Dataset Information

Hypothyroidism and multinodular goiter due to tubercular thyroiditis: A rare coexistence.

ABSTRACT:

Introduction and importance

the diagnosis of thyroid tuberculosis is often difficult, on account of its rarity even in countries with endemic tuberculosis, and on account of its non-specific clinical, biological and radiological presentation.

Case presentation

A 38-year-old woman presented with swelling in the anterior part of the neck for 7 years. Clinical and radiological examination found multinodular goiter and fine needle aspiration cytology showed colloidal cells with follicular cells. A total thyroidectomy was performed and histological examination of showed epithelioid and giganto-cellular granulomatous with caseous necrosis, confirming the diagnosis of tuberculous thyroiditis.

Clinical discussion

Tuberculosis of the thyroid gland is a very rare disease, the diagnosis is often made by fine needle aspiration cytology (FNAC), the treatment is mainly medical with antituberculosis drugs, but surgery remains a therapeutic means for some cases.

Conclusion

The diagnosis of thyroid TB should be suspected in the presence of a thyroid swelling or nodule, especially in countries with a high prevalence of TB, to allow for early and appropriate management.

SUBMITTER: Sbai AA

PROVIDER: S-EPMC9577845 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature

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Publications

Hypothyroidism and multinodular goiter due to tubercular thyroiditis: A rare coexistence.

Sbai Achraf Amine AA Draoui Najat N Tsen Adil Abdenbi AA Elayoubi Fahd F

Annals of medicine and surgery (2012) 20220916

<h4>Introduction and importance</h4>the diagnosis of thyroid tuberculosis is often difficult, on account of its rarity even in countries with endemic tuberculosis, and on account of its non-specific clinical, biological and radiological presentation.<h4>Case presentation</h4>A 38-year-old woman presented with swelling in the anterior part of the neck for 7 years. Clinical and radiological examination found multinodular goiter and fine needle aspiration cytology showed colloidal cells with follic ...[more]

PMID: 36268325

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Project description:Introduction: In the majority of countries, autoimmune thyroiditis is the main cause of acquired hypothyroidism in children. Typically, the natural course of the disease is initially insidious and the diagnosis is incidental. There are some children who develop severe hypothyroidism without a proper diagnosis. The aim of the study was to analyze the clinical and biochemical profiles of children with severe primary hypothyroidism due to autoimmune thyroiditis. Materials and Methods: We analyzed the records of 354 patients diagnosed between 2009 and 2019 with autoimmune thyroiditis. Only patients with TSH above 100 μIU/mL, associated with decreased free thyroxine and the presence of antithyroid antibodies, were enrolled in the study. The analysis encompassed clinical symptoms, thyroid and biochemical status, bone age, and imaging. Results: Twenty-six children were enrolled in the study. The mean age at diagnosis was 10.26 ± 3.3 years, with a female preponderance of 1.8:1. The most frequent symptom was growth impairment (77%) and weight gain (58%). Goiters were present in 42% of patients. Less common findings were pituitary hypertrophy (four patients) and hypertrichosis (three patients). Median values at the time of diagnosis were TSH 454.3 uIU/ml (295.0-879.4), anti-TPO antibodies 1,090 IU/ml, and anti-Tg antibodies 195 IU/ml. Anti-TSHR ab were evaluated only in six out of the 26 patients. The characteristic biochemical profile was correlated with the grade of hypothyroidism, and the strongest correlations were found with CBC parameters, lipid profile, aminotransferases, and creatine. Conclusion: In children with severe hypothyroidism, the most sensitive symptoms are growth arrest and weight gain despite the fact that, in some children, the auxological parameters at presentation could be within normal values for the population. The specific biochemical profile closely correlates to the severity of thyroid hormone deficiency and involves mostly erythropoiesis, liver function, and kidney function. Pituitary enlargement should be considered in each child with severe hypothyroidism. It is necessary to conduct prospective studies evaluating the actual frequency of anti-TSHR antibodies and pituitary enlargement in children with extremely high TSH, especially those presenting without goiters.

Project description:CONTEXT:Nontoxic multinodular goiter (MNG) is frequently observed in the general population, but little is known about the underlying genetic susceptibility to this disease. Familial cases of MNG have been reported, and published reports describe 5 families that also contain at least 1 individual with a Sertoli-Leydig cell tumor of the ovary (SLCT). Germline mutations in DICER1, a gene that codes for an RNase III endoribonuclease, have been identified in families affected by pleuropulmonary blastoma (PPB), some of whom include cases of MNG and gonadal tumors such as SLCTs. OBJECTIVE:To determine whether familial MNG with or without SLCT in the absence of PPB was associated with mutations in DICER1. DESIGN, SETTING, AND PATIENTS:From September 2009 to September 2010, we screened 53 individuals from 2 MNG and 3 MNG/SLCT families at McGill University for mutations in DICER1. We investigated blood lymphocytes and MNG and SLCT tissue from family members for loss of the wild-type DICER1 allele (loss of heterozygosity), DICER1 expression, and microRNA (miRNA) dysregulation. MAIN OUTCOME MEASURE:Detection of germline DICER1 gene mutations in familial MNG with and without SLCT. RESULTS:We identified and characterized germline DICER1 mutations in 37 individuals from 5 families. Two mutations were predicted to be protein truncating, 2 resulted in in-frame deletions, and 1 was a missense mutation. Molecular analysis of the 3 SLCTs showed no loss of heterozygosity of DICER1, and immunohistochemical analysis in 2 samples showed strong expression of DICER1 in Sertoli cells but weak staining of Leydig cells. miRNA profiling of RNA from lymphoblastoid cell lines from both affected and unaffected members of the familial MNG cases revealed miRNA perturbations in DICER1 mutation carriers. CONCLUSIONS:DICER1 mutations are associated with both familial MNG and MNG with SLCT, independent of PPB. These germline DICER1 mutations are associated with dysregulation of miRNA expression patterns.

Dataset Information

Hypothyroidism and multinodular goiter due to tubercular thyroiditis: A rare coexistence.

Introduction and importance

Case presentation

Clinical discussion

Conclusion

Publications

Hypothyroidism and multinodular goiter due to tubercular thyroiditis: A rare coexistence.

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