• Journal of Interdisciplinary Genomics
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• v.5 no.2
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• pp.32-34
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• 2023

Resistance to thyroid hormone syndrome (RTH) is a genetic disease caused by the mutation of either the thyroid hormone receptor-β (THRB) gene or the thyroid hormone receptor-α (THRA) gene. RTH caused by THRB mutations (RTH-β) is characterized by the target tissue's response to thyroid hormone, high levels of triiodothyronine and/or thyroxine, and inappropriate secretion of thyroid-stimulating hormone (TSH). THRA mutation is characterized by hypothyroidism that affects gastrointestinal, neurological, skeletal, and myocardial functions. Most patients do not require treatment, and some patients may benefit from medication therapy. These syndromes are characterized by decreased tissue sensitivity to thyroid hormones, generating various clinical manifestations. Thus, clinical changes of resistance to thyroid hormones must be recognized and differentiated, and an approach to the practice of personalized medicine through an interdisciplinary approach is needed.

• Clinical and Experimental Pediatrics
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• v.50 no.6
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• pp.576-579
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• 2007

The syndrome of resistance to thyroid hormone (RTH) is characterized by reduced tissue sensitivity to thyroid hormone (TH). In the majority of subjects, RTH is caused by mutations in the thyroid hormone receptor beta ($TR{\beta}$) gene, located on the chromosome locus 3p24.3. RTH is inherited in an autosomal dominant manner. The clinical presentation of RTH is variable, but common features include elevated serum levels of thyroid hormone (TH), a normal or slightly increased thyrotropin (thyroid stimulating hormone, TSH) level that responds to thyrotropin releasing hormone (TRH), and goiter. We report a 4 year-old girl, who was clinically euthyroid in spite of high total and free $T_4$, and $T_3$ concentrations, while TSH was slightly increased. Sequence analysis of the thyroid hormone receptor beta gene (THRB) confirmed a heterozygous C to T change at nucleotide number 1303, resulting in a substitution of histidine by tyrosine at codon 435 (H435Y). Further analysis of her parents revealed that the H435Y variation was a de novo mutation since neither parents had the variation. Her parents' TH and TSH levels were within normal range.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.5 no.1
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• pp.102-107
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• 1994

Recently several studies showed a strong and specific association of Attention-Deficit Hyperactivity Disorder(ADHD) and generalized resistance to thyroid hormone(GRTH). The recommandation that all children with ADHD be screened for GRTH is an newer controversial issue in child psychiatric field. Author examined thyroid indices(T3, T4, TSH) and clinical characteristics in the 51 clinical populations with ADHD, developmental delay, and language disorders. The results are that 11 cases were out of the normal range of both T2 and T4 inspite of normal TSH. This finding is suggestive of the finding of GRTH cases. Therefore I suggest that child psychiatrist should pay attention to ADHD symptoms secondary to GRTH and that all children with familial ADHD and developmental delay(including launguage disorder) be screened for thyroid abnormalities.

• Korean Journal of Clinical Laboratory Science
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• v.47 no.4
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• pp.324-331
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• 2015

Thyroid hormones are essential for cellular energy homeostasis and regulation by interacting with the sympathetic nervous system. This study was conducted to investigate the relationship between thyroid hormone and risk factors of metabolic syndrome for medical checkups of male patients. The study subjects were 12,250 males between 20~80 years old who visited the hospital for a health check-up at one General Hospital in Gyeonggi-do during the period of January 2011 to December 2013. According to the American Heart Association/National Heart, Lung, and Blood Institute (AHA/NHLBI), the metabolic syndrome criteria is defined as the presence of 3 or more risk factors. FT4 was lower in the metabolic syndrome group than in the normal group (p<0.001). The level of FT4 decreased as the levels of abdominal obesity (p=0.001), hypertriglyceridemia (p<0.001), blood pressure (p=0.005) and blood glucose (p=0.005) increased. The TSH level increased hypertriglyceridemia (p=0.047). FT4 had an influence on the waist circumference and triglyceride (p<0.001). HbA1c, insulin, HOMA-IR, hs-CRP were higher in the lowest quartile than in the highest quartile (p<0.001). FT4 had effects on the waist circumference and triglyceride, but TSH had no effect on metabolic syndrome risk factors. The metabolic syndrome was lower in the highest quartile of FT4 than in its lowest quartile.