion frameshift mutation of the LH receptor gene: problematic clinical distinction of Leydig cell hypoplasia from enzyme defects primarily affecting testosterone biosynthesis. <i>Eur J Endocrinol<\/i> 152:255-259.","DOI":"10.1530\/eje.1.01852"},{"key":"25","doi-asserted-by":"crossref","unstructured":"25. Richter-Unruh A, Martens JW, Verhoef-Post M, Wessels HT, Kors WA, Sinnecker GH, Boehmer A, Drop SL, Toledo SP, Brunner HG, Themmen AP (2002) Leydig cell hypoplasia: cases with new mutations, new polymorphisms and cases without mutations in the luteinizing hormone receptor gene. <i>Clin Endocrinol (Oxf)<\/i> 56:103-112.","DOI":"10.1046\/j.0300-0664.2001.01437.x"},{"key":"26","doi-asserted-by":"crossref","unstructured":"26. Richter-Unruh A, Verhoef-Post M, Malak S, Homoki J, Hauffa BP, Themmen AP (2004) Leydig cell hypoplasia: absent luteinizing hormone receptor cell surface expression caused by a novel homozygous mutation in the extracellular domain. <i>J Clin Endocrinol Metab<\/i> 89:5161-5167.","DOI":"10.1210\/jc.2004-0298"},{"key":"27","doi-asserted-by":"crossref","unstructured":"27. Salameh W, Choucair M, Guo TB, Zahed L, Wu SM, Leung MY, Rennert OM, Chan WY (2005) Leydig cell hypoplasia due to inactivation of luteinizing hormone receptor by a novel homozygous nonsense truncation mutation in the seventh transmembrane domain. <i>Mol Cell Endocrinol<\/i> 229:57-64.","DOI":"10.1016\/j.mce.2004.09.005"},{"key":"28","doi-asserted-by":"crossref","unstructured":"28. Stavrou SS, Zhu YS, Cai LQ, Katz MD, Herrera C, Defillo-Ricart M, Imperato-McGinley J (1998) A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters. <i>J Clin Endocrinol Metab<\/i> 83:2091-2098.","DOI":"10.1210\/jc.83.6.2091"},{"key":"29","doi-asserted-by":"publisher","DOI":"10.1210\/me.12.11.1651"},{"key":"30","doi-asserted-by":"crossref","unstructured":"30. Roselli CE, Liu M, Hurn PD (2009) Brain aromatization: classic roles and new perspectives. <i>Semin Reprod Med<\/i> 27:207-217.","DOI":"10.1055\/s-0029-1216274"},{"key":"31","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-2108"}],"container-title":["Endocrine Journal"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.jstage.jst.go.jp\/article\/endocrj\/58\/9\/58_K11E-119\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,13]],"date-time":"2021-04-13T06:56:30Z","timestamp":1618296990000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.jstage.jst.go.jp\/article\/endocrj\/58\/9\/58_K11E-119\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011]]},"references-count":31,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2011]]}},"URL":"https:\/\/doi.org\/10.1507\/endocrj.k11e-119","relation":{},"ISSN":["0918-8959","1348-4540"],"issn-type":[{"value":"0918-8959","type":"print"},{"value":"1348-4540","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011]]}}}