Airway compression in a neonate with thyroid dyshormonogenesis due to SLC26A7 defect

Yasuhiro Hirano; Kazuhiro Shimura; Marie Mitani-Konno; Naoya Fukushima; Tomonobu Hasegawa; Satoshi Narumi

doi:10.1093/ejendo/lvaf198

Airway compression in a neonate with thyroid dyshormonogenesis due to SLC26A7 defect

Yasuhiro Hirano
, Kazuhiro Shimura
, Marie Mitani-Konno
, Naoya Fukushima
, Tomonobu Hasegawa
, Satoshi Narumi

Department of Pediatrics

Research output: Contribution to journal › Article › peer-review

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*.

Original language	English
Pages (from-to)	K16-K21
Journal	European Journal of Endocrinology
Volume	193
Issue number	4
DOIs	https://doi.org/10.1093/ejendo/lvaf198
Publication status	Published - 2025 Oct 1

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

SLC26A7
airway compression
congenital hypothyroidism
goiter

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Endocrinology

Access to Document

10.1093/ejendo/lvaf198

Cite this

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title = "Airway compression in a neonate with thyroid dyshormonogenesis due to SLC26A7 defect",

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*.",

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AU - Hirano, Yasuhiro

AU - Shimura, Kazuhiro

AU - Mitani-Konno, Marie

AU - Fukushima, Naoya

AU - Hasegawa, Tomonobu

AU - Narumi, Satoshi

N1 - Publisher Copyright: © The Author(s) 2025. Published by Oxford University Press on behalf of European Society of Endocrinology.

PY - 2025/10/1

Y1 - 2025/10/1

N2 - 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*.

AB - 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*.

KW - SLC26A7

KW - airway compression

KW - congenital hypothyroidism

KW - goiter

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UR - https://www.scopus.com/pages/publications/105018707701#tab=citedBy

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ER -

Airway compression in a neonate with thyroid dyshormonogenesis due to SLC26A7 defect

Abstract

UN SDGs

Keywords

ASJC Scopus subject areas

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