DUOX2 variants are a frequent cause of congenital primary hypothyroidism in Thai patients

Objective To identify the genetic etiologies of congenital primary hypothyroidism (CH) in Thai patients. Design and methods CH patients were enrolled. Clinical characteristics including age, signs and symptoms of CH, pedigree, family history, screened thyroid-stimulating hormone results, thyroid function tests, thyroid imaging, clinical course and treatment of CH were collected. Clinical exome sequencing by next-generation sequencing was performed. In-house gene list which covered 62 potential candidate genes related to CH and thyroid disorders was developed for targeted sequencing. Sanger sequencing was performed to validate the candidate variants. Thyroid function tests were determined in the heterozygous parents who carried the same DUOX2 or DUOXA2 variants as their offsprings. Results There were 118 patients (63 males) included. Mean (SD) age at enrollment was 12.4 (7.9) years. Forty-five of 118 patients (38%) had disease-causing variants. Of 45 variants, 7 genes were involved (DUOX2, DUOXA2, TG, TPO, SLC5A5, PAX8 and TSHR). DUOX2, a gene causing thyroid dyshormonogenesis, was the most common defective gene (25/45, 56%). The most common DUOX2 variant found in this study was c.1588A>T. TG and TPO variants were less common. Fourteen novel variants were found. Thyroid function tests of most parents with heterozygous state of DUOX2 and DUOXA2 variants were normal. Conclusions DUOX2 variants were most common among Thai CH patients, while TG and TPO variants were less common. The c.1588A>T in DUOX2 gene was highly frequent in this population.

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THYROID FUNCTION TESTS: A REVIEW

10.36106/ijsr/2502260 ◽

2021 ◽

pp. 73-76

Author(s):

Vasudev Sankhla ◽

Aman Deep

Keyword(s):

Thyroid Function ◽

Thyroid Dysfunction ◽

Radioactive Iodine ◽

Thyroid Stimulating Hormone ◽

Thyroid Function Tests ◽

Function Tests ◽

Tsh Secretion ◽

Line Test ◽

Radioactive Iodine Uptake

Thyroid function tests are one of the most common endocrine panels in general practice because a good understanding of when to order them, indications for treatment are important for the optimal treatment of thyroid dysfunction. Thyroid-stimulating hormone (TSH) should be the rst test to be performed on any patient with suspected thyroid dysfunction and in follow-up of individuals on treatment. It is useful as a rst-line test because even small changes in thyroid function are sufcient to cause a signicant increase in TSH secretion. Thyroxine levels may be assessed in a patient with hyperthyroidism, to determine the severity of hyperthyroxinemia. Antithyroid peroxidase measurements should be considered while evaluating patients with subclinical hypothyroidism and can facilitate the identication of autoimmune thyroiditis during the evaluation of nodular thyroid disease. The measurement of TSH receptor antibody must be considered when conrmation of Graves’ disease is needed and radioactive iodine uptake cannot be done.

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The Characteristics of Children with Abnormalities Detected in Thyroid Function Tests, and Distribution of Diagnoses

Journal of Dr Behcet Uz Children s Hospital ◽

10.5222/buchd.2020.57704 ◽

2020 ◽

Author(s):

Elif Çelik ◽

Ayşe Anık

Keyword(s):

Thyroid Function ◽

Thyroid Disease ◽

Correct Diagnosis ◽

Thyroid Function Test ◽

Hashimoto Thyroiditis ◽

Thyroid Stimulating Hormone ◽

Thyroid Function Tests ◽

Test Results ◽

Function Tests ◽

Function Test

INTRODUCTION: Thyroid function tests are among the most frequently implemented laboratory tests in primary, and secondary healthcare institutions. The aim of the present study was to investigate the demographic and clinical characteristics and final diagnosis of children referred by primary and secondary healthcare institutions with the suspicion of an abnormality in thyroid function test and/or with the initial diagnosis of specific thyroid disease. METHODS: A total of two hundred eighty-nine pediatric patients, aged between 4 and 18 years admitted to the outpatient clinics of Behçet Uz Children’s Health and Diseases Hospital between January 2018 and January 2020, were included in the study. The patient data were obtained retrospectively from the hospital records. RESULTS: A total of 66% of the patients who were included in the study were female with a median age of 12 years (8.7-14.4), while 64% of them were pubertal; and 78% of the cases were referred by secondary healthcare institutions. The most common reason for referral was isolated elevation of thyroid stimulating hormone (TSH). A total of 56% of the patients were asymptomatic at the time of admission, and thyroid function test results of 75% of them were within normal limits. When evaluated according to their final diagnoses, the children were normal/healthy (64%), diagnosed with Hashimoto thyroiditis (30%), nodular thyroid disease (3%), Graves disease (2%) and isolated increase of TSH was related to obesity in 5 patients (1%). DISCUSSION AND CONCLUSION: It is essential to evaluate children with abnormal thyroid function test results with detailed history and physical examination. Besides, the thyroid function tests should be performed with reliable and sensitive methods in standardized laboratories to reach the correct diagnosis in these children.

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Reference intervals for neonatal thyroid function tests in the first 7 days of life

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2018-0007 ◽

2018 ◽

Vol 31 (10) ◽

pp. 1113-1116 ◽

Cited By ~ 4

Author(s):

Michelle S. Jayasuriya ◽

Kay W. Choy ◽

Lit K. Chin ◽

James Doery ◽

Alice Stewart ◽

...

Keyword(s):

Thyroid Function ◽

Medical Records ◽

Reference Intervals ◽

Thyroid Stimulating Hormone ◽

Primary Hypothyroidism ◽

Specific Reference ◽

Rapid Decline ◽

Thyroid Function Tests ◽

Accurate Identification ◽

Neonatal Hypothyroidism

Abstract Background: Prompt intervention can prevent permanent adverse neurological effects caused by neonatal hypothyroidism. Thyroid function changes rapidly in the first few days of life but well-defined age-specific reference intervals (RIs) for thyroid-stimulating hormone (TSH), free thyroxine (FT4) and free tri-iodothyronine (FT3) are not available to aid interpretation. We developed hour-based RIs using data mining. Methods: All TSH, FT4 and FT3 results with date and time of collection from neonates aged <7 days during 2005–2015 were extracted from the Monash Pathology database. Neonates with more than one episode of testing or with known primary hypothyroidism, identified by treating physicians or from medical records, were excluded from the analysis. The date and time of birth were obtained from the medical records. Results: Of the 728 neonates qualifying for the study, 569 had time of birth available. All 569 had TSH, 415 had FT4 and 146 had FT3 results. For age ≤24 h, 25–48 h, 49–72 h, 73–96 h, 97–120 h, 121–144 h and 145–168 h of life, the TSH RIs (2.5th–97.5th) (mIU/L) were 4.1–40.2, 3.2–29.6, 2.6–17.3, 2.2–14.7, 1.8–14.2, 1.4–12.7 and 1.0–8.3, respectively; the FT4 RIs (mean ± 2 standard deviation [SD]) (pmol/L) were 15.3–43.6, 14.7–53.2, 16.5–45.5, 17.8–39.4, 15.3–32.1, 14.5–32.6 and 13.9–30.9, respectively; the FT3 RIs (mean±2 SD) (pmol/L) were 5.0–9.4, 4.1–9.1, 2.8–7.8, 2.9–7.8, 3.5–7.2, 3.4–8.0 and 3.8–7.9, respectively. Conclusions: TSH and FT4 were substantially high in the first 24 h after birth followed by a rapid decline over the subsequent 168 h. Use of hour-based RIs in newborns allows for more accurate identification of neonates who are at risk of hypothyroidism.

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Subclinical hypothyroidism

Oxford Textbook of Endocrinology and Diabetes ◽

10.1093/med/9780199235292.003.3252 ◽

2011 ◽

pp. 543-547

Author(s):

Jayne A. Franklyn

Keyword(s):

Thyroid Function ◽

Subclinical Hypothyroidism ◽

Expert Panel ◽

Elevated Serum ◽

Thyroid Stimulating Hormone ◽

Free Thyroxine ◽

Thyroid Function Tests ◽

Free Triiodothyronine ◽

Function Tests ◽

Serum Tsh

Subclinical hypothyroidism is defined biochemically as the association of a raised serum thyroid-stimulating hormone (TSH) concentration with normal circulating concentrations of free thyroxine (T4) and free triiodothyronine (T3). The term subclinical hypothyroidism implies that patients should be asymptomatic, although symptoms are difficult to assess, especially in patients in whom thyroid function tests have been checked because of nonspecific complaints such as tiredness. An expert panel has recently classified individuals with subclinical hypothyroidism into two groups (1): (1) those with mildly elevated serum TSH (typically TSH in the range 4.5–10.0 mU/l) and (2) those with more marked TSH elevation (serum TSH >10.0 mU/l).

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THYROID FUNCTION TESTS IN ADULTS WITH DOWN'S SYNDROME

Acta Endocrinologica ◽

10.1530/acta.0.0880048 ◽

1978 ◽

Vol 88 (1) ◽

pp. 48-54 ◽

Cited By ~ 25

Author(s):

S. Korsager ◽

E. M. Chatham ◽

H. P. Østergaard Kristensen

Keyword(s):

Thyroid Function ◽

Down's Syndrome ◽

Clinical Signs ◽

Down’S Syndrome ◽

Thyroid Stimulating Hormone ◽

Thyroid Function Tests ◽

Thyroid Status ◽

Biochemical Tests ◽

Old Patients ◽

Function Tests

ABSTRACT Thyroid status was studied in 24 patients above the age of 40 years with Down's syndrome. Three patients had thyroid function tests indicating hypothyroidism. Eight patients had thyroid autoantibodies in serum and 8 patients had a higher than normal level of thyroid stimulating hormone in serum. None of the patients had figures indicating thyrotoxicosis. None of the patients showed any of the clinical signs usually seen in patients with hypothyroidism. It is concluded that biochemical tests indicating hypothyroidism are much more often seen in patients with Down's syndrome than in normal subjects and that thyroid status should be assessed in old patients with this disease.

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Clinical study of thyroid swellings

International Journal of Otorhinolaryngology and Head and Neck Surgery ◽

10.18203/issn.2454-5929.ijohns20210473 ◽

2021 ◽

Vol 7 (3) ◽

pp. 448

Author(s):

Ashwini S. Rathod ◽

Girija A. Ghate ◽

Ammu Korah ◽

Lakshmi Krishnan ◽

Ruchir R. Dashora

Keyword(s):

Thyroid Function ◽

Clinical Signs ◽

Neck Region ◽

Signs And Symptoms ◽

Thyroid Function Test ◽

Thyroid Disorders ◽

Thyroid Function Tests ◽

Simple Cyst ◽

Etiological Factors ◽

Function Tests

Background: Thyroid swellings are very frequently encountered in ENT practice, ranging from a simple cyst to a malignant tumour. Disorder of structure of thyroid gland, due to various etiological factors, will give rise to swelling in the neck region. Clinical signs and symptoms are inadequate to diagnose thyroid disorders as similar presentations are seen in various thyroid disorders. So, this study of thyroid swellings was done to know different clinical presentations, age and sex distribution, correlation between thyroid swellings and thyroid function tests, analyse various thyroid swellings and etiological factors based on pathological reports.Methods: A prospective study with 50 patients of thyroid swellings was conducted over 2 years, after taking consent from each patient. Patients were clinically examined by inspection, palpation, percussion, auscultation and underwent thyroid function tests. Ultrasonography (USG) and fine needle aspiration cytology (FNAC) was done in all patients. Results: Total 50 patients of thyroid swellings were studied. Mean age of the patients was 38.92 years with female preponderance (74%). Thyroid swellings were commonly present bilaterally (54%). 82% cases showed euthyroid state. USG revealed that most of the patients had colloid nodule (46%), followed by MNG (26%). Majority of lesions were benign on both USG and FNAC reports. MNG (44%) was reported frequently in the provisional diagnosis, followed by colloid nodule (24%).Conclusions: In all cases of thyroid swellings, detailed clinical history, thorough clinical examination is required. Thyroid function test, USG and FNAC reports help to reach the definitive diagnosis. Histopathological report confirms and gives final diagnosis.

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Parameters affecting the period for being euthyroid in newly-diagnosed Graves’ disease treated with antithyroid agent

International Journal of Research in Medical Sciences ◽

10.18203/2320-6012.ijrms20203537 ◽

2020 ◽

Vol 8 (9) ◽

pp. 3165

Author(s):

Iskender Ekinci ◽

Hande Peynirci

Keyword(s):

Thyroid Function ◽

Smoking Status ◽

Antithyroid Drug ◽

Thyroid Stimulating Hormone ◽

Graves Disease ◽

Thyroid Function Tests ◽

Newly Diagnosed ◽

Function Tests ◽

Significant Difference ◽

Stimulating Hormone

Background: There are limited data about the factors affecting the response time to medical treatment in Graves’ disease (GD) although many studies examined the predictors of the relapse after drug withdrawal. The aim of the current study was to evaluate the time for becoming euthyroid under antithyroid drug (ATD) therapy and the parameters influencing this period in patients diagnosed as GD.Methods: Patients with newly-diagnosed GD and decided to treat with ATD initially between March 2017 and September 2018 were retrieved retrospectively. Sociodemographic features as well as laboratory parameters like thyroid function tests and thyroid-stimulating hormone-receptor antibody (TRab) at the time of diagnosis were recorded.Results: Out of 41 patients, 63.4% (n=26) were female. The mean age was 36.1±11.7 years and 43.9% (n=18) of them were smoking. The time between the initiation of treatment and the duration of becoming euthyroid was 2.4±1.8 months. No significant difference was noted between age, gender, and smoking status and the time to become euthyroid under ATD treatment. This period was significantly positively correlated with levels of free triiodothyronine, free thyroxine, and negatively correlated with thyroid-stimulating hormone. Response to ATD therapy was higher in patients with pre-treatment TRab levels <10 IU/l than TRab ≥10 IU/l (p=0.011).Conclusions: Pretreatment thyroid function tests and TRab levels may be taken into consideration before deciding treatment in patients with newly diagnosed GD. It would be useful to design more comprehensive studies so that this proposal can find a response in clinical practice.

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L-T4 Therapy in the Presence of Pharmacological Interferents

Frontiers in Endocrinology ◽

10.3389/fendo.2020.607446 ◽

2020 ◽

Vol 11 ◽

Author(s):

Salvatore Benvenga

Keyword(s):

Thyroid Function ◽

Cardiovascular Complications ◽

Primary Hypothyroidism ◽

Free Thyroxine ◽

Thyroid Function Tests ◽

Central Hypothyroidism ◽

Serum Free ◽

Function Tests ◽

Frequent Monitoring ◽

Serum Free Thyroxine

Pharmacological interference on L-thyroxine (L-T4) therapy can be exerted at several levels, namely from the hypothalamus/pituitary through the intestine, where the absorption of exogenous L-T4 takes place. A number of medications interfere with L-T4 therapy, some of them also being the cause of hypothyroidism. The clinician should be aware that some medications simply affect thyroid function tests with no need of modifying the dose of L-T4 that the patient was taking prior to their prescription. Usually, the topic of pharmacological interference on L-T4 therapy addresses the patient with primary hypothyroidism, in whom periodic measurement of serum thyrotropin (TSH) is the biochemical target. However, this minireview also addresses the patient with central hypothyroidism, in whom the biochemical target is serum free thyroxine (FT4). This minireview also addresses two additional topics. One is the costs associated with frequent monitoring of the biochemical target when L-T4 is taken simultaneously with the interfering drug. The second topic is the issue of metabolic/cardiovascular complications associated with undertreated hypothyroidism.

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An autoimmune cause of confusion in a patient with a background of hypothyroidism

Endocrinology Diabetes and Metabolism Case Reports ◽

10.1530/edm-19-0014 ◽

2019 ◽

Vol 2019 ◽

Author(s):

Jonathan Brown ◽

Luqman Sardar

Keyword(s):

Thyroid Function ◽

Thyroid Stimulating Hormone ◽

Healthy Population ◽

List Type ◽

Thyroid Function Tests ◽

Thyroid Antibodies ◽

Fluid Analysis ◽

Normal Thyroid Function ◽

Function Tests ◽

Antibody Titres

Summary A 68-year-old previously independent woman presented multiple times to hospital over the course of 3 months with a history of intermittent weakness, vacant episodes, word finding difficulty and reduced cognition. She was initially diagnosed with a TIA, and later with a traumatic subarachnoid haemorrhage following a fall; however, despite resolution of the haemorrhage, symptoms were ongoing and continued to worsen. Confusion screen blood tests showed no cause for the ongoing symptoms. More specialised investigations, such as brain imaging, cerebrospinal fluid analysis, electroencephalogram and serology also gave no clear diagnosis. The patient had a background of hypothyroidism, with plasma thyroid function tests throughout showing normal free thyroxine and a mildly raised thyroid-stimulating hormone (TSH). However plasma anti-thyroid peroxidise (TPO) antibody titres were very high. After discussion with specialists, it was felt she may have a rare and poorly understood condition known as Hashimoto’s encephalopathy (HE). After a trial with steroids, her symptoms dramatically improved and she was able to live independently again, something which would have been impossible at presentation. Learning points: In cases of subacute onset confusion where most other diagnoses have already been excluded, testing for anti-thyroid antibodies can identify patients potentially suffering from HE. In these patients, and under the guidance of specialists, a trial of steroids can dramatically improve patient’s symptoms. The majority of patients are euthyroid at the time of presentation, and so normal thyroid function tests should not prevent anti-thyroid antibodies being tested for. Due to high titres of anti-thyroid antibodies being found in a small percentage of the healthy population, HE should be treated as a diagnosis of exclusion, particularly as treatment with steroids may potentially worsen the outcome in other causes of confusion, such as infection.

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Is It Necessary to Measure Thyroid Hormone Levels in Children Receiving Antiepileptic Drugs?

Journal of Pediatric Epilepsy ◽

10.1055/s-0038-1648242 ◽

2018 ◽

Vol 07 (04) ◽

pp. 136-141

Author(s):

Reem A. Abdel Aziz ◽

Mostafa A. Abu ELela

Keyword(s):

Antiepileptic Drugs ◽

Thyroid Function ◽

Thyroid Function Test ◽

Serum Levels ◽

Thyroid Stimulating Hormone ◽

Control Group ◽

Thyroid Function Tests ◽

Healthy Children ◽

Function Tests ◽

Serum T3

Purpose This article evaluates the effect of antiepileptic drugs (AEDs) on thyroid function tests in children with epilepsy. Methodology One hundred twenty children were studied, with 40 patients taking older generation AEDs Na valproate (N = 20) and carbamazepine (N = 20), 40 patients taking newer generation AEDs levetiracetam (N = 20) and oxcarbazepine (N = 20), and 40 healthy children as controls. Serum T3, T4, FT4, and thyroid-stimulating hormone (TSH) were measured. Results Patients taking Na valproate had lower T3, T4, and a higher TSH level than controls. Patients taking carbamazepine had the lowest T3, T4, and FT4 serum levels among patients receiving AEDs. Conclusion The thyroid function tests were affected by the use of Na valproate and carbamazepine compared to both the control group and the group taking newer AEDs oxcarbazepine and levetiracetam. In addition, there was no effect of levetiracetam on thyroid function test results.

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