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
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Thyroid hormone resistance: a novel mutation in thyroid hormone receptor beta (THRB) gene - case report [PDF]
Thyroid hormone resistance (THR) is a dominantly inherited syndrome characterized by reduced sensitivity to thyroid hormones. It is usually caused by mutations in the thyroid hormone receptor beta (THRB) gene.
Emregül Işık +6 more
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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
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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
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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
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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
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Thyroid Hormone Resistance: A 17-Year Follow-up Case Report
Luigi Uccioli +2 more
exaly +2 more sources
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
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Thyroid hormone resistance syndrom: difficulties in differential diagnosis
Thyroid hormone resistance syndrome (RTH) is a rare disorder characterized by reduced peripheral tissue responses to thyroid hormones (TH) and elevated levels of circulating free thyroid hormones.
Lyudmila A. Ruyatkina +3 more
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The assessment of thyroid function tests for to the diagnose hyperthyroidism (thyrotoxicosis) or hypothyroidism does not constitute a nuisance when the clinical suspicion is strong.
Soner Cander, Ozen Oz Gul, Canan Ersoy
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