{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T18:53:09Z","timestamp":1692730389007},"reference-count":0,"publisher":"Association of Basic Medical Sciences of FBIH","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Bosn J of Basic Med Sci"],"abstract":"<jats:p>Primary\u00a0congenital\u00a0hypothyroidism\u00a0is a common preventable cause of mental retardation. Neonatal thyroid\u00a0screening\u00a0is highly successful in early diagnosis and the improvement of developmental prognosis in the hypothyroid neonate. However, rarely cases could be missed, so doctors must be aware of the earl symptoms and signs of\u00a0hypothyroidism. Therefore, the purpose of this study was to emphasize the presenting\u00a0clinical\u00a0features of\u00a0primary\u00a0congenital\u00a0hypothyroidism\u00a0at the age of diagnosis. The study population included 17 children with\u00a0primary\u00a0congenital\u00a0hypothyroidism\u00a0who attended the Department of Pediatrics, University\u00a0Clinical\u00a0Center Tuzla between 1986 and 1999. The diagnosis of all patients was confirmed by serum thyroid function tests (T4 and TSH). Of the 17 patients 10 (58.8%) were diagnosed in the first three months of life and 3 of them (17.6%) between fourth and sixth month of life. Four children (23.5%) were diagnosed after the age of six months. In the first three months of life hypothermia, constipation, jaundice, poor feeding, hoarse cry, macroglossia and hypoactivity were the moste common symptoms. Among the 17 patients with\u00a0primary\u00a0congenital\u00a0hypothyroidism\u00a05 of them (29.4 %) were diagnosed to have disgenetic thyroid tissue and 12 (70.6%) as having dyshormonogenesis. TSH and T4 levels were higher in patients in whom thyroid tissue was dysgenetic as comapared with those with dyshormonogenesis but the difference was not statistically significant (p &gt; 0.05). Now it is expected that neonatal\u00a0screening\u00a0program in Bosnia and Herzegovina Federation will contribute to the detection of\u00a0primary\u00a0congenital\u00a0hypothyroidism\u00a0in early days of life. However, until an effective\u00a0screening\u00a0test is not yet routine in whole country, paediatricians should consider the diagnosis of\u00a0hypothyroidism\u00a0whenever it is clinically suggested.<\/jats:p>","DOI":"10.17305\/bjbms.2005.3226","type":"journal-article","created":{"date-parts":[[2018,5,30]],"date-time":"2018-05-30T23:17:01Z","timestamp":1527722221000},"page":"26-29","source":"Crossref","is-referenced-by-count":3,"title":["Clinical presentation of primary congenital hypothyroidism: experience before mass screening"],"prefix":"10.17305","volume":"5","author":[{"given":"Husref","family":"Tahirovi\u0107","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alma","family":"Toromanovi\u0107","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"6922","published-online":{"date-parts":[[2005,11,20]]},"container-title":["Bosnian Journal of Basic Medical Sciences"],"original-title":[],"link":[{"URL":"https:\/\/www.bjbms.org\/ojs\/index.php\/bjbms\/article\/download\/3226\/901","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.bjbms.org\/ojs\/index.php\/bjbms\/article\/download\/3226\/901","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,1,6]],"date-time":"2020-01-06T20:34:44Z","timestamp":1578342884000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.bjbms.org\/ojs\/index.php\/bjbms\/article\/view\/3226"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,11,20]]},"references-count":0,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2018,3,5]]}},"URL":"https:\/\/doi.org\/10.17305\/bjbms.2005.3226","relation":{},"ISSN":["1840-4812","1512-8601"],"issn-type":[{"value":"1840-4812","type":"electronic"},{"value":"1512-8601","type":"print"}],"subject":[],"published":{"date-parts":[[2005,11,20]]}}}