{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T01:40:08Z","timestamp":1745458808289,"version":"3.40.4"},"reference-count":13,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2008,1,1]],"date-time":"2008-01-01T00:00:00Z","timestamp":1199145600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2008,1,1]],"date-time":"2008-01-01T00:00:00Z","timestamp":1199145600000},"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":[[2008]]},"abstract":"<i>Aims:<\/i> To investigate the frequency of thyroid dysgenesis (TD) in first-degree relatives of TD cases. <i>Methods:<\/i> 244 first-degree relatives of 82 TD cases were screened by thyroid ultrasound (USG), T<sub>4<\/sub>, fT<sub>4<\/sub> and TSH. USG was also performed in 220 unrelated, age- and sex-matched healthy controls to obtain normative data for thyroid volumes. <i>Results:<\/i> Specific diagnoses of indexes were 35 ectopia, 22 athyreosis, 14 severe hypoplasia, 8 hypoplasia, and 3 hemiagenesis\/asymmetric hypoplasia. In 5 of 77 families (6.5%), there were 2 cases with known symptomatic TD. A total of 10 cases made familial symptomatic TD ratio 12% (10\/82) in our cohort. Screening of 244 asymptomatic family members did not reveal new cases with overt hypothyroidism. However, low thyroid volume in 15 and slightly elevated TSH in 6 family members and both in 1 family member were detected (7.4% for low thyroid volume, 3.2% for high TSH). Thus, the ratio of affected (symptomatic and asymptomatic) family members among families of TD cases was found to be 8.7%. <i>Conclusions:<\/i> 12% of TD cases are familial in our cohort. Screening of asymptomatic family members of TD revealed an additional 7.4% mild hypoplasia and 3.2% hyperthyrotropinemia without overt hypothyroidism which points out the importance of genetic factors in pathogenesis.<\/jats:p>","DOI":"10.1159\/000161863","type":"journal-article","created":{"date-parts":[[2008,10,27]],"date-time":"2008-10-27T15:47:05Z","timestamp":1225122425000},"page":"329-339","source":"Crossref","is-referenced-by-count":3,"title":["Screening of Parents and Siblings of Patients with Thyroid Dysgenesis by Thyroid Function Tests and Ultrasound"],"prefix":"10.1159","volume":"70","author":[{"given":"Elif","family":"Karakoc","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serap","family":"Turan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ihsan","family":"Akpinar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pinar","family":"Isguven","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erdal","family":"Adal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Goncag\u00fcl","family":"Haklar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fuat","family":"Dede","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdullah","family":"Bereket","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2008,10,27]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.86.5.2009"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.87.2.575"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1469-1809.1994.tb00729.x"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1056%2FNEJM200008103430614"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2265.2005.02314.x"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1210%2Fer.2003-0028"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1007%2Fs00431-003-1286-8"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1179%2F027249302125002047"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1089%2Fthy.2007.0059"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.clinbiochem.2004.03.011"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1159%2F000020674"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1523-1747.2002.19617.x"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1210%2Fjcem-56-2-242"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/161863","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/161863","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T00:59:25Z","timestamp":1745456365000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000161863"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008]]},"references-count":13,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2008,12,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000161863","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"type":"print","value":"1663-2818"},{"type":"electronic","value":"1663-2826"}],"subject":[],"published":{"date-parts":[[2008]]}}}