scholarly journals An overview of thyroid function tests in subjects with resistance to thyroid hormone and related disorders

2021 ◽  
Author(s):  
Tetsuya Tagami
2017 ◽  
Vol 3 (1) ◽  
pp. e22-e25 ◽  
Author(s):  
Panudda Srichomkwun ◽  
Neal H. Scherberg ◽  
Jasminka Jakšić ◽  
Samuel Refetoff

Author(s):  
Ohoud Al Mohareb ◽  
Mussa H Al Malki ◽  
O Thomas Mueller ◽  
Imad Brema

Summary Resistance to thyroid hormone-beta (RTHbeta) is a rare inherited syndrome characterized by variable reduced tissue responsiveness to the intracellular action of triiodothyronine (T3), the active form of the thyroid hormone. The presentation of RTHbeta is quite variable and mutations in the thyroid hormone receptor beta (THR-B) gene have been detected in up to 90% of patients. The proband was a 34-year-old Jordanian male who presented with intermittent palpitations. His thyroid function tests (TFTs) showed a discordant profile with high free T4 (FT4) at 45.7 pmol/L (normal: 12–22), high free T3 (FT3) at 11.8 pmol/L (normal: 3.1–6.8) and inappropriately normal TSH at 3.19 mIU/L (normal: 0.27–4.2). Work up has confirmed normal alpha subunit of TSH of 0.1 ng/mL (normal <0.5) and pituitary MRI showed no evidence of a pituitary adenoma; however, there was an interesting coincidental finding of partially empty sella. RTHbeta was suspected and genetic testing confirmed a known mutation in the THR-B gene, where a heterozygous A to G base change substitutes valine for methionine at codon 310. Screening the immediate family revealed that the eldest son (5 years old) also has discordant thyroid function profile consistent with RTHbeta and genetic testing confirmed the same M310V mutation that his father harbored. Moreover, the 5-year-old son had hyperactivity, impulsivity and aggressive behavior consistent with attention deficit hyperactivity disorder (ADHD). This case demonstrates an unusual co-existence of RTHbeta and partially empty sella in the same patient which, to our knowledge, has not been reported before. Learning points: We report the coincidental occurrence of RTHbeta and a partially empty sella in the same patient that has not been previously reported. TFTs should be done in all children who present with symptoms suggestive of ADHD as RTHbeta is a common finding in these children. The management of children with ADHD and RTHbeta could be challenging for both pediatricians and parents and the administration of T3 with close monitoring may be helpful in some cases. Incidental pituitary abnormalities do exist in patients with RTHbeta, although extremely rare, and should be evaluated thoroughly and separately.


2006 ◽  
Vol 155 (5) ◽  
pp. 655-662 ◽  
Author(s):  
Robin P Peeters ◽  
Wendy M van der Deure ◽  
Theo J Visser

Serum thyroid parameters show substantial inter-individual variability, in which genetic variation is a major factor. Findings in patients with subclinical hyper- and hypothyroidism illustrate that even minor alterations in serum thyroid function tests can have important consequences for a variety of thyroid hormone-related clinical endpoints, such as atherosclerosis, bone mineral density, obesity, and heart rate. In the last few years, several studies described polymorphisms in thyroid hormone pathway genes that alter serum thyroid function tests. In this review, we discuss the genetic variation in the TSH receptor and iodothyronine deiodinases. We discuss the possible consequences of these studies for the individual patient and also the new insights in thyroid hormone action that can be obtained from these data.


2001 ◽  
Vol 11 (1) ◽  
pp. 1-4
Author(s):  
Nadya Kagansky ◽  
Sari Tal ◽  
Shmuel Levy

The term euthyroid sick syndrome (ESS) is used to describe abnormalities in thyroid function tests that are observed in patients with systemic non-thyroid illness. Despite these abnormalities, there is usually little clinical evidence of hypothyroidism. Patients with ESS are generally considered to have altered thyroid hormone metabolism and to be euthyroid.


2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A831-A831
Author(s):  
Rachel Beeson ◽  
Antoinette B Coe ◽  
David Reyes-Gastelum ◽  
Megan R Haymart ◽  
Maria Papaleontiou

Abstract Background: Thyroid hormone prescriptions have steadily increased in the past few years with levothyroxine being one of the most frequently prescribed medications in the United States. Population-based studies have shown that older age is a significant predictor for thyroid hormone initiation, with use continuing long-term. Thyroid hormone management in older adults is complicated by the presence of comorbidities and polypharmacy, particularly due to medications that can interfere with thyroid function tests. However, the prevalence of concurrent use of thyroid hormone and interfering medications in older adults and patient characteristics associated with this practice remain unknown. Methods: We conducted a population-based, retrospective cohort study of 538,137 thyroid hormone users aged ≥65 years from the Corporate Data Warehouse of the Veterans Health Administration (2004-2017). First, we described the prevalence of concurrent use of thyroid hormone and medications that commonly interfere with thyroid function tests (i.e., prednisone, prednisolone, carbamazepine, phenytoin, phenobarbital, amiodarone, lithium, interferon-alpha, tamoxifen). Then, we performed a multivariable logistic regression analysis to determine patient characteristics associated with concurrent use of thyroid hormone and at least one interfering medication during the study period. Covariates included in the model were patient age, sex, race, ethnicity and number of comorbidities. Results: Overall, 170,261 (31.6%) of patients were on at least one interfering medication while on thyroid hormone during the study period (median follow up 56 months). Non-white race [odds ratio (OR) 1.18, 95% confidence interval (CI) 1.15-1.21], compared to white race), Hispanic ethnicity (OR 1.11, 95% CI 1.08-1.14, compared to non-Hispanic), female sex (OR 1.12, 95% CI 1.08-1.15, compared to male sex), and presence of comorbidities (e.g. Charlson-Deyo Comorbidity Score ≥2, OR 2.47, 95% CI 2.43-2.52, compared to zero) were more likely to be associated with concurrent use of thyroid hormone and interfering medications. Older age (e.g., ≥85 years, OR 0.47, 95% CI 0.46 - 0.48, compared to age 65-74 years) was less likely to be associated with concurrent use of thyroid hormone and interfering medications. Conclusions: Almost one-third of older adults on thyroid hormone were taking medications that have been known to interfere with thyroid function tests. Our study highlights the complexity of managing thyroid hormone replacement in older patients, many of whom are at risk for adverse effects in the context of polypharmacy and comorbidities.


2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Jorge Pedro ◽  
Vanessa Gorito ◽  
Cristina Ferreras ◽  
Ferreira João Silva Maria ◽  
Sofia Ferreira ◽  
...  

Abstract Background: Impaired sensitivity to thyroid hormone refers to any process that negatively affects its action, including defects in its transport, metabolism and action on the receptor. Resistance to thyroid hormone due to beta-receptor mutations (RTH-beta) is the most common form of this entity and is characterized by reduced response of peripheral tissues to the action of thyroid hormone. The genetic variability of cofactors involved in the action of thyroid hormone explains the heterogeneity of resistance among affected individuals. Generally, patients with this disorder, have increased levels of free T4 and free T3 in association with normal or high TSH. Clinical case: 11-year-old boy, with personal history of Attention-deficit/hyperactivity disorder (ADHD). A pediatric endocrinology consultation was requested to evaluate abnormalities in his thyroid function tests. A few months earlier, his father was referred to endocrinology consultation because of thyroid function tests abnormalities: TSH - 3.01 μIU / mL (N: 0.35 - 4.94); Free T4 1.7 ng / dL (N: 0.7-1.48); Free T3 4.77 pg / mL (N: 1.71-3.71). Initially, two diagnostic hypotheses were considered: central hyperthyroidism or impaired sensitivity to thyroid hormone. The adult underwent pituitary magnetic resonance, which raised the hypothesis of a pituitary microadenoma, and TRH stimulation test, whose result was strongly suggestive of the second diagnostic possibility. A genetic study was requested and the presence of the c700 G&gt; A variant (p. Ala 324 trh) in the THRB gene was identified, which confirmed the most likely hypothesis. At the time of the pediatric endocrinology consultation, the 11-year-old boy had the results of his lab tests: TSH - 6.67 μIU / mL (N: 0.35 - 5); T4L 2.27 ng / dL (N: 0.88-1.58); T3L 7.79 pg / mL (N: 2-4.20). Given his perfect height and weight evolution and the absence of symptoms suggestive of hypo or hyperthyroidism, it was decided not to start any medication, keeping only periodic surveillance. Conclusion: This case exemplifies unusual thyroid function tests. This discordance between serum thyroid hormone and TSH concentrations should raise the possibility of impaired sensitivity to thyroid hormone. In this condition, patients may present with symptoms of hypo or hyperthyroidism and the etiology of thyroid function tests abnormalities are not easily recognized. This can lead to misdiagnosis and consequently unnecessary treatment.


2021 ◽  
Vol 14 ◽  
pp. 117954762199457
Author(s):  
Abid M Sadiq ◽  
Nyasatu G Chamba

Background: Thyrotoxicosis is a clinical syndrome with high amounts of free thyroid hormone levels causing elevated thyroid hormone function in body tissues. Prolonged effects of free thyroid hormones may lead to cardiac complications such as atrial fibrillation (AF) and heart failure (HF). Case 1: A 31-year-old female, was admitted due to difficulty in breathing, generalised body swelling and jaundice. She was dyspnoeic with an irregular heart rate, and presented with abnormal vitals, liver and thyroid function tests which were diagnostic for thyroid storm. She was managed over 32 days in-hospital stay with carbimazole, propranolol, hydrocortisone, digoxin and furosemide. Unfortunately, she was readmitted 6 months later with worsened HF symptoms and passed away. Case 2: A 57-year-old female, was admitted due to difficulty in breathing, bilateral lower limb swelling and jaundice. She was tachypnoeic with an irregular heart rate, and presented with abnormal liver enzymes and thyroid function tests which were diagnostic for thyrotoxicosis. She was managed with carbimazole, propranolol, digoxin and furosemide, and was discharged on the 6th hospital day. Conclusion: Prolonged untreated thyrotoxicosis increases the risk of AF and HF. Early and monitored treatment and follow-up of hyperthyroidism is key to the management of AF and HF in achieving a better outcome.


2021 ◽  
Vol 2 (6) ◽  
pp. 56-59
Author(s):  
Emre Hoca ◽  
Hayriye Esra Ataoğlu ◽  
Süleyman Ahbab

Introduction: Non-thyroidal illness syndrome (NTIS) can be defined as afunctional impairment of the hypothalamic-pituitary-thyroid axis accompanied by signs of non-thyroidal disease with changes in thyroid stimulating hormone (TSH), free T3 (fT3) and free T4 (fT4) levels. NTIS and thyroid hormone levels in this syndrome are thought to be related with mortality. This study was performed to evaluate the relationship between hormone levels and mortality in this syndrome. Methods: The 5-year mortality data of patients who were hospitalized in the first 6 months of 2014 and whose thyroid hormone levels could be checked twice within 5 years were evaluated. In our study conducted with 405 patients whose thyroid function tests was repeated, the follow-up period was 5 years. Biochemical parameters including thyroid function tests were sent from all patients. NTIS was defined as a condition in patients with low fT3 levels (<2.5 pg/mL) and TSH levels within the normal range (0.38-5.33 mIU / L). Results: 128 patients died, and the number of surviving patients was 277 during the follow-up period. Positive acute phase reactants such as CRP, sedimentation, ferritin was high and albumin (negative acute phase reactant) and fT3 levels were low in patients who died. In addition, these changes in biochemical values were statistically significant. The mortality rate was increased in patients with low fT3 and high fT4 levels. In the follow-up period, changes in TSH levels were not significantly associated with mortality. Conclusion: Both the decrease in fT3 levels and the increase in fT4 levels can be used as predictors and independent risk factors for long-term mortality risk in chronically ill and hospitalized patients with NTIS.


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