Goiter in a 6-year-old patient with novel thyroglobulin gene variant (Gly145Glu) causing intracellular thyroglobulin transport disorder: Correlation between goiter size and the free T3 to free T4 ratio-Reference-Cited by-同舟云学术

Goiter in a 6-year-old patient with novel thyroglobulin gene variant (Gly145Glu) causing intracellular thyroglobulin transport disorder: Correlation between goiter size and the free T3 to free T4 ratio

Published:2022 Issue:3 Volume:31 Page:185-191
ISSN:0918-5739
Container-title:Clinical Pediatric Endocrinology
language:en
Short-container-title:Clin Pediatr Endocrinol

Author:

Matsuyama Misayo¹,Sawada Hirotake²,Inoue Shinobu³,Hishinuma Akira⁴,Sekiya Ryo⁵,Sato Yuichiro⁶,Moritake Hiroshi¹

Affiliation:

1. Division of Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan

2. Department of Fundamental Nursing, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan

3. Division of Pediatrics, National Hospital Organization Miyazaki Higashi Hospital, Miyazaki, Japan

4. Department of Infection Control and Clinical Laboratory Medicine, Dokkyo Medical University, Mibu, Japan

5. Division of Surgery, Miyazaki Zenjinkai Hospital, Miyazaki, Japan

6. Departoment of Diagnostic Pathology, University of Miyazaki Hospital, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan

Publisher

Japanese Society for Pediatric Endocrinology

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Link

https://www.jstage.jst.go.jp/article/cpe/31/3/31_2022-0006/_pdf

Reference20 articles.

1. 1. Di Jeso, B, Arvan, P. Thyroglobulin from molecular and cellular biology to clinical endocrinology. Endocr Rev 2016;37: 2–36.

2. 2. Targovnik, HM, Esperante, SA, Rivolta, CM. Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations. Mol Cell Endocrinol 2010;322: 44–55.

3. 3. Ieiri, T, Cochaux, P, Targovnik, HM, Suzuki, M, Shimoda, S, Perret, J, et al. A 3′ splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism. J Clin Invest 1991;88: 1901–5.

4. 4. Pio, MG, Molina, MF, Siffo, S, Chiesa, A, Rivolta, CM, Targovnik, HM. A novel mutation in intron 11 donor splice site, responsible of a rare genotype in thyroglobulin gene by altering the pre-mRNA splincing process. Cell expression and bioinformatic analysis. Mol Cell Endocrinol 2021;522: 111124.

5. 5. Hu, X, Chen, R, Fu, C, Fan, X, Wang, J, Qian, J, et al. Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism. Mol Cell Endocrinol 2016;423: 60–6.