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Case Reports
. 2021 Apr;99(4):604-606.
doi: 10.1111/cge.13902. Epub 2020 Dec 27.

Congenital hypothyroidism and hearing loss without inner ear malformation: Think TPO

Alban Ziegler  1 , Anne-Sophie Denommé-Pichon  2   3   4 , Sophie Boucher  5 , Nathalie Bouzamondo  1 , Estelle Colin  1 , Xavier Dieu  1 , Tanguy Jean Yves  6 , Natacha Bouhours  7 , Stéphanie Rouleau  7 , Régis Coutant  7 , Patrice Rodien  8 , Delphine Prunier  1 , Dominique Bonneau  1
Affiliations
Case Reports

Congenital hypothyroidism and hearing loss without inner ear malformation: Think TPO

Alban Ziegler et al. Clin Genet. 2021 Apr.
No abstract available

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References

REFERENCES

    1. Stoupa A, Chaabane R, Guériouz M, et al. Thyroid hypoplasia in congenital hypothyroidism associated with thyroid peroxidase mutations. Thyroid. 2018;28(7):941-944. https://doi.org/10.1089/thy.2017.0502.
    1. Pfarr N, Borck G, Turk A, et al. Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes. J Clin Endocrinol Metab. 2006;91(7):2678-2681. https://doi.org/10.1210/jc.2006-0142.
    1. Tenenbaum-Rakover Y, Mamanasiri S, Ris-Stalpers C, et al. Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis. Clin Endocrinol (Oxf). 2007;66(5):695-702. https://doi.org/10.1111/j.1365-2265.2007.02804.x.
    1. Chertok Shacham E, Ishay A, Irit E, Pohlenz J, Tenenbaum-Rakover Y. Minimally invasive follicular thyroid carcinoma developed in dyshormonogenetic multinodular goiter due to thyroid peroxidase gene mutation. Thyroid. 2012;22(5):542-546. https://doi.org/10.1089/thy.2011.0478.
    1. Wu J-Y, Shu S-G, Yang C-F, Lee C-C, Tsai F-J. Mutation analysis of thyroid peroxidase gene in Chinese patients with total iodide organification defect: identification of five novel mutations. J Endocrinol. 2002;172(3):627-635. https://doi.org/10.1677/joe.0.1720627.

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