scholarly journals Double variants in TSHR and DUOX2 in a patient with hypothyroidism: case report

2019 ◽  
Vol 32 (11) ◽  
pp. 1299-1303 ◽  
Author(s):  
Zerin Sasivari ◽  
Gabor Szinnai ◽  
Britta Seebauer ◽  
Daniel Konrad ◽  
Mariarosaria Lang-Muritano
Keyword(s):  
Elevated Serum ◽  
Thyroid Stimulating Hormone ◽  
Phenotype Correlation ◽  
Pathogenic Variants ◽  
Dual Oxidase ◽  
Thyroid Dyshormonogenesis ◽  
Thyroxine Replacement ◽  
Double Heterozygosity ◽  
Tsh Levels ◽  
Stimulating Hormone

Abstract Thyroid dyshormonogenesis (TDH) is characterized by the defective synthesis of thyroid hormones. We present a patient with congenital hypothyroidism (CH) who presented in newborn screening with elevated serum thyroid-stimulating hormone (TSH), decreased free thyroxine (fT4) and increased thyroglobulin (Tg) concentrations. Ultrasound scan revealed a properly structured thyroid gland. Treatment with L-thyroxine was initiated. At the age of 2 years, thyroxine replacement was stopped. The patient remained untreated until 6 years of age when TSH levels progressively increased and L-thyroxine treatment was restarted at a dose of 12.5 μg/day. Genetic analysis revealed a double heterozygosity for likely pathogenic variants of dual oxidase 2 (DUOX2) and thyroid stimulating hormone receptor (TSHR). Both genes were earlier shown to be associated with CH. In a literature review, our patient was compared to previously published patients with similar clinical characteristics, and a good genotype-phenotype correlation was identified.

Syndrome of'inappropriate secretion of thyroid-stimulating hormone' by partial target organ resistance to thyroid hormones

1981 ◽  
Vol 97 (3) ◽  
pp. 361-368 ◽  
Author(s):  
J. Salmerón De Diego ◽  
C. Alonso Rodriguez ◽  
A. Salazar Orlando ◽  
P. Sanchez Garcia Cervigon ◽  
E. Caviola Mutazzi ◽  
...  
Keyword(s):  
Thyroid Hormones ◽  
Elevated Serum ◽  
Pituitary Tumour ◽  
Thyroid Stimulating Hormone ◽  
Target Organ ◽  
Resistance To Thyroid Hormones ◽  
Serum Thyroid Hormone ◽  
Serum Tsh ◽  
Tsh Levels ◽  
Stimulating Hormone

Abstract. A 74 year old woman was found to have elevated serum thyroid-stimulating hormone (TSH) levels and elevated serum thyroid hormone levels, with clinical euthyroidism. There was no evidence of a pituitary tumour. TSH levels increased substantially during methimazole therapy. Administration of dexamethasone was followed by a prompt fall in serum TSH levels. Triiodothyronine (T3) was administered over a period of 20 days in doses from 25 μg to as much as 100 μg daily causing a rise in serum T3 above 700 ng/100 ml, a decline of T4 and a blunting of the response to thyrotrophinreleasing hormone (TRH), with normal metabolic responses (pulse rate, photomotogram, cholesterol). These results suggest that the patient's disorder is due to partial target organ resistance to thyroid hormones.

Association of maternal serum trace elements with newborn screening-thyroid stimulating hormone

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Yasemin Ucal ◽  
Muhittin Serdar ◽  
Cansu Akın-Levi ◽  
Zeynep Zulfiye Yıldırım-Keles ◽  
Cem Turam ◽  
...  
Keyword(s):  
Trace Elements ◽  
Newborn Screening ◽  
Thyroid Stimulating Hormone ◽  
Maternal Serum ◽  
Blood Samples ◽  
Free T3 ◽  
Flame Atomic Absorption ◽  
Serum Trace Elements ◽  
Tsh Levels ◽  
Stimulating Hormone

AbstractObjectivesTrace elements are essential in thyroid functioning as they incorporate into biologically important enzymes as cofactors. The placenta can either activate or inhibit the transfer of maternal trace elements to the unborn. An imbalance of maternal trace elements in pregnancy may affect both maternal and newborn thyroid function.MethodsBlood samples from 315 lactating mothers were collected in the first 48 h after delivery and evaluated for selenium (Se), copper (Cu), manganese (Mn), and zinc (Zn) using flame atomic absorption spectroscopy (FAAS) and quadrupole inductively coupled plasma-mass spectrometer (ICP-MS). Thyroid hormones and auto-antibodies (thyroid-stimulating hormone (TSH), free T3 (fT3), free T3 (fT4), anti–thyroid peroxidase (anti-TPO), and antithyroglobulin (anti-TG)) were analyzed in maternal blood using an electro-chemiluminescence immunoassay (ECLIA). Between 48 and 72 postpartum hours, spot blood samples were used for newborn screening-TSH measurement. Correlation and multivariate analyses were performed to evaluate the effect of maternal trace element levels on newborn screening-TSH levels.ResultsThe medians (min-max) of maternal Se (45.16 µg/L (21.28–79.04)), Cu (210.10 µg/dL (117.04–390.64)), Mn (2.11 µg/L (0.20–3.46)), and Zn (0.43 mg/L (0.24–0.66)) were determined. A positive correlation was detected between Zn and maternal TSH levels (r=0.12, p < 0.05). Newborn screening-TSH was significantly correlated with maternal Cu (r=0.14, p < 0.01). Similarly, Cu exhibited weak associations in clustering analysis while others shared common clusters with newborn-screening TSH.ConclusionsThere was no significant association between most of the maternal serum trace elements and maternal thyroid hormone parameters, with an only exception between maternal Zn and maternal serum TSH. Finally, the association between maternal serum Cu levels and newborn screening-TSH levels may highlight the importance of maternal Cu levels on the newborn thyroid health.

scholarly journals Approach to Subclinical Thyroid Diseas

1970 ◽  
Vol 26 (2) ◽  
pp. 91-96
Author(s):  
Satya Ranjan Sutradhar
Keyword(s):  
Subclinical Hypothyroidism ◽  
Thyroid Dysfunction ◽  
Hormone Level ◽  
Elevated Serum ◽  
Thyroid Stimulating Hormone ◽  
Good Evidence ◽  
Reference Ranges ◽  
Mineral Density ◽  
Asymptomatic Patients ◽  
Stimulating Hormone

Subclinical thyroid dysfunction is defined as an abnormal serum thyroid-stimulating hormone level and free thyroxine and triiodothyronine levels within their reference ranges. The prevalence of subclinical hyperthyroidism is about 2 percent. Subclinical hypothyroidism is found in approximately 4 to 8.5 percent of the population. Most national organizations recommend against routine screening of asymptomatic patients, but screening is recommended for high risk populations. The management of subclinical thyroid dysfunction is controversial. There is good evidence that subclinical hypothyroidism is associated with progression to overt disease. Patients with a serum thyroid-stimulating hormone level greater than 10 mIU/L have a higher incidence of elevated serum low density lipoprotein cholesterol concentrations; however, evidence is lacking for other associations. There is insufficient evidence that treatment of subclinical hypothyroidism is beneficial. A serum thyroid stimulating hormone level of less than 0.1 mIU/L is associated with progression to overt hyperthyroidism, atrial fibrillation, reduced bone mineral density, and cardiac dysfunction. There is little evidence that early treatment alters the clinical course. DOI: 10.3329/jbcps.v26i2.4187 J Bangladesh Coll Phys Surg 2008; 26: 91-96

scholarly journals CUSHING DISEASE MASQUERADING AS GLAUCOMA

2019 ◽  
Vol 5 (5) ◽  
pp. e290-e293
Author(s):  
Yumiko Tsushima ◽  
Lubna Bashir Munshi ◽  
Charit Taneja ◽  
Se-min Kim
Keyword(s):  
Adrenocorticotropic Hormone ◽  
Case Reports ◽  
Elevated Serum ◽  
Serum Cortisol ◽  
Thyroid Stimulating Hormone ◽  
Pituitary Hormone ◽  
Cushing Disease ◽  
Corticosteroid Administration ◽  
Late Night ◽  
Stimulating Hormone

Objective: Glaucoma is a well-recognized side effect of corticosteroids. However, steroid-induced glaucoma typically refers to that caused by exogenous corticosteroid administration. Glaucoma secondary to endogenous overproduction of corticosteroids has only been reported in a few case reports. We aim to bring attention to glaucoma as a rare but important manifestation of endogenous hypercortisolism. Methods: Patient history, physical exam, laboratory results, and imaging studies were reviewed. Results: We report a case of glaucoma as the initial presentation of Cushing disease (CD). The patient was diagnosed with glaucoma 16 months prior to his endocrinology evaluation. At our initial encounter, the patient had a cushingoid appearance. Levels of 24-hour urinary cortisol and late-night salivary cortisol were elevated. Serum cortisol was not suppressed by 1 mg of dexamethasone overnight, but it was suppressed by 8 mg of dexamethasone. Adrenocorticotropic hormone was also elevated. All other pituitary hormone axes were unremarkable (thyroid-stimulating hormone, free thyroxine, follicle-stimulating hormone, luteinizing hormone, growth hormone, prolactin, and insulin-like growth factor). Pituitary magnetic resonance imaging suggested a small adenoma (2 to 3 mm); therefore, the patient underwent inferior petrosal sinus sampling. The results were consistent with CD. Transsphenoidal resection was performed and final pathology confirmed an adrenocorticotropic hormone-positive adenoma. Hypercortisolism and intraocular pressures improved after the surgery. Conclusion: Glaucoma can lead to irreversible blindness if left untreated or uncontrolled. However, endogenous hypercortisolism-induced glaucoma can be reversed with treatment of the underlying CD. Thus, heightened awareness of extraocular manifestations of secondary causes of glaucoma such as endogenous hypercortisolism is necessary in order to promote prompt evaluation and treatment.

THE INFLUENCE OF METHALLIBURE (ICI 33,828) ON SERUM AND PITUITARY THYROID-STIMULATING HORMONE LEVELS IN THE RAT

1971 ◽  
Vol 49 (4) ◽  
pp. 569-572
Author(s):  
J. R. BOURKE ◽  
S. W. MANLEY ◽  
R. W. HAWKER
Keyword(s):  
Thyroid Stimulating Hormone ◽  
Feedback Mechanism ◽  
Seminal Vesicles ◽  
Endocrine Organs ◽  
System 1 ◽  
Dose Levels ◽  
Higher Doses ◽  
Serum Tsh ◽  
Tsh Levels ◽  
Stimulating Hormone

SUMMARY The effect of methallibure (ICI 33,828), a non-steroidal pituitary inhibitor, on serum and pituitary thyroid-stimulating hormone (TSH) levels has been investigated. A biphasic action of the drug on serum TSH levels was observed, the greatest falls occurring with the lowest doses (2mg/day). Increasing dose and period of administration induced progressive decreases in pituitary TSH content. These results are interpreted in terms of three actions on the thyroid—pituitary system: (1) inhibition of the release of TSH from the pituitary, (2) inhibition of TSH synthesis evident only at higher doses, and (3) a thyroid-blocking action, which is also only observed at the higher dose levels, with consequent pituitary stimulation via the thyroid—pituitary feedback mechanism. Effects upon body weight and weight of endocrine organs are reported, that upon the seminal vesicles being the most marked.

Hypothyroidism following Treatment for Head and Neck Cancer

1981 ◽  
Vol 90 (5) ◽  
pp. 449-453 ◽  
Author(s):  
Donald P. Vrabec ◽  
Timothy J. Heffron
Keyword(s):  
Radiation Therapy ◽  
Head And Neck ◽  
Thyroid Function ◽  
Elevated Serum ◽  
Thyroid Stimulating Hormone ◽  
Primary Hypothyroidism ◽  
Overt Hypothyroidism ◽  
Patient Will ◽  
Effects Of Radiation ◽  
Tsh Levels

One hundred ninety-six head and neck patients were studied to determine the effects of radiation therapy and surgery on thyroid function. Serum thyroid-stimulating hormone (TSH) levels were obtained as a screening test for primary hypothyroidism. Elevated TSH levels were found in 57 of the 196 patients (29.1%). The highest incidence of abnormal TSH values (66%) occurred in the group treated with combination radiation therapy and surgery, including partial thyroidectomy. TSH levels rose early in the posttreatment period with 60% of the abnormal values occurring within the first three posttreatment years. Posttreatment thyroid dysfunction was twice as common in women (48.6%) as in men (25.4%). When serum thyroxine levels by radioimmunoassay (T4RIA) were correlated with the elevated serum TSH levels, a similar pattern was seen with 65% of the patients in Group 3 having a decreased T4RIA level indicating overt hypothyroidism. Pretreatment levels of thyroid function including thyroid antibody studies should be established for all patients. Serial TSH levels should be done every three months during the first three posttreatment years and semiannually thereafter as long as the patient will return for follow-up care. All patients treated with combination radiation therapy and surgery who develop elevated TSH levels should be treated with thyroid replacement therapy. Patients receiving radiation therapy alone should receive replacement thyroid therapy if they develop a depressed T4RIA value or a pattern of gradually increasing TSH levels.

scholarly journals EFFECT OF PREANALYTICAL VARIABLES ON SERUM THYROID STIMULATING HORMONE ANALYSIS BY CHEMILUMINESCENCE METHOD

2021 ◽  
Vol 71 (Suppl-1) ◽  
pp. S102-05
Author(s):  
Ambreen Rehman ◽  
Naveed Asif ◽  
Saima Shakeel Malik ◽  
Waqas Sheikh ◽  
Quratulain . ◽  
...  
Keyword(s):  
Venous Blood ◽  
Armed Forces ◽  
Epidemiological Studies ◽  
Cross Sectional Study ◽  
Thyroid Stimulating Hormone ◽  
P Value ◽  
Cross Sectional ◽  
Specimen Handling ◽  
Tsh Levels ◽  
Stimulating Hormone

Objective: To identify effect of pre-analytical variables on serum thyroid stimulating hormone. Study Design: Cross sectional study. Place and Duration of Study: Armed Forces Institute of Pathology (AFIP) Rawalpindi, Department of Chemical Pathology & Endocrinology, from Mar 2018 to Aug 2018. Methodology: Hundred subjects with ages ranging from 18 to 34 years, irrespective of gender, were randomly selected for this study. Five milliliters venous blood sample was collected from each subject in a serum separator and divided into two aliquots. First aliquot was centrifuged and analyzed immediately for TSH, while second aliquot was stored for 24 hours and was then analyzed. TSH was measured by third generation assay usingchemiluminescence technique on ADVIA Centaur® XP. Serum TSH levels were also analyzed twice daily; in the morning (0800 to 0900 hours) and afternoon (1400 to 1600 hours). Data was analyzed using SPSS version 24. Frequency and percentages were calculated for qualitative variables like gender and pre-analytical variables. Test of significance Mann-Whitney U-test was applied and p-value <0.05 was taken as significant. Results: Mean age of subjects was 23 ± 3.4 years. Change in circadian rhythm was observed in 17 (28%) males and 14 (36%) females. Statistically significant association was found between morning and evening TSH levels, while no change was observed in TSH level by early and late centrifugation of samples. Conclusion: TSH levels vary significantly between blood samples collected at different timings of the day from the same person. TSH is resistant to degradation, immunologically stable, and reasonably insensitive to potential problems associated with routine specimen handling, when measured by immunoassay technique. Therefore, it is helpful in large epidemiological studies and small size laboratory, which require long transportation time and storage.

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