{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T11:06:11Z","timestamp":1773745571787,"version":"3.50.1"},"reference-count":17,"publisher":"S. Karger AG","issue":"4","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":"<jats:p>The monocarboxylate transporter 8 &lt;i&gt;(MCT8)&lt;\/i&gt; gene, located on chromosome Xq13.2, encodes a thyroid hormone transporter that is involved in triiodothyronine (T3) uptake into central neurons. &lt;i&gt;MCT8&lt;\/i&gt; mutations cause an X-linked syndromic disorder known as Allan-Herndon-Dudley syndrome (AHDS) that is characterized by severe psychomotor delays, abnormal thyroid function, and hypomyelinated leukodystrophies. We identified 2 AHDS patients with developmental delays, truncal hypotonia, and spastic paraplegia. These patients presented with psychomotor retardation and characteristic thyroid function abnormalities, such as elevated T3 and low T4 levels. Direct &lt;i&gt;MCT8&lt;\/i&gt; sequencing identified heterozygous mutations in each patient: p.I114N and p.A224V, respectively. Because it is difficult to suspect AHDS solely according to neurological features, thyroid function, including the T3 level, should be screened in male patients with X-linked mental retardation. Although the clinical features of hypothyroidism cannot be improved by only administering levothyroxine treatment, early diagnosis, management, and appropriate genetic counseling should be provided to at-risk families.<\/jats:p>","DOI":"10.1159\/000371466","type":"journal-article","created":{"date-parts":[[2015,4,15]],"date-time":"2015-04-15T21:02:11Z","timestamp":1429131731000},"page":"288-292","source":"Crossref","is-referenced-by-count":16,"title":["Clinical and Endocrine Features of Two Allan-Herndon-Dudley Syndrome Patients with Monocarboxylate Transporter 8 Mutations"],"prefix":"10.1159","volume":"83","author":[{"given":"Ja Hye","family":"Kim","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoo-Mi","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mi-Sun","family":"Yum","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin-Ho","family":"Choi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beom Hee","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gu-Hwan","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Han-Wook","family":"Yoo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2015,4,15]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1210\/en.2008-1518"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.7.1133"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1086\/380999"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-2570"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/257018a0"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1210\/er.22.4.451"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M306933200"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1210\/en.142.10.4339"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1172\/JCI114790"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.tem.2007.11.003"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1177\/0883073812450944"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2013.10.009"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21579"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-007-0589-6"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1210\/en.2006-0390"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-2719"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-2719"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/371466","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/371466","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:12:59Z","timestamp":1745431979000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000371466"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":17,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2015,5,1]]},"published-print":{"date-parts":[[2015,5,13]]}},"URL":"https:\/\/doi.org\/10.1159\/000371466","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.5241748","asserted-by":"subject"}]},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015]]}}}