{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T21:20:01Z","timestamp":1761513601298},"reference-count":19,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,3,8]],"date-time":"2015-03-08T00:00:00Z","timestamp":1425772800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,5]]},"abstract":"<jats:sec><jats:label \/><jats:p>Allan\u2013Herndon\u2013Dudley syndrome (AHDS, MIM 300523) is an X\u2010linked neurodegenerative disorder characterized by intellectual disability, severe hypotonia, diminished muscle mass, and progressive spastic paraplegia. All affected males have pathognomonic thyroid profiles with an elevated T<jats:sub>3<\/jats:sub>, low\u2010normal free T<jats:sub>4<\/jats:sub>, and normal TSH. Mutations in the monocarboxylate transporter 8 (MCT8) gene, <jats:italic>SLC16A2<\/jats:italic>, have been found to be causative. Here, we describe a proband whose extensive evaluation and ultimate diagnosis of AHDS unmasked three previously undiagnosed generations of affected individuals in one family. This case illustrates the need for clinicians to consider obtaining full thyroid studies on individuals with the non\u2010specific findings of severe hypotonia, failure to thrive, and gross motor delay. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36970","type":"journal-article","created":{"date-parts":[[2015,3,9]],"date-time":"2015-03-09T04:49:13Z","timestamp":1425876553000},"page":"1117-1120","source":"Crossref","is-referenced-by-count":6,"title":["A 7\u2010month\u2010old male with Allan\u2010Herndon\u2010Dudley syndrome and the power of T3"],"prefix":"10.1002","volume":"167","author":[{"given":"Katherine G.","family":"Langley","sequence":"first","affiliation":[{"name":"Department of Pediatrics Eastern Virginia Medical School Norfolk Virginia"},{"name":"Division of Medical Genetics and Metabolism Children's Hospital of The King's Daughters Norfolk Virginia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven","family":"Trau","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Eastern Virginia Medical School Norfolk Virginia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lora J. H.","family":"Bean","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Emory University Atlanta Georgia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alekhya","family":"Narravula","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Emory University Atlanta Georgia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samantha A.","family":"Schrier Vergano","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Eastern Virginia Medical School Norfolk Virginia"},{"name":"Division of Medical Genetics and Metabolism Children's Hospital of The King's Daughters Norfolk Virginia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,3,8]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"325","article-title":"Some examples of the inheritance of mental deficiency: Apparently sex\u2010linked idiocy and microcephaly","volume":"48","author":"Allan W","year":"1944","journal-title":"Am J Ment Defic"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2013.10.009"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430173"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1530\/eje.1.01980"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.08.001"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/380999"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1210\/en.2006-0390"},{"key":"e_1_2_7_9_1","doi-asserted-by":"crossref","unstructured":"Fliers E Alkemade A Wiersinga WM and Swaab DF. 2006. Hypothalamic thyroid hormone feedback in health and disease. In Progress in Brain Research E.F.M.A.H.D.F.S.E.J.W.v.S. A. Kalsbeek and R.M. Buijs eds. (Elsevier) pp 189\u2013207.","DOI":"10.1016\/S0079-6123(06)53011-0"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(04)17226-7"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncpendmet0262"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.66"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1159\/000095805"},{"key":"e_1_2_7_14_1","unstructured":"Lenzner S Rosenkranz M Grueters A Biebermann H Chelly J Moraine C Frijns J Van Bokhoven H Visser T and Ropers H. 2004. Severe X\u2010linked mental retardation caused by mutations in the gene for the thyroid hormone transporter MCT8 (abstract C32). In European Human Genetics Conference. 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