{"title":"Airway compression in a neonate with thyroid dyshormonogenesis due to SLC26A7 defect.","authors":"Yasuhiro Hirano, Kazuhiro Shimura, Marie Mitani-Konno, Naoya Fukushima, Tomonobu Hasegawa, Satoshi Narumi","doi":"10.1093/ejendo/lvaf198","DOIUrl":null,"url":null,"abstract":"<p><p>SLC26A7 encodes an apical iodide transporter in thyroid follicular cells, and causes, when mutated, congenital hypothyroidism (CH). We report a patient diagnosed with goitrous CH, who initially presented with neck enlargement and inspiratory stridor on day 3 of life. Levothyroxine therapy resulted in prompt improvement in upper airway compression, and surgical interventions were avoided. The levothyroxine dosage per body weight was gradually reduced to 0.5 μg/kg/day by age 11 months. Genomic sequencing of CH-related genes identified compound heterozygous protein-truncating SLC26A7 variants: c.612_613dup, p.Ser207Tyrfs*31 and c.1498C>T, p.Gln500*. We emphasize the importance of considering genetic etiologies in cases of neonatal goiter with upper airway compression, particularly in the absence of exposure to excessive iodine or antithyroid drugs.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":""},"PeriodicalIF":5.2000,"publicationDate":"2025-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"European Journal of Endocrinology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1093/ejendo/lvaf198","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
引用次数: 0
Abstract
SLC26A7 encodes an apical iodide transporter in thyroid follicular cells, and causes, when mutated, congenital hypothyroidism (CH). We report a patient diagnosed with goitrous CH, who initially presented with neck enlargement and inspiratory stridor on day 3 of life. Levothyroxine therapy resulted in prompt improvement in upper airway compression, and surgical interventions were avoided. The levothyroxine dosage per body weight was gradually reduced to 0.5 μg/kg/day by age 11 months. Genomic sequencing of CH-related genes identified compound heterozygous protein-truncating SLC26A7 variants: c.612_613dup, p.Ser207Tyrfs*31 and c.1498C>T, p.Gln500*. We emphasize the importance of considering genetic etiologies in cases of neonatal goiter with upper airway compression, particularly in the absence of exposure to excessive iodine or antithyroid drugs.
期刊介绍：
European Journal of Endocrinology is the official journal of the European Society of Endocrinology. Its predecessor journal is Acta Endocrinologica.
The journal publishes high-quality original clinical and translational research papers and reviews in paediatric and adult endocrinology, as well as clinical practice guidelines, position statements and debates. Case reports will only be considered if they represent exceptional insights or advances in clinical endocrinology.
Topics covered include, but are not limited to, Adrenal and Steroid, Bone and Mineral Metabolism, Hormones and Cancer, Pituitary and Hypothalamus, Thyroid and Reproduction. In the field of Diabetes, Obesity and Metabolism we welcome manuscripts addressing endocrine mechanisms of disease and its complications, management of obesity/diabetes in the context of other endocrine conditions, or aspects of complex disease management. Reports may encompass natural history studies, mechanistic studies, or clinical trials.
Equal consideration is given to all manuscripts in English from any country.
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