Concurrent THRB and DUOX2 variants in a patient detected via newborn screening for congenital hypothyroidism: a case of resistance to thyroid hormone-Reference-Cited by-同舟云学术

Concurrent THRB and DUOX2 variants in a patient detected via newborn screening for congenital hypothyroidism: a case of resistance to thyroid hormone

Published:2024 Issue:2 Volume:33 Page:94-100
ISSN:0918-5739
Container-title:Clinical Pediatric Endocrinology
language:en
Short-container-title:Clin Pediatr Endocrinol

Author:

Hatano Megumi¹²,Tanase-Nakao Kanako³,Uehara Erika³,Iwano Reiko⁴,Muroya Koji⁵,Narumi Satoshi³⁶

Affiliation:

1. Department of Pediatrics, St. Luke’s International Hospital, Tokyo, Japan

2. Department of Molecular Oncology, Graduate School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan

3. Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan

4. Clinical Research Institute, Kanagawa Children’s Medical Center, Yokohama, Japan

5. Department of Endocrinology and Metabolism, Kanagawa Children’s Medical Center, Yokohama, Japan

6. Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan

Publisher

Japanese Society for Pediatric Endocrinology

Link

https://www.jstage.jst.go.jp/article/cpe/33/2/33_2023-0059/_pdf

Reference34 articles.

1. 1. Refetoff, S, DeWind, LT, DeGroot, LJ. Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone. J Clin Endocrinol Metab 1967;27: 279–94.

2. 2. Gershengorn, MC, Weintraub, BD. Thyrotropin-induced hyperthyroidism caused by selective pituitary resistance to thyroid hormone. A new syndrome of “inappropriate secretion of TSH”. J Clin Invest 1975;56: 633–42.

3. 3. Sun, H, Cao, L, Zheng, R, Xie, S, Liu, C. Update on resistance to thyroid hormone syndromeβ. Ital J Pediatr 2020;46: 168.

4. 4. Weiss, RE, Chyna, B, Duell, PB, Hayashi, Y, Sunthornthepvarakul, T, Refetoff, S. A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone. J Clin Endocrinol Metab 1994;78: 1253–6.

5. 5. Dumitrescu, AM, Refetoff, S. Impaired sensitivity to thyroid hormone: defects of transport, metabolism and action. In: Kopp P, editor. Thyroid Disease Manager. Endotext; 2000. Updated April 23, 2023. https://www.endotext.org/.