{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T09:24:53Z","timestamp":1774949093669,"version":"3.50.1"},"reference-count":10,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2015]]},"abstract":"<b><i>Background:<\/i><\/b> Recent reports have indicated that loss-of-function mutations in the immunoglobulin superfamily member 1 gene (<i>IGSF1<\/i>, OMIM 300888) cause congenital central hypothyroidism with macroorchidism. <b><i>Methods:<\/i><\/b> We conducted a next-generation sequencing-based comprehensive mutation screening for pituitary hormone deficiencies to elucidate molecular mechanisms other than anatomical abnormalities of the pituitary that might be responsible for multiple anterior hormone deficiency in a male patient who originally visited our institute complaining of short stature. He was born large for gestational age (4,370 g, +3.0 SD) after an obstructed labour. Endocrinological evaluation revealed growth hormone and thyroid-stimulating hormone deficiency. Magnetic resonance imaging showed a discontinuity of the pituitary stalk with an ectopic posterior lobe and a hypoplastic anterior lobe, likely explaining multiple anterior pituitary hormone deficiency. <b><i>Re<\/i><\/b><b><i>sult:<\/i><\/b> We identified a novel hemizygous <i>IGSF1<\/i> mutation (c.1137_1138delCA, p.Asn380Glnfs*6) in the patient. In reviewing the literature, we noticed that all reported Japanese male <i>IGSF1<\/i> mutation carriers were born larger than mean standards for gestational age (mean birth weight SD score of +2.0, 95% confidence interval 1.0-3.0). <b><i>Conclusion:<\/i><\/b> This case suggests that more attention should be paid to intrauterine growth and birth history when patients are suspected of having an <i>IGSF1<\/i> mutation.<\/jats:p>","DOI":"10.1159\/000438672","type":"journal-article","created":{"date-parts":[[2015,8,18]],"date-time":"2015-08-18T21:01:30Z","timestamp":1439931690000},"page":"349-354","source":"Crossref","is-referenced-by-count":22,"title":["Combined Growth Hormone and Thyroid-Stimulating Hormone Deficiency in a Japanese Patient with a Novel Frameshift Mutation in IGSF1"],"prefix":"10.1159","volume":"84","author":[{"given":"Yumi","family":"Asakura","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kiyomi","family":"Abe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koji","family":"Muroya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Junko","family":"Hanakawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuji","family":"Oto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoshi","family":"Narumi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomonobu","family":"Hasegawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masanori","family":"Adachi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2015,8,19]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2453"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-2743"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj.EJ13-0009"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-1224"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj.EJ12-0110"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1159\/000355279"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1997.5156"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(98)00253-4"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M807527200"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1159\/000087746"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/438672","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/438672","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:43:05Z","timestamp":1745430185000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000438672"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":10,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2015,11,1]]},"published-print":{"date-parts":[[2015,11,23]]}},"URL":"https:\/\/doi.org\/10.1159\/000438672","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015]]}}}