{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T17:28:27Z","timestamp":1762018107908},"reference-count":16,"publisher":"Walter de Gruyter GmbH","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,3,28]]},"abstract":"Abstract<\/jats:title>\n \n Background:<\/jats:title>\n \n IGSF1<\/jats:italic> abnormality causes diverse symptoms, including congenital central hypothyroidism (CCH), prolactin hyposecretion, testicular enlargement and delayed puberty.<\/jats:p>\n <\/jats:sec>\n \n Case presentation:<\/jats:title>\n Here, we report a case of a male patient who visited our hospital with a chief complaint of abdominal pain and short stature, in whom we identified a novel IGSF1<\/jats:italic> mutation. He was closely examined because of chronic constipation since infancy, persistent abdominal pain at 14 years of age and marked short stature (\u22124.7 standard deviation [SD] for normal Japanese boys). He was diagnosed with CCH. Decreased prolactin (PRL) secretion was also observed. IGSF1<\/jats:italic> analysis revealed a novel mutation at the splicing donor site (c.2065+1G>A) in intron 11. In silico analysis predicted this mutation to be a non-functional splice donor site. After thyroid hormone replacement, his thyroid function, constipation and growth rate improved.<\/jats:p>\n <\/jats:sec>\n \n Conclusions:<\/jats:title>\n This is the first report of a patient in whom constipation and short stature led to a diagnosis of CCH with a novel IGSF1<\/jats:italic> mutation.<\/jats:p>\n <\/jats:sec>","DOI":"10.1515\/jpem-2017-0144","type":"journal-article","created":{"date-parts":[[2018,4,6]],"date-time":"2018-04-06T22:16:24Z","timestamp":1523052984000},"page":"355-359","source":"Crossref","is-referenced-by-count":5,"title":["A Japanese patient with congenital central hypothyroidism caused by a novel IGSF1<\/i> mutation"],"prefix":"10.1515","volume":"31","author":[{"given":"Takeshi","family":"Yamaguchi","sequence":"first","affiliation":[{"name":"Department of Pediatrics , Hokkaido University School of Medicine, Kita-ku , Sapporo , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoyuki","family":"Hothubo","sequence":"additional","affiliation":[{"name":"Sapporo Children\u2019s Endocrine Clinic, Chuo-ku , Sapporo , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuntaro","family":"Morikawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Hokkaido University School of Medicine, Kita-ku , Sapporo , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akie","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Hokkaido University School of Medicine, Kita-ku , Sapporo , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshihiko","family":"Mori","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , NTT East Sapporo Hospital, Chuo-ku , Sapporo, Hokkaido , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshihiro","family":"Tajima","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Jichi Children\u2019s Medical Center, Yakishiji , Shimotsuke, Tochigi , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2018,2,9]]},"reference":[{"key":"2021021317393833144_j_jpem-2017-0144_ref_001_w2aab3b7c13b1b6b1ab2b1b1Aa","doi-asserted-by":"crossref","unstructured":"Tajima T, Nakamura A, Morikawa S, Ishizu K. Neonatal screening and a new cause of congenital central hypothyroidism. Ann Pediatr Endocrinol Metab 2014;19:117\u201321.","DOI":"10.6065\/apem.2014.19.3.117"},{"key":"2021021317393833144_j_jpem-2017-0144_ref_002_w2aab3b7c13b1b6b1ab2b1b2Aa","doi-asserted-by":"crossref","unstructured":"Sun Y, Bak B, Schoenmakers N, van Trotsenburg AS, Oostdijk W, et al. Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. Nat Genet 2012;44:1375\u201381.","DOI":"10.1038\/ng.2453"},{"key":"2021021317393833144_j_jpem-2017-0144_ref_003_w2aab3b7c13b1b6b1ab2b1b3Aa","doi-asserted-by":"crossref","unstructured":"Joustra SD, Meijer OC, Heinen CA, Mol IM, Laghmani el H, et al. Spatial and temporal expression of immunoglobulin superfamily member 1 in the rat. 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