{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T19:02:49Z","timestamp":1789758169808,"version":"4.0.1"},"reference-count":32,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"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":[[2018]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Background:&lt;\/i&gt;&lt;\/b&gt; Fetal goiter is only rarely observed in pregnant women without autoimmune thyroid disorders, and there is no epidemiological data on its pathophysiology. Dual oxidase maturation factor 2 (DUOXA2), together with dual oxidase 2, serves pivotal roles in thyroid hormone biosynthesis. To date, all reported patients with &lt;i&gt;DUOXA2&lt;\/i&gt; mutations were diagnosed postnatally through newborn screening for congenital hypothyroidism. &lt;b&gt;&lt;i&gt;Case Report:&lt;\/i&gt;&lt;\/b&gt; The mother of a male fetus presented at 33 + 4 gestational weeks (GW) with a fetal goiter and polyhydramnios. Cordocentesis revealed fetal hypothyroidism (TSH 253.4 mU\/L, FT&lt;sub&gt;4&lt;\/sub&gt; 0.29 ng\/dL). Intra-amniotic levothyroxine injections were performed at GW 34 + 3 and 35 + 3. The patient was born after spontaneous vaginal delivery at 35 + 6 GW without obstetrical complications. He was treated with levothyroxine until the age of 6 years when reevaluation of his thyroid functions showed normal results (TSH 1.32 mU\/L, FT&lt;sub&gt;4&lt;\/sub&gt; 1.81 ng\/dL). Eleven causative genes of CH, including &lt;i&gt;DUOXA2&lt;\/i&gt;, were analyzed with use of a next-generation sequencing technique. &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt; A next-generation sequencing-based mutation screen led us to find that he was compound heterozygous for 2 previously reported&lt;i&gt;&lt;\/i&gt; nonsense &lt;i&gt;DUOXA2&lt;\/i&gt; mutations (p.[Tyr138*];[Tyr246*]). &lt;b&gt;&lt;i&gt;Conclusion:&lt;\/i&gt;&lt;\/b&gt; The present case not only illustrates the phenotypic diversity of &lt;i&gt;DUOXA2&lt;\/i&gt; mutation carriers but also implies that DUOXA2 is important in prenatal thyroid hormone production.<\/jats:p>","DOI":"10.1159\/000491104","type":"journal-article","created":{"date-parts":[[2018,8,16]],"date-time":"2018-08-16T21:01:22Z","timestamp":1534453282000},"page":"132-137","source":"Crossref","is-referenced-by-count":9,"title":["Fetal Goitrous Hypothyroidism and Polyhydramnios in a Patient with Compound Heterozygous &lt;b&gt;&lt;i&gt;DUOXA2&lt;\/i&gt;&lt;\/b&gt; 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