{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,2,15]],"date-time":"2023-02-15T05:23:41Z","timestamp":1676438621199},"reference-count":0,"publisher":"Oxford University Press (OUP)","issue":"1","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[1964,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n        <jats:p>The mode of inheritance of the gene producing goitrous cretinism in 3 sibs was studied by means of clinical and laboratory investigations of the available family members (3 generations).<\/jats:p>\n        <jats:p>8 relatives (including the mother of the patients) had more or less distinct cretinoid features, and 3 (also including the mother) had a small goitre. Isotope studies revealed various patterns of thyroid hypoactivity in 9 family members and a trend towards hyperactivity in 2 (the mother and a sister of the patients). (In previous studies <jats:italic>Zondek et al.<\/jats:italic> 1959, 1961 <jats:italic>a, b,<\/jats:italic> 1963) a similar hyperactive pattern had been repeatedly found in 2 of the patients during prolonged therapy-free remissions, induced by shorttermed massive thyroid therapy.) None of the family members investigated showed any evidence of clinically manifest hypothyroidism or of the specific metabolic defect found in the patients (presumably an inability of the thyroid to convert the trapped iodide into organic iodine).<\/jats:p>\n        <jats:p>The distinguishing features setting this sibship apart from other similarly affected kindreds were (i) transmission of the metabolic defect by a presumably incompletely dominant gene, (ii) the great variability in the expression of the defective gene, culminating in a trend towards hyperactivity in 2 relatives, and (iii) the therapy-induced reversal of the metabolic defect to this hyperactive pattern in 2 of the patients.<\/jats:p>","DOI":"10.1530\/acta.0.0460103","type":"journal-article","created":{"date-parts":[[2008,12,15]],"date-time":"2008-12-15T20:29:45Z","timestamp":1229372985000},"page":"103-110","update-policy":"http:\/\/dx.doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":2,"title":["GENETIC STUDIES IN FAMILIAL GOITROUS CRETINISM"],"prefix":"10.1093","volume":"46","author":[{"given":"Hannah E.","family":"Leszynsky","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","container-title":["Acta Endocrinologica"],"original-title":[],"link":[{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/46\/1\/acta_46_1_014.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/46\/1\/acta_46_1_014.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T16:23:36Z","timestamp":1676391816000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/46\/1\/103\/6890269"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1964,5]]},"references-count":0,"journal-issue":{"issue":"1"},"URL":"https:\/\/doi.org\/10.1530\/acta.0.0460103","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published":{"date-parts":[[1964,5]]}}}