Results 1 to 10 of about 68,455 (158)

Reduced pituitary size in subjects with mutations in the THRB gene and thyroid hormone resistance [PDF]

Endocrine Connections, 2022
Background: Thyroid hormone action is mediated by two forms of thyroid hormone receptors (α, β) with differential tissue distribution. Thyroid hormone recepto r β (TRβ) mutations lead to resistance to thyroid hormone action in tissues predominantly ...
Marcus Heldmann, Krishna Chatterjee, Carla Moran, Berenike Rogge, Julia Steinhardt, Tobias Wagner-Altendorf, Martin Göttlich, Hannes Schacht, Peter Schramm, Georg Brabant, Thomas F Münte, Anna Cirkel   +11 more
doaj   +2 more sources

Identification of a novel THRB mutation causing thyroid hormone resistance syndrome [PDF]

Archives of Endocrinology and Metabolism
Resistance to thyroid hormone syndrome (RTHS) is a rare disorder caused by mutations in the thyroid hormone receptor beta (THRB) gene, resulting in impaired action of thyroid hormones on target tissues and organs.
Jing Yang, Chuan Wang, Li Quan, Sheng Jiang   +3 more
doaj   +3 more sources

Resistance to thyroid hormone caused by heterozygous mutation of thyroid hormone receptor B gene c.G1378A: Report of one Chinese pedigree and literature review

Clinical Case Reports, 2021
The same thyroid hormone receptor B gene (THRB) mutation led to thyroid hormone resistance with different clinical manifestations in the kindreds.
Bingkun Huang, Changqin Liu, Fangsen Xiao, Peiying Huang, Jinyang Zeng, Zheng Chen, Mingzhu Lin, Xuejun Li   +7 more
doaj   +2 more sources

Thyroid hormone resistance syndrome due to a novel heterozygous mutation and concomitant Hashimoto’s Thyroiditis: A pedigree report [PDF]

Journal of International Medical Research, 2022
Thyroid hormone resistance syndrome (THRS) is a rare disease characterized by reduced sensitivity to thyroid hormones. Mutations in the thyroid hormone receptor beta ( THRB ) gene are considered as contributing to the pathogenesis.
Zongyan Xie, ChenFei Li, Yaxin An, Dong Zhao, Xuhong Wang   +4 more
doaj   +2 more sources

Triiodothyroacetic acid exerts tissue-specific thyromimetic effects without tachycardia and hyperthermia in male mice [PDF]

European Thyroid Journal
Objective: Thyroid hormones regulate cardiovascular functions and energy homeostasis, including thermogenesis, through binding to nuclear thyroid hormone receptors. The thyroid hormone analog 3,3′,5-triiodothyroacetic acid (TRIAC) has recently emerged as
Beate Herrmann, Lena Adam, Rebecca Oelkrug, Jens Mittag   +3 more
doaj   +2 more sources

Prematurity is associated with altered central thyroid hormone sensitivity [PDF]

Frontiers in Endocrinology
ObjectivesThyroid Feedback Quantile-based Index (TFQI), the Thyrotropin–Thyroxine Resistance Index (TT4RI), and the Thyrotropin Index (TSHI) have been developed to assess central sensitivity to thyroid hormones by integrating circulating thyroid hormone ...
Gülçin Arslan, Hakan Birinci, Şükrü Onur Halaç, Eren Er, Aslıhan Abbasoğlu, Bumin Nuri Dündar   +5 more
doaj   +2 more sources

The Syndromes of Resistance to Thyroid Hormone Beta

罕见病研究, 2023
The syndrome of resistance to thyroid hormone(RTH) is a rare syndrome caused by the mutation of thyroid hormone receptor (TR) gene, which reduces the sensitivity of target organs to thyroid hormone (TH) and leads to the dysfunction of TH. Thyroid hormone
WANG Huangman, SHAN Zhongyan, TENG Xiaochun   +2 more
doaj   +1 more source

Calcitonin values in pseudohypoparathyroidism [PDF]

Medicinski Glasnik Specijalne Bolnice za Bolesti Štitaste Žlezde i Bolesti Metabolizma "Zlatibor", 2023
Pseudohypoparathyroidism type 1A is a rare endocrine disorder caused by GNAS mutation and the resulting hormone resistance at the receptor level, i.e. the activation of the intracellular pathway of the Gs alpha subunit is not possible.
Marković Bojan, Klet Sanja, Stojković Mirjana, Janić Tamara, Nedeljković-Beleslin Biljana, Ćirić Jasmina, Žarković Miloš   +6 more
doaj   +1 more source

Graves’ disease coexisted with resistance to thyroid hormone: a case report

Journal of Medical Case Reports, 2021
Background Resistance to thyroid hormone is a rare autosomal dominant disorder characterized by reduced responsiveness to thyroid hormone and can cause syndrome of inappropriate secretion of thyroid stimulating hormone.
Hiroshi Akahori, Rika Usuda
doaj   +1 more source

Thyroid hormone receptors and resistance to thyroid hormone disorders [PDF]

Nature Reviews Endocrinology, 2014
Thyroid hormone action is predominantly mediated by thyroid hormone receptors (THRs), which are encoded by the thyroid hormone receptor α (THRA) and thyroid hormone receptor β (THRB) genes. Patients with mutations in THRB present with resistance to thyroid hormone β (RTHβ), which is a disorder characterized by elevated levels of thyroid hormone, normal
Tânia M, Ortiga-Carvalho, Aniket R, Sidhaye, Fredric E, Wondisford   +2 more
openaire   +2 more sources