{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T23:47:04Z","timestamp":1789516024764,"version":"build-2803163510"},"reference-count":20,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2021,5,2]],"date-time":"2021-05-02T00:00:00Z","timestamp":1619913600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Reports"],"abstract":"<jats:p>Congenital goiter is an uncommon cause of neck swelling and it can be associated with hypothyroidism. We discuss a case of primary hypothyroidism with goiter presenting at birth. Ultrasound showed the enlargement of the gland and thyroid function tests detected marked hypothyroidism. Genetic analysis via next generation sequencing (NGS) was performed finding two mutations associated with thyroid dyshormonogenesis: c.7813 C &gt; T, homozygous in the exon 45 of the thyroglobulin gene (TG) and c.1682 G &gt; A heterozygous in exon 15 of the SLC26A4 gene (pendrin). Sanger sequencing of parents\u2019 DNA samples revealed that the first mutation (c.7813 C &gt; T) was inherited from both of them, while the second one (c.1682 G &gt; A) was inherited from the mother. Hormone replacement therapy was started, following which a gradual decrease in the size of the goiter was seen with the normalization of hormonal levels. Normal infant growth status and neurological development were recorded during follow-up. Neonatal dyshormonogenetic goiter with hypothyroidism may represent an unusual cause of neonatal neck mass. Early identification and hormone replacement therapy are crucial for a better neurodevelopmental outcome. Genetic analysis is mandatory in order to reach a specific diagnosis and to elucidate new patterns of thyroid disorder.<\/jats:p>","DOI":"10.3390\/pediatric13020029","type":"journal-article","created":{"date-parts":[[2021,5,2]],"date-time":"2021-05-02T08:05:21Z","timestamp":1619942721000},"page":"210-215","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Neonatal Dyshormonogenetic Goiter with Hypothyroidism Associated with Novel Mutations in Thyroglobulin and SLC26A4 Gene"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2137-5974","authenticated-orcid":false,"given":"Valeria","family":"Calcaterra","sequence":"first","affiliation":[{"name":"Pediatric and Adolescent Unit, Department of Internal Medicine, University of Pavia, 27100 Pavia, Italy"},{"name":"Pediatric Unit, Department of Pediatrics, \u201cVittore Buzzi\u201d Children\u2019s Hospital, 20154 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rossella","family":"Lamberti","sequence":"additional","affiliation":[{"name":"Pediatric Unit, Department of Pediatrics, \u201cVittore Buzzi\u201d Children\u2019s Hospital, 20154 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Viggiano","sequence":"additional","affiliation":[{"name":"Pediatric Unit, Department of Pediatrics, \u201cVittore Buzzi\u201d Children\u2019s Hospital, 20154 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Gatto","sequence":"additional","affiliation":[{"name":"Neonatal Pathology and Neonatal Intensive Care Unit, Department of Pediatrics, \u201cV. Buzzi\u201d Children\u2019s Hospital, University of Milan, 20154 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigina","family":"Spaccini","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Department of Obstetrics and Gynecology, \u201cV. Buzzi\u201d Children\u2019s Hospital, University of Milan, 20154 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianluca","family":"Lista","sequence":"additional","affiliation":[{"name":"Neonatal Pathology and Neonatal Intensive Care Unit, Department of Pediatrics, \u201cV. Buzzi\u201d Children\u2019s Hospital, University of Milan, 20154 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2795-9874","authenticated-orcid":false,"given":"Gianvincenzo","family":"Zuccotti","sequence":"additional","affiliation":[{"name":"Pediatric Unit, Department of Pediatrics, \u201cVittore Buzzi\u201d Children\u2019s Hospital, 20154 Milan, Italy"},{"name":"Department of Biomedical and Clinical Science \u201cL. Sacco\u201d, University of Milan, 20157 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,5,2]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1239","DOI":"10.1148\/rg.2018170165","article-title":"US of Pediatric Superficial Masses of the Head and Neck","volume":"38","author":"Bansal","year":"2018","journal-title":"Radiographics"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1542\/pir.35.8.336","article-title":"Hypothyroidism","volume":"35","author":"Diaz","year":"2014","journal-title":"Pediatr. Rev."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1159\/000353387","article-title":"Conservatively managed fetal goiter: An alternative to in utero therapy","volume":"34","author":"Blumenfeld","year":"2013","journal-title":"Fetal Diagn. 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