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Pendrin in the pathogenesisof congenital hypothyroidism
Banghová, Karolína ; Lebl, Jan (advisor) ; Límanová, Zdeňka (referee) ; Houšťková, Hana (referee) ; Stárka, Luboslav (referee)
Pendrin is an anion transporter that is expressed in several organs. In the thyroid gland, pendrin is localized at the apical pole of thyrocytes and it is responsible for the iodide efflux from thyrocytes into the colloid in the follicular lumen where iodide is organificated. The extrathyroidal expression was shown in the inner ear, kidney, placenta and mammary gland. Carriers of mutations in the pendrin gene (PDS, SLC26A4) display variable phenotypical features following the autosomal recessive manner of the inheritance: combined thyroid and hearing affection (Pendred syndrome - OMIM274600), nonsyndromic autosomal recessive neurosensory deafness (DFNB4 - OMIM600791) or isolated enlarged vestibular aqueduct (EVA - OMIM603545). The thyroid affection is usually manifested as euthyroid or hypothyroid goitre in the second decade of life. In a minority of patients, dyshormonogenesis is present at birth, and the disease is diagnosed in the frame of the nation-wide neonatal screening for congenital hypothyroidism.
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Progression of thyroid diseases in women with thyroid gland disorder diagnosed during pregnancy
Krejčová, Simona ; Springer, Drahomíra (advisor) ; Límanová, Zdeňka (referee)
Diploma thesis is based on a four-year study the goal which was to demonstrate on a group of pregnant and postpartum women the frequency and severity of thyroid disease in pregnancy and after childbirth, and thus support the introduction of screening of function thyreidopathias into normal practice within screening for congenital defects in first trimester of pregnancy. In 3937 sera from women in the 10th - 12 week of pregnancy were, with informed consent of pregnant, determined TSH and anti TPO, in the case of FT4 deviation. Of the total number of examined 6,4 % had TSH higher than 4,00 mIU/l, 4,2 % with TSH less than 0,1 mIU/l and 12,4 % of women with positive anti TPO antibodies. 552 women were recommended visiting endocrinology. 106 pregnant women came to be endocrinologically tested to Third Internal Clinic of VFN and 1st LF UK which is the equivalent to 19,2 % of all positive hits and 2,7 % of all investigated over the period. Only 56 women (52,8 %), came for subsequent checks in which the monitoring of the disease continued. After the endocrinologic examination in pregnancy 60,4 % of women was diagnosed with subclinical hypothyroidism. This subclinical form developed in 39 % of women into an overt hypothyroidism 24 - 30 months after childbirth. Overall, the disease progressed in 41.1% of women....
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Iodine status among pregnant diabetic women
Radiměřská, Veronika ; Jiskra, Jan (advisor) ; Límanová, Zdeňka (referee)
Inroduction: The target of practical part was to verify the concentration of iodine in the urine (UIC) and its relation to the other thyroid parameters in the blood of pregnant diabetic women in second or third trimester of pregnancy. Methods: We have measured UIC in 163 pregnant women screened positive for pregestational or gestational diabetes in second trimester of pregnancy. I have worked later with results from 154 of them. Currently, serum levels of autoantibodies against thyroid peroxidase (TPOAb) and thyroglobulin (TgAb), thyroid-stimulating hormone (TSH), free thyroxine (FT4) and trijotyronin (FT3) were determined. Results: Median UIC was 91,15 ug/L (range 67,7-112 ug/l). At 136/154 (88 %) women UIC was lower than 150 ug/L, median 86,95 ug/L (range 64,95-106,4) and at 90/154 (58 %) was lower than 100 ug/L. UIC in the range with mild iodine deficiency (50-149 ug/L) was measured at 117/154 (76 %) women and 19 (12,3 %) values were found in the range of moderate UIC deficiency (20-49 ug/L). No value of UIC was lower than 20 ug/L. At 7 (4,5 %) women were measured levels in the adequate range for pregnant women (150-249 ug/L). At 11 women (7,2 %) was UIC higher than 250 ug/L. Conclusion: At 88 % pregnant diabetic women in second or third trimester of pregnancy was identified UIC values at...
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Impact of Differentiated Thyroid Cancer Therapy Using Radioactive Iodine 131 on Salivary Gland Functional Performance
Krčálová, Eva ; Horáček, Jiří (advisor) ; Límanová, Zdeňka (referee) ; Kraft, Otakar (referee)
Background: Although radioactive iodine 131 (RAI) has been successfully used in differentiated thyroid cancer (DTC) patients therapy for more than 70 years, thus far published data regarding RAI- induced salivary glands functional impairment have been inconsistent. Due to the trend towards using lower activities or even RRA omission, the possible RAI untoward effects have been widely discussed. Aim: To evaluate and quantify salivary gland function in thyroidectomised DTC patients before and after RRA using activity of 3.7 GBq and to compare salivary gland functional changes in DTC patients after single or repeated RAI treatment (using activities 5.5 GBq) with their age- and sex-matched RAI-naive counterparts using salivary gland scintigraphy with 99m Tc- pertechnetate. In addition, we performed subjective symptoms evaluation. Patients and Methods: Salivary gland scintigraphy (SGS) was performed in 31 RAI-naive patients (6 men, 25 women, median age 52 years) before and 4.6 months after RRA. Salivary gland function was measured also in 23 patients (7 men, 16 women, median age 60 years) with RAI administration history and compared with their age- and sex-matched counterparts. Non-parametric Wilcoxon and Mann-Whitney tests were used (due to non-normal data distribution) for statistical analysis. A p...
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Determination of spontaneus abortions - the role of Apo E gene polymorphism, importance of selected congenital thrombophilias and thyroid function during the pregnancy
Kašparová, Dita ; Fait, Tomáš (advisor) ; Procházka, Martin (referee) ; Límanová, Zdeňka (referee)
Introduction: Spontaneous abortion (SA) is the most common complication in pregnancy. The aim of the study was to investigate the causality of selected genetic factors - Apolipoprotein E (Apo E) gene polymorphisms, factor V Leiden (FVL), Prothrombin (PT G20210A) and nongenetics factors - Thyroid stimulating hormone (TSH), free thyroxine (fT4), antibodies against thyroid peroxidase (a-TPO) in the role of early SA. Materials and methods: For genotyping of APO E polymorphism was used PCR-RFLP. The detection of mutations in genes FV and FII was performed using by HRM. Laboratory markers of thyroid (TSH, a-TPO and fT4) were determined by an automated analyzer using chemiluminescent immunoassay. Results: APOE genotypes of investigated group of 410 samples abortioned embryonic/ fetal tissues were not significantly different from 2 606 adult controls (P = 0.653). In observed infertile group of 75 women with isolated SA was FVL detected in heterozygous constitution with a prevalence of 12 %. The prevalence of FVL in a group of women with early insulated SA was significantly higher than 76 controls (12 % vs. 2.6 %, P = 0.031). The difference of PTG20210A prevalence between women with isolated SA and controls was not significant (4 % vs. 5.3 %, P = 1). The prevalence of elevated TSH levels (higher than 2.5...
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Radioactive iodine for Graves-Basedow thyreotoxicosis (optimization of dosage regimen)
Čepková, Jitka ; Horáček, Jiří (advisor) ; Zamrazil, Václav (referee) ; Límanová, Zdeňka (referee)
2 Summary Introduction: Despite more than 60 years' experience with radioactive iodine 131 I (RAI) treatment of Graves' disease (GD) the most appropriate dosing regimen is still controversial. Namely, there has been a lot of discussion comparing the individualized dose to the fixed dose (activity). Objective: The main objective of our research was to analyze the outcome of RAI therapy depending on the initial status of patients and to relate the success rate of RAI therapy to the fixed activity and to the adjusted dose. Our practical objective was to suggest the arrangement of dosing regimen in clinical use on the basis of researched data. Patients and methods: Retrospectively, we analyzed 603 patients with GD (500 women and 103 men, mean age 51.5 ± 12.7 years) treated with RAI in our thyroid unit between the years 1998-2012. According to recommended practice in the Czech Republic, most patients came with at least 1-year history of the disease, in the first or next relapse. Their antithyroid medication was withdrawn 4 days before RAI administration. Initially, RAI activity corresponding to dose ca. 3.2-6.2 MBq/g (adjusted to thyroid volume and 24-hour RAI accumulation) was used. Since 2001, we administered at least 6.5 MBq/g, median 8.5 MBq/g. The treatment was considered successful if patients were...
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Iodine status among pregnant diabetic women
Radiměřská, Veronika ; Jiskra, Jan (advisor) ; Límanová, Zdeňka (referee)
Inroduction: The target of practical part was to verify the concentration of iodine in the urine (UIC) and its relation to the other thyroid parameters in the blood of pregnant diabetic women in second or third trimester of pregnancy. Methods: We have measured UIC in 163 pregnant women screened positive for pregestational or gestational diabetes in second trimester of pregnancy. I have worked later with results from 154 of them. Currently, serum levels of autoantibodies against thyroid peroxidase (TPOAb) and thyroglobulin (TgAb), thyroid-stimulating hormone (TSH), free thyroxine (FT4) and trijotyronin (FT3) were determined. Results: Median UIC was 91,15 ug/L (range 67,7-112 ug/l). At 136/154 (88 %) women UIC was lower than 150 ug/L, median 86,95 ug/L (range 64,95-106,4) and at 90/154 (58 %) was lower than 100 ug/L. UIC in the range with mild iodine deficiency (50-149 ug/L) was measured at 117/154 (76 %) women and 19 (12,3 %) values were found in the range of moderate UIC deficiency (20-49 ug/L). No value of UIC was lower than 20 ug/L. At 7 (4,5 %) women were measured levels in the adequate range for pregnant women (150-249 ug/L). At 11 women (7,2 %) was UIC higher than 250 ug/L. Conclusion: At 88 % pregnant diabetic women in second or third trimester of pregnancy was identified UIC values at...
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Total two-year evaluation (2009 - 2010)of pilot project examination of thyroid gland function in group of pregnant women
Řehoř, Jiří ; Springer, Drahomíra (advisor) ; Límanová, Zdeňka (referee)
In the years 2009 and 2010 the pilot project investigating the function of the thyroid gland took place in 13 cities of the Czech Republic. In the context of the screening of congenital developmental defects the levels of TSH, FT4 and anti-TPO in serum were by women in the first trimester of pregnancy investigated, after signing informed consent. For the determination of analytes there were different analyzers used, which laboratories possess and are able to carry out the necessary examinations. Most of analyzers the reference intervals for TSH, FT4 and anti-TPO has set up from the manufacturer. These reference intervals are suitable for the normal population, neither less for pregnant women. Data from this project was evaluated using the newly calculated reference intervals for pregnant women, which are for the group of investigated women much more appropriate. From the total file of 3,484 pregnant women, it was thanks to these new reference intervals captured about 100 pregnant women with increased levels of TSH more, than in the use of reference intervals of producers. The comparison of reference intervals from the manufacturer with the newly calculated reference intervals for pregnant women managed to surface FT4 to find out about 126 more women below the surface of the new reference interval, than...
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Autoimmune thyroid disorders in pregnancy and after delivery (Regional screening of thyroid disorders in pregnancy)
Špitálníková, Sylvie ; Horáček, Jiří (advisor) ; Límanová, Zdeňka (referee) ; Zamrazil, Václav (referee)
Our universal screening revealed a relatively high prevalence of autoimmune thyroid disorders (AITD), namely Hashimoto's thyroiditis (HT) and postpartum thyroiditis (PPT), and incipient hypothyroidism in an unselected population of pregnant women from a chosen district, roughly similar to that in foreign studies. Most of the disorders recognized in this way were asymptomatic, and if only high-risk women, defined according to the recommended guidelines, were examined, a large proportion of pregnant women with thyroid disorders would be neither followed by an endocrinologist, nor treated. The universal screening for thyroid autoimmunity and dysfunction appears to be more beneficial for improving the care of pregnant and postpartum women and their children than limiting the testing on women with risk factors only. For the evaluation of TSH levels in pregnant women in the first trimester of pregnancy, the range 0.15-3.5 mIU/l appeared to be the most appropriate one with respect to the method used. On the basis of the results obtained, we believe that the use of the screening target of 3.5 mIU/l and the treatment target of 2.5 mIU/l in women identified as having HT brings satisfactory outcomes. Pregnant women who were treated properly and in time showed a lower occurrence of complications in pregnancy....
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