Natural History of Thyroid Disease in Children with PTEN Hamartoma Tumor Syndrome

2020 ◽  
Author(s):  
Jessica R Smith ◽  
Enju Liu ◽  
Alanna J Church ◽  
Elizabeth Asch ◽  
Christine E Cherella ◽  
...  
Keyword(s):  
Natural History ◽  
Thyroid Nodule ◽  
Thyroid Disease ◽  
Autoimmune Thyroid Disease ◽  
Thyroid Nodules ◽  
Ultrasound Screening ◽  
Thyroid Ultrasound ◽  
Autoimmune Thyroid ◽  
Pten Hamartoma Tumor Syndrome ◽  
History Of

Abstract Context Thyroid ultrasound screening is recommended in children with PTEN hamartoma tumor syndrome (PHTS) due to increased risk of thyroid neoplasia, but the natural history of thyroid disease in children with PHTS is unclear. Objective Determine the prevalence and natural history of thyroid disease in children with PHTS. Design Retrospective cohort study (1998-2019). Setting Academic pediatric hospital. Patients Individuals with genetically confirmed PHTS diagnosed before age 19 years. Interventions Description of clinical, thyroid ultrasound, and laboratory characteristics. Main Outcome Measures Prevalence of thyroid nodules ≥10mm diameter, and time course and risk factors for nodule development, assessed by Cox regression analysis. Secondary outcomes included thyroid nodule requiring biopsy, other ultrasound findings, and prevalence of autoimmune thyroid disease. Results Among 64 subjects with PHTS, 50 underwent thyroid ultrasound. A thyroid nodule ≥10mm was diagnosed in 22/50 (44%) subjects at median (range) age 13.3 (7.0-22.9) years. Nodules were diagnosed earlier in females than in males [10.8 (7.0-17.9) vs. 14.2 (9.9-22.9) years, p=0.009]. In multivariate analysis, risk of thyroid nodules was significantly associated with female sex (HR 2.90, 95% CI 1.16-7.27, p=0.02) and inversely associated with the presence of neurological findings of PHTS (HR 0.27, 95% CI 0.10-0.69, p=0.007). Abnormal-appearing lymph nodes with echogenic foci were observed by ultrasound in 20% of subjects, but these were not associated with malignancy. Autoimmune thyroid disease was present in 10/33 (30.3%) of subjects in whom it was assessed. Conclusion Thyroid disease is common in children with PHTS. This study supports current consensus recommendations for ultrasound screening.

scholarly journals Family History of Autoimmune Thyroid Disease

2013 ◽  
Vol 9 (4) ◽  
pp. 39 ◽  
Author(s):  
O D Rymar ◽  
A K Pyankova ◽  
V N Maksimov ◽  
S V Mustafina
Keyword(s):  
Family History ◽  
Thyroid Disease ◽  
Autoimmune Thyroid Disease ◽  
Autoimmune Thyroid ◽  
History Of

scholarly journals Prevalence of Cancer in Patients with Thyroid Nodules in the Island of Cyprus: Predictive Value of Ultrasound Features and Thyroid Autoimmune Status

2015 ◽  
Vol 4 (2) ◽  
pp. 123-128 ◽  
Author(s):  
Irini S. Hadjisavva ◽  
Roberto Dina ◽  
Michael A. Talias ◽  
Panayiotis A. Economides
Keyword(s):  
Thyroid Carcinoma ◽  
Thyroid Disease ◽  
Autoimmune Thyroid Disease ◽  
Thyroid Nodules ◽  
Thyroid Autoimmunity ◽  
Needle Aspiration ◽  
Autoimmune Thyroid ◽  
Antithyroglobulin Antibodies ◽  
Prevalence Of Cancer ◽  
Ultrasound Features

Background: The purpose of this study was to determine the prevalence of thyroid carcinoma in patients who underwent ultrasound-guided fine needle aspiration biopsy (USgFNA) of thyroid nodules in the island of Cyprus. Ultrasound features as well as the presence of autoimmune thyroid disease were evaluated as risk factors for malignancy. Methods: 322 consecutively examined patients (272 females/50 males, age 13-81) underwent USgFNA of thyroid nodules in a referral endocrine clinic between July 2007 and July 2009. The ultrasonographic characteristics examined were: echogenicity, margin irregularity, composition, calcifications, presence of increased vasculature and nodule size. The presence or absence of autoimmune thyroid disease was recorded. Results: From the 548 nodules examined, 74 (13.6%) were classified as THY3, 4 or 5. 75 patients (123 nodules) underwent surgical resection. 46 patients (64 nodules) proved to have thyroid carcinoma by histology. There was a significant correlation of suspicious/malignant cytology with solid composition, hypoechogenicity, irregular margins and the presence of calcifications. A significant association was also noted between the presence of positive antithyroglobulin antibodies (p < 0.05) and Graves' disease (p = 0.01) with suspicious/malignant cytology. Conclusion: The overall prevalence of thyroid cancer was 14.3%. Ultrasound characteristics were highly predictive of thyroid malignancy. Thyroid autoimmunity should be considered as a risk factor.

scholarly journals Autoimmune Thyroid Disease, Thyroid Functions, and Thyroid Ultrasonography in Pediatric Celiac Disease

2020 ◽  
Vol 7 (11) ◽  
pp. 680-683
Author(s):  
Şükrü Şahin ◽  
Filiz Demir Şahin
Keyword(s):  
Celiac Disease ◽  
Thyroid Function ◽  
Thyroid Disease ◽  
Autoimmune Thyroid Disease ◽  
Thyroid Nodules ◽  
Gluten Free Diet ◽  
Control Group ◽  
Thyroid Function Tests ◽  
Gluten Free ◽  
Autoimmune Thyroid

Objective: To compare thyroid function tests, autoantibodies and ultrasound findings in pediatric celiac patients following a gluten-free diet with the non-celiac control group. Material and Methods: The data of 64 celiac patients (median age 11 years) followed up with a gluten-free diet in the pediatric outpatient clinic and 143 control patients were retrospectively reviewed. The patient group consisted of 18 men, 46 women, and the control group 39 men and 103 women. The age range of the cases was 6-17 years. The duration of gluten-free diet was between three months and 15 years (median four years). The diagnosis of celiac disease was made according to the criteria of the European Society for Paediatric Gastroenterology, Association of Hepatology, and Nutrition. Free thyroxin, thyroid stimulating hormone (TSH), anti-thyroid peroxidase (anti-TPO), and antithyroglobulin (anti-Tg) levels were measured. In the thyroid ultrasound, gland volume, parenchymal structure, and thyroid nodules were evaluated. The positivity of thyroid autoantibodies and a heterogeneous appearance on ultrasound were assessed in favor of thyroiditis. The findings were compared between the celiac and control groups. Results: Autoimmune thyroid disease was seen in 12.5% of celiac patients and 4.2% of the controls (p<0.05). The rate of abnormalities in thyroid function tests was 9.3% in the celiac group and 2.8% in the control group (p=0.05). The mean thyroid volume was 3.58 ml in celiac patients and 3.95 ml in controls (p>0.05). The parenchymal heterogeneity was 12.5% in the celiac group and 2.1% in the control group (p<0.05), and the incidence of thyroid nodules was 25% and 4.2%, respectively (p<0.05). Conclusion: The autoimmune thyroiditis and thyroid dysfunction is more frequent in children with celiac disease. In addition, heterogeneous parenchyma and thyroid nodules are more common than the normal population on ultrasound. Celiac patients should be carefully evaluated for possible thyroid disease.

scholarly journals Pretibial myxedema in a euthyroid patient without history of autoimmune thyroid disease

2016 ◽  
Author(s):  
Panagiotis Anagnostis ◽  
Aikaterini Artzouchaltzi ◽  
Alexandra Grekou ◽  
Dimitrios Stogiannou ◽  
Anastasia Skalkou ◽  
...  
Keyword(s):  
Thyroid Disease ◽  
Autoimmune Thyroid Disease ◽  
Autoimmune Thyroid ◽  
History Of ◽  
Euthyroid Patient ◽  
Pretibial Myxedema

A Japanese Family with DICER1 Syndrome Found in Childhood-Onset Multinodular Goitre

2020 ◽  
pp. 1-6
Author(s):  
Keisuke Nagasaki ◽  
Nao Shibata ◽  
Hiromi Nyuzuki ◽  
Sunao Sasaki ◽  
Yohei Ogawa ◽  
...  
Keyword(s):  
Natural History ◽  
Thyroid Nodule ◽  
Total Thyroidectomy ◽  
Thyroid Nodules ◽  
Lung Metastases ◽  
Germ Cell Tumour ◽  
Maternal Grandmother ◽  
Multinodular Goitre ◽  
Childhood Onset ◽  
History Of

<b><i>Introduction:</i></b> Germline <i>DICER1</i> mutations have recently been identified in familial multinodular goitre (MNG). The natural history of thyroid nodules in <i>DICER1</i> carriers in children is unclear. The purpose of this study was to describe the clinical and genetic findings of childhood-onset MNG with <i>DICER1</i> carrier in a patient who underwent total thyroidectomy. <b><i>Case Presentation:</i></b> The 6-year-old proband had a thyroid nodule, and the number and size of nodules increased over 3 years. A total thyroidectomy was chosen because of the rapid rise in thyroglobulin levels, discomfort when swallowing, and the mother’s history of poorly differentiated thyroid cancer (PDTC). Histopathology revealed adenomatous goitre without malignant cells. Her mother, maternal aunt, and maternal grandmother also had thyroid nodules removed during adolescence. Also, her mother had PDTC with lung metastases, and her maternal aunt had an ovarian germ cell tumour. <i>DICER1</i> mutation analysis identified a heterozygous novel nonsense mutation (c.4509C&#x3e;G, p.Y1503X) for the patient, her mother, her maternal grandmother, and her asymptomatic elder brother. Y1503X was identified in all resected thyroid tissues, while heterozygous D1709G, D1810V, and E1813K mutations were identified in individual nodules. <b><i>Discussion/Conclusion:</i></b> A thyroid nodule was detected in chemotherapy- or radiotherapy-naïve patient with <i>DICER1</i> carrier aged 6 years, and MNG developed over 3 years. This pedigree highlights the natural history of nodular disease in <i>DICER1</i> carriers and identifies a possible association between <i>DICER1</i> and more aggressive malignancies.

scholarly journals Two Cases of Severe Autoimmune Thyrotoxicosis Following SARS-CoV-2 Infection

2021 ◽  
Vol 9 ◽  
pp. 232470962110564
Author(s):  
Khary Edwards ◽  
Iram Hussain
Keyword(s):  
Thyroid Disease ◽  
Autoimmune Thyroid Disease ◽  
Previous History ◽  
Thyroid Storm ◽  
Graves Disease ◽  
Angiotensin Converting Enzyme 2 ◽  
Autoimmune Thyroid ◽  
History Of ◽  
Potential Trigger ◽  
New Onset

Since the start of the COVID-19 pandemic, there have been multiple reports of related thyroid dysfunction, most commonly, thyroiditis. The exact mechanism for this has not been elucidated, but it is known that thyroid gland cells have both angiotensin-converting enzyme 2 (ACE2) and transmembrane protease serine 2 (TMPRSS2) receptors, which the SARS-CoV-2 virus uses to enter cells. While SARS-CoV-2 has also been shown to precipitate other autoimmune diseases, there are only a few reported cases of new onset Graves’ disease in the setting of SARS-CoV-2 infection. We report 2 patients who presented with severe thyrotoxicosis (thyroid storm and impending storm) that was likely precipitated by SARS-CoV-2 infection. Both patients had no previous history of hyperthyroidism, and potentially also developed Graves’ disease after getting COVID-19. The addition of these cases to the medical literature will further highlight the fact that SARS-CoV-2 infection should be considered a causative agent for thyrotoxicosis when no other cause can be found, and that SARS-CoV-2 may be a potential trigger for autoimmune thyroid disease. It is important to know the SARS-CoV-2 status of such patients for infection control purposes, and to identify patients who may have their hospital course complicated by this disease. These cases may also help further our understanding of the etiology of autoimmune thyroid disease following a viral infection.

scholarly journals A case of primary biliary corrhosis and adenomatous goiter in a patient with a family history of autoimmune thyroid disease.

Kanzo ◽  
1992 ◽  
Vol 33 (3) ◽  
pp. 259-264
Author(s):  
Takehiro NOZAKI ◽  
Hiroshi TSUJI ◽  
Ken OKAMURA ◽  
Kensuke NOMIYAMA ◽  
Yutaka TAKADA ◽  
...  
Keyword(s):  
Family History ◽  
Thyroid Disease ◽  
Autoimmune Thyroid Disease ◽  
Autoimmune Thyroid ◽  
Adenomatous Goiter ◽  
History Of

Besondere Manifestationsformen der Autoimmunthyreopathie

Praxis ◽  
2002 ◽  
Vol 91 (27) ◽  
pp. 1151-1160
Author(s):  
Fajfr ◽  
Müller
Keyword(s):  
Thyroid Disease ◽  
Autoimmune Thyroid Disease ◽  
Chromosome 6 ◽  
Autoimmune Thyroid

Les maladies thyroïdiennes auto-immunes ou immunes (autoimmune thyroid disease, AITD) sont relativement fréquentes. Le terme de AITD comprend les thyréodites euthyroidiennes ou hypothyroïdiennes de Hashimoto avec ou sans goitre, les hyperthyroïdies classiques de Basedow et leurs variantes nettement plus rares euthyroïdiennes ou hypothyroïdiennes. Aucune des nombreuses classifications des AITD n'a pu s'imposer sur le plan international. La pathogénèse de toutes les formes d'AITD comprend une perturbation de la tolérance immune chez les individus prédisposés génétiquement (séquence HLA-DQAI*0501 sur le bras court du chromosome 6) qui provoque un processus auto-immun contre la glande thyroïdienne. Ces processus sont soit destructeurs ou inhibiteurs, soit stimulateurs, ce qui permet d'expliquer les formes très différentes de AITD. Dans de cas rares, ces processus peuvent se contrebalancer («balance hypotheseis»). Les anticorps anti-récepteurs TPO et TSH (TRAK) ont une place particulière dans le diagnostic des AITD. Les dosages de routine utilisent pour la mesure des TRAK des récepteurs qui ne peuvent pas différencier entre les anticorps stimulants ou bloquants contre les récepteurs TSH. C'est, entre autre pour ces raisons, que les résultats d'anticorps positifs ne sont utilisables qu'en connaissance de la clinique et / ou des paramètres de la fonction thyroïdienne. Ce travail présente quatre patients avec des formes plus complexes d'AITD et résume les connaissances actuelles.

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