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Eighteen-years follow-up of congenital hypothyroidism by TSHR gene p.Arg109Gln and p.Arg450His variants

Watanabe, Daisuke Yagasaki, Hideaki Mitsui, Yumiko Inukai, Takeshi 名古屋大学

2023.05

概要

Congenital hypothyroidism (CH) is a common heterogeneous endocrine disorder, of which
approximately 20% of cases are caused by a single gene variant. The thyroid-stimulating hormone
receptor gene (TSHR) variants majorly contribute to the development of nongoitrous CH.1 Several
studies have investigated the phenotypes associated with specific TSHR variants. However, only
a few reports have focused on the long-term follow-up of patients with CH. ...

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参考文献

1 Sugisawa C, Abe K, Sunaga Y, Taniyama M, Hasegawa T, Narumi S. Identification of compound

heterozygous TSHR mutations (R109Q and R450H) in a patient with nonclassic TSH resistance and functional characterization of the mutant receptors. Clin Pediatr Endocrinol. 2018;27(3):123–130. doi:10.1297/

cpe.27.123.

2 Clifton-Bligh RJ, Gregory JW, Ludgate M, et al. Two novel mutations in the thyrotropin (TSH) receptor

gene in a child with resistance to TSH. J Clin Endocrinol Metab. 1997;82(4):1094–1100. doi:10.1210/

jcem.82.4.3863.

3 Camilot M, Teofoli F, Gandini A, et al. Thyrotropin receptor gene mutations and TSH resistance:

variable expressivity in the heterozygotes. Clin Endocrinol (Oxf). 2005;63(2):146–151. doi:10.1111/j.13652265.2005.02314.x.

4 Rapa A, Monzani A, Moia S, et al. Subclinical hypothyroidism in children and adolescents: a wide range

of clinical, biochemical, and genetic factors involved. J Clin Endocrinol Metab. 2009;94(7):2414–2420.

doi:10.1210/jc.2009-0375.

5 Nicoletti A, Bal M, De Marco G, et al. Thyrotropin-stimulating hormone receptor gene analysis in pediatric

patients with non-autoimmune subclinical hypothyroidism. J Clin Endocrinol Metab. 2009;94(11):4187–4194.

doi:10.1210/jc.2009-0618.

6 Fu C, Wang J, Luo S, et al. Next-generation sequencing analysis of TSHR in 384 Chinese subclinical

congenital hypothyroidism (CH) and CH patients. Clin Chim Acta. 2016;462:127–132. doi:10.1016/j.

cca.2016.09.007.

7 Weber G, Vigone MC, Stroppa L, Chiumello G. Thyroid function and puberty. J Pediatr Endocrinol Metab.

2003;16(Suppl 2):253–257.

8 Narumi S, Muroya K, Abe Y, et al. TSHR mutations as a cause of congenital hypothyroidism in Japan: a

population-based genetic epidemiology study. J Clin Endocrinol Metab. 2009;94(4):1317–1323. doi:10.1210/

jc.2008-1767.

9 Watanabe D, Hasebe Y, Kasai S, et al. PTPN11 c.853T>C (p.Phe285Leu) mutation in Noonan syndrome

with chylothorax. Nagoya J Med Sci. 2022;84(4):871–876. doi:10.18999/nagjms.84.4.871.

References End

Nagoya J. Med. Sci. 85. 369–374, 2023

374

doi:10.18999/nagjms.85.2.369

...

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