{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,4]],"date-time":"2026-03-04T20:38:43Z","timestamp":1772656723460,"version":"3.50.1"},"reference-count":24,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2006,3,1]],"date-time":"2006-03-01T00:00:00Z","timestamp":1141171200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2006,5]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p><jats:bold>Objective\u2002<\/jats:bold> Congenital primary hypothyroidism occurs in 1 of 4000 births. Whereas the majority of the cases are due to developmental defects of the thyroid gland, 20% carry a defect in thyroid hormonogenesis. We report a Turkish boy who had goitrous hypothyroidism due to a mutation in the thyroid peroxidase (TPO) gene.<\/jats:p><jats:p><jats:bold>Design\u2002<\/jats:bold> The TPO gene was sequenced directly from genomic DNA and cDNA which was transcribed from three RNA samples harvested from different parts of the patient's excised thyroid gland.<\/jats:p><jats:p><jats:bold>Patient\u2002<\/jats:bold> The boy was thyroidectomized because of continuing growth of his thyroid gland and development of multiple nodes suspected of malignancy by ultrasound examination. Histopathological examination verified a dyshormonogenetic goiter with multiple follicular adenomas.<\/jats:p><jats:p><jats:bold>Results\u2002<\/jats:bold> The patient had a novel homozygous 10\u2010bp deletion of the TPO gene at position 2812 in exon 16. This frame shift mutation results in a severely altered intracellular part of the protein. The deletion identified in leucocyte DNA was also found in thyroid tissue cDNA \u2013 so that instability of the transcript or a splicing defect was excluded. Both unaffected parents were heterozygous carriers of the mutation whereas 50 healthy individuals of the same ethnic background did not harbour the mutation.<\/jats:p><jats:p><jats:bold>Conclusions\u2002<\/jats:bold> The identified TPO gene deletion is the first mutation coding for an inactive TPO molecule, which has a severely altered intracellular segment. Because the most likely reason for the enlarging goiter was poor compliance of the patient, this report underlines the importance of a careful and regular follow\u2010up of patients with dyshormonogenesis.<\/jats:p>","DOI":"10.1111\/j.1365-2265.2006.02500.x","type":"journal-article","created":{"date-parts":[[2006,3,1]],"date-time":"2006-03-01T10:44:39Z","timestamp":1141209879000},"page":"514-518","source":"Crossref","is-referenced-by-count":18,"title":["Congenital primary hypothyroidism with subsequent adenomatous goiter in a Turkish patient caused by a homozygous 10\u2010bp deletion in the thyroid peroxidase (TPO) gene"],"prefix":"10.1111","volume":"64","author":[{"given":"Nicole","family":"Pfarr","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas J.","family":"Musholt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petra B.","family":"Musholt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Brzezinska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joachim","family":"Pohlenz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,3]]},"reference":[{"key":"e_1_2_7_2_2","volume-title":"Inherited Disorders of The Thyroid System","author":"Medeiros\u2010Neto G.","year":"1994"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0300-9084(99)80097-2"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa012752"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1297-411"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.7.1105"},{"key":"e_1_2_7_7_2","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1210\/edrv-14-2-165","article-title":"Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism","volume":"14","author":"Medeiros\u2010Neto G.","year":"1993","journal-title":"Endocrine Reviews"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.024158"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1159\/000132538"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.84.16.5555"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1210\/mend-1-11-856"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/15.16.6735"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1089\/105072503768499671"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1089\/105072502320908277"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-020153"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.2004.17.2.231"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2004.05.013"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1530\/eje.1.01826"},{"key":"e_1_2_7_19_2","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2005.15.1085"},{"key":"e_1_2_7_20_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.83.11.4162"},{"key":"e_1_2_7_21_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.84.3.1061"},{"key":"e_1_2_7_22_2","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(19910415)67:8<2191::AID-CNCR2820670831>3.0.CO;2-B"},{"key":"e_1_2_7_23_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM195807312590505"},{"key":"e_1_2_7_24_2","doi-asserted-by":"publisher","DOI":"10.1017\/S0022215100085571"},{"key":"e_1_2_7_25_2","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj1954.34.955"}],"container-title":["Clinical Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1365-2265.2006.02500.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1365-2265.2006.02500.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,13]],"date-time":"2023-10-13T19:22:56Z","timestamp":1697224976000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1365-2265.2006.02500.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,3]]},"references-count":24,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2006,5]]}},"alternative-id":["10.1111\/j.1365-2265.2006.02500.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1365-2265.2006.02500.x","archive":["Portico"],"relation":{},"ISSN":["0300-0664","1365-2265"],"issn-type":[{"value":"0300-0664","type":"print"},{"value":"1365-2265","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,3]]}}}