{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T23:34:29Z","timestamp":1773272069419,"version":"3.50.1"},"reference-count":30,"publisher":"The Endocrine Society","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1998,5,1]]},"abstract":"<jats:p>Loss-of-function mutations in the TSH receptor gene (TSH-R), usually leading to asymptomatic hyperthyrotropinemia, have been reported since 1995 in a total of eight pedigrees, with a pattern of transmission suggesting autosomal recessive inheritance. Although normal TSH secretion and action are not necessary for normal migration of the thyroid anlage, they are essential for normal thyroid growth and function. In keeping with this concept, we report a severely hypothyroid boy with a normally located but very hypoplastic and hypofunctional thyroid caused by TSH-R loss-of-function mutations. The propositus\u2019 maternal great aunt also had apparent athyreosis. The propositus had undetectable uptake on 99mpertechnetate scintigraphy but normal plasma thyroglobulin at 15 days of age. He was found to be a compound heterozygote for TSH-R mutations, with the maternal allele carrying a splicing mutation (G to C transversion at position +3 of the donor site of intron 6) and the other allele a deletion of two nucleotides (2 bases of codon 655 in exon 10). The great aunt\u2019s TSH-R was normal. We also report the sex ratio of hypothyroid newborns referred to our center since 1989 with apparent athyreosis (5 girls, 7 boys) and with ectopic thyroid tissue (41 girls, 15 boys). We conclude that different genetic and nongenetic mechanisms for athyreosis and ectopic thyroid are likely, and that these two distinct entities are themselves heterogeneous. Our results further show that inactivating mutations in TSH-R may account for some cases of apparent congenital athyreosis and should be suspected, especially if plasma thyroglobulin levels are normal.<\/jats:p>","DOI":"10.1210\/jcem.83.5.4771","type":"journal-article","created":{"date-parts":[[2014,1,8]],"date-time":"2014-01-08T17:02:55Z","timestamp":1389200575000},"page":"1771-1775","source":"Crossref","is-referenced-by-count":4,"title":["Apparent Congenital Athyreosis Contrasting with Normal Plasma Thyroglobulin Levels and Associated with Inactivating Mutations in the Thyrotropin Receptor Gene: Are Athyreosis and Ectopic Thyroid Distinct Entities?1"],"prefix":"10.1210","volume":"83","author":[{"given":"N.","family":"Gagne\u0301","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Ho\u0302pital Sainte-Justine, Universite\u0301 de Montre\u0301al (N.G., C.D., G.V.V.), Que\u0301bec, Canada H3T 1C5;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Parma","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics (J.P., G.V.), 1070 Brussels, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Deal","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Ho\u0302pital Sainte-Justine, Universite\u0301 de Montre\u0301al (N.G., C.D., G.V.V.), Que\u0301bec, Canada H3T 1C5;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Vassart","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics (J.P., G.V.), 1070 Brussels, Belgium"},{"name":"Institut de Recherche Interdisciplinaire (G.V.), Universite\u0301 Libre de Bruxelles, 1070 Brussels, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Van Vliet","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Ho\u0302pital Sainte-Justine, 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