Neonatal Dyshormonogenetic Goiter with Hypothyroidism Associated with Novel Mutations in Thyroglobulin and SLC26A4 Gene
| العنوان: | Neonatal Dyshormonogenetic Goiter with Hypothyroidism Associated with Novel Mutations in Thyroglobulin and SLC26A4 Gene |
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| المؤلفون: | Claudia Viggiano, Gianluca Lista, Valeria Calcaterra, Luigina Spaccini, Rossella Lamberti, Gian Vincenzo Zuccotti, Sara Gatto |
| المصدر: | Pediatric Reports, Vol 13, Iss 29, Pp 210-215 (2021) Pediatric Reports |
| بيانات النشر: | MDPI AG, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | medicine.medical_specialty, endocrine system, Goiter, endocrine system diseases, medicine.medical_treatment, 030209 endocrinology & metabolism, Case Report, Thyroid function tests, Pediatrics, RJ1-570, congenital goiter, 03 medical and health sciences, 0302 clinical medicine, Thyroid dyshormonogenesis, primary congenital hypothyroidism, newborn, 030225 pediatrics, Internal medicine, medicine, biology, medicine.diagnostic_test, business.industry, Primary hypothyroidism, Pendrin, medicine.disease, thyroid dyshormonogenesis, Thyroid disorder, Endocrinology, Transgender hormone therapy, biology.protein, Medicine, Thyroglobulin, business |
| الوصف: | 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 > T, homozygous in the exon 45 of the thyroglobulin gene (TG) and c.1682 G > A heterozygous in exon 15 of the SLC26A4 gene (pendrin). Sanger sequencing of parents’ DNA samples revealed that the first mutation (c.7813 C > T) was inherited from both of them, while the second one (c.1682 G > 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. |
| اللغة: | English |
| تدمد: | 2036-7503 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f833724f105c0dfa36b1817b3dc29c5 https://www.mdpi.com/2036-7503/13/2/29 |
| Rights: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....1f833724f105c0dfa36b1817b3dc29c5 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 20367503 |
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