RESISTANCE TO THYROID HORMONE DUE TO A NOVEL THR- MUTATION IN A PATIENT WITH THYROID AGENESIS
Refetoff Syndrome is a rare disorder characterized by resistance to thyroid hormone (RTH). The coexistence of RTH and thyroid dysgenesis is a rare event. Up to now, only four cases of ectopic gland and RTH have been reported.
Maria Scavone
doaj +2 more sources
Resistance to thyroid hormone due to a novel mutation of thyroid hormone receptor beta gene [PDF]
Resistance to thyroid hormone (RTH) is a rare inherited syndrome characterized by diminished response of the target tissue to thyroid hormone caused, in the majority of cases, by mutation of the thyroid hormone receptor beta (THRβ) gene. Despite elevated
Jae Hee Lee, Eun Young Kim
doaj +2 more sources
A Case of Thyroid Hormone Resistance Syndrome with a Novel Mutation (c.947G>a) in the THRB Gene: Experience in Diagnosis and Treatment [PDF]
Jie Liu, Yu Wei, Yanhui Zhu, Yu Li, Qiong Wang, Lei Yu, Langen Zhuang, Guoxi Jin, Xiaoyan Pei Department of Endocrinology, The First Affiliated Hospital of Bengbu Medical University, Bengbu, Anhui Province, People’s Republic of ChinaCorrespondence: Guoxi
Liu J +8 more
doaj +1 more source
Longitudinal evidence of the impact of normal thyroid stimulating hormone variations on cognitive functioning in very old age [PDF]
The purpose of this study was to examine longitudinal associations among thyroid stimulating hormone (TSH) levels and cognitive performance. Data collected at the first three assessment times, approximately 3 years apart, are reported for the survivors ...
Wahlin, TBR, Wahlin, A, Bunce, D
core +6 more sources
Clinical Characteristics and Genotype-phenotype Correlation in Turkish Patients with a Diagnosis of Resistance to Thyroid Hormone Beta [PDF]
Objective: Resistance to thyroid hormone beta (RTHβ) is a rare disorder characterized by a fairly heterogeneous clinical presentation due to varying degrees of tissue response to thyroid hormone.
Büyükyılmaz G +11 more
europepmc +2 more sources
Resistance to thyroid hormone due to a novel THRB p.Val349Ala mutation in a Taiwanese boy
Resistance to thyroid hormone (RTH) is a rare congenital disorder characterized by impaired sensitivity of target tissues to thyroid hormone. The disease is mostly caused by heterozygous mutations of thyroid hormone receptor β (THRB) gene.
Zhen Liu, Wen-Yu Tsai, Cheng-Ting Lee
doaj +1 more source
Calcitonin values in pseudohypoparathyroidism [PDF]
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 +6 more
doaj +1 more source
Jiangling Wang,1,2,* Lijuan Yang,3,* Wei Liu,1 Chaogang Wei,1 Junkang Shen1 1Department of Radiology, The Second Affiliated Hospital of Soochow University, Soochow, Jiangsu, People’s Republic of China; 2Department of Physical Diagnosis, Huadong ...
Wang J, Yang L, Liu W, Wei C, Shen J
doaj +1 more source
Placental transfer of a hydroxylated polychlorinated biphenyl and effects on fetal and maternal thyroid hormone homeostasis in the rat [PDF]
Earlier studies at our laboratory indicated that several hydroxylated polychlorinated biphenyls (OH-PCBs) detected in human blood could specifically inhibit thyroxine (T4) transport by competitive binding to the thyroid hormone transport protein ...
Bergman, A. +11 more
core +2 more sources
Purpose: Normal or elevated thyrotropin (TSH) levels in the presence of elevated thyroxine is defined as syndrome of inappropriate secretion of TSH. The two main clinical conditions that can lead to this syndrome are TSH-secreting adenoma (TSHoma) and ...
Şefika Burçak Polat +5 more
doaj +1 more source

