Cases reported "Goiter"

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1/19. A case of amyloid goiter secondary to Crohn's disease.

    We herewith report a case of amyloid goiter secondary to Crohn's disease. The patient had been diagnosed as having Crohn's disease at the age of 15, and underwent right hemicolectomy at age 20. When he was 26 years old he complained of swelling of the anterior neck. Both TSH and thyroid hormones were within the normal range, and anti-thyroglobulin and anti-microsomal antibodies were negative. Only thyroglobulin was noticeably above the normal range. During the next year his goiter enlarged further and because he had a feeling of pressure he underwent total thyroidectomy. The presence of amyloid A protein in his surgical specimen led to the diagnosis of amyloid goiter. Although most cases of secondary amyloidosis are known to develop in neoplasms or chronic inflammatory diseases, our patient had no illness other than Crohn's disease. Perusal of literature revealed that Crohn's disease is rarely a cause of amyloid goiter.
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ranking = 1
keywords = neoplasm
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2/19. Large goiter and multiple rib tumors.

    We report an interesting case of a 47-yr-old who had a large goiter and multiple rib tumors. The patient was initially suspected of having thyroid cancer, which had metastasized on the ribs, based on imaging studies. However, laboratory tests revealed a high level of ionized calcium and parathyroid hormone (PTH). The large goiter was diagnosed as having parathyroid tumors owing to the high level of PTH in the tissue fluid. The biopsy specimen from a rib tumor was diagnosed as containing brown tumors associated with primary hyperparathyroidism (PHP). The patient also had prolactinoma and pancreatic gastrinoma. Her daughter had both prolactinoma and PHP, and her brother and her father had PHP. Thus, the patient was diagnosed as having multiple endocrine neoplasia type 1.
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ranking = 5050.8624481002
keywords = multiple endocrine, endocrine neoplasia, multiple endocrine neoplasia, endocrine
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3/19. Amyloid goiter as the initial manifestation of systemic amyloidosis due to familial mediterranean fever with homozygous MEFV mutation.

    We describe a case of amyloid goiter revealing a systemic amyloidosis secondary to familial mediterranean fever (FMF) with homozygous MEFV mutation, and we review the literature. A 45-year-old euthyroid Sephardic man, known to suffer from FMF, developed a goiter with cold nodule, after which a subtotal thyroidectomy was performed. Histologic evaluation revealed diffuse AA amyloid deposition without any associated thyroid neoplasia. At that time, no other organ was found to be affected by amyloidosis. colchicine and levothyroxine were prescribed. Eight years later, the patient presented with a rapidly growing neck enlargement. He reported that he had discontinued colchicine therapy 2 years earlier. The serum thyrotropin (TSH) and calcitonin levels were normal. Renal, digestive, and salivary gland biopsies confirmed the presence of systemic AA amyloidosis. Despite the reintroduction of colchicine, the onset of compressive symptoms led to the completion of the total thyroidectomy. The histopathology again demonstrated amyloid deposition, and excluded a malignant neoplasm. Nine cases of amyloid goiter associated with FMF have been reported in the literature; none of them had an amyloid goiter as the first manifestation of systemic amyloidosis. To our knowledge, this is the first case of FMF in which an amyloid goiter preceded the development of secondary systemic amyloidosis. The cessation of colchicine therapy may have played a role in local relapse and the secondary spread of amyloid deposits.
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keywords = neoplasm
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4/19. A case of multiple endocrine neoplasia type 2b undiagnosed for many years despite its typical phenotype.

    We report the case of a 24-yr-old man with a typical phenotype of multiple endocrine neoplasia type 2b (MEN 2B). The patient had previously undergone minor surgery to remove multiple tumors on the lip, but he had no further examinations. MEN 2B was suspected owing to characteristic multiple ganglioneuromatosis when the patient presented with a goiter associated with high levels of plasma calcitonin and CEA. Aspiration biopsy cytology revealed medullary thyroid carcinoma (MTC), and abdominal computed tomography and nuclear scanning with metaiodobenzylguanidine revealed bilateral adrenomedullary tumors. Adrenomedullary function tests showed high levels of serum and urinary fractionated catecholamines, and genetic analysis showed a point mutation in the codon 918 (M918T) of the RET gene. The patient was diagnosed with MEN 2B and underwent right adrenalectomy and total thyroidectomy. No distant metastasis of the MTC was noted although MEN 2B had remained undiagnosed since the ganglioneuromatosis was first noticed. MEN 2B is a rare hereditary disorder, but the occurrence of characteristic ganglioneuromatosis was quite helpful in making the diagnosis.
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ranking = 25254.312240501
keywords = multiple endocrine, endocrine neoplasia, multiple endocrine neoplasia, endocrine
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5/19. Amyloid goiter in familial mediterranean fever (FMF): a clinicopathologic study of 10 cases.

    FMF amyloidosis is an important etiological factor of end stage renal disease (ESRD) in Mediterranean Countries. Apart from major target organs as cardiovascular, respiratory and gastrointestinal system, endocrine organs can also be involved. We planned to investigate the thyroid involvement in our amyloidosis group. The aim of this study was to determine clinical characteristics of amyloid goiter in FMF patients and the abnormalities of thyroid function, as well as to identify pathologic characteristics. Twenty-two hemodialysis patients (mean age 34.1 /- 14 years, range 17-68) whose ESRD secondary to FMF amyloidosis were evaluated with physical examination, serum levels of thyroid hormones, ultrasound examination of thyroid glands, thyroid syntigraphic studies. goiter was found in 10 patients (4 male, 6 female) having enlarged neck mass (mean age 35 /- 14 years, range 23-64). The serum levels of thyroid hormones and TSH were normal in 4 patients. Other four cases had euthyroid sick syndrome. Only one patient developed tender enlarged neck mass with subacute thyroiditis symptoms and one had primary hyperthyroidism. Ultrasound examination showed; hypoecoic nodules in 6 patients diffuse multinodular enlargement in 4 patients. Thyroid syntigraphic studies revealed hypoactive nodules in 7 patients and hyperactive nodules in 3 patients. After the laboratory tests were completed, in 10 patients diagnosis were made with fine needle aspiration biopsy. Of 10 patients 5 underwent subtotal thyroidectomy. Immunohistochemical evaluation demonstrated the presence of amyloid AA immunoreactivity in all cases. In conclusion fine needle aspiration from the thyroid when enlarged is useful in the diagnosis of suspected amyloidosis, especially since it is a safe, easily performed procedure. With the help of amyloid goiter diagnosis the patient's prognosis on hemodialysis and with renal transplantation can be predicted. Amyloid goiter must be searched in hemodialysis patients especially in Mediterranean Countries.
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ranking = 472.6988156006
keywords = endocrine
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6/19. Inferior laryngeal paraganglioma presenting as plunging goiter.

    Paragangliomas are uncommon slow-growing neuroendocrine tumors that may arise from the extra-adrenal paraganglia. Paragangliomas of the inferior and superior laryngeal paraganglia are known as laryngeal paraganglioma. Inferior laryngeal paraganglioma, which is also called subglottic paraganglioma, is very seldomly observed. To our knowledge only 24 patients with subglottic paraganglioma have been found. We present a 77-year-old male patient who has been previously followed-up for cervical goiter, which has a progressive enlargement into the mediastinum, causing severe tracheal obstruction. The tumor was completely and easily resected via median sternotomy with collar incision and finally diagnosed as inferior laryngeal paraganglioma. The present case is the first subglottic laryngeal paraganglioma descending into the visceral compartment of the mediastinum in the literature.
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ranking = 472.6988156006
keywords = endocrine
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7/19. Follicular carcinoma of the thyroid with hyperthyroidism. A case report.

    BACKGROUND: Follicular carcinoma of the thyroid in association with hyperthyroidism is rare. The malignant lesion may remain occult for a long time. Certain clinical and cytologic features may be helpful in raising the alarm. CASE: An elderly male with a history of occupational exposure to X rays, long-standing toxic multinodular goiter and clinical hyperthyroidism presented with a rapidly enlarging mass in the neck. Cytologic smears showed a prominent microfollicular pattern, scanty colloid, anisonucleosis and nuclear overlapping. The noteworthy feature was the presence of marginal vacuoles. The cytologic diagnosis of follicular neoplasm with highly suggestive malignancy was made. Subsequently, multiple pulmonary nodules provided radiologic evidence of possible metastatic spread. CONCLUSION: This case report demonstrates the rare association of follicular carcinoma of the thyroid with hyperthyroidism and analyzes certain high-risk clinical and cytologic features to be considered in the follow-up of long-standing hyperfunctioning multinodular goiter.
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ranking = 1
keywords = neoplasm
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8/19. Synchronous thyroid pathology in patients presenting with primary hyperparathyroidism.

    BACKGROUND: Thyroid and parathyroid pathology may coexist; classically, this is described in multiple endocrine neoplasia. Other nonsyndromic scenarios result in pathologies of these endocrine organs coexisting. This can create a challenge in the clinical decision making and management of these patients. It is optimal to deal with both problems in one operative procedure, if surgery is required. methods: A retrospective review of cases of synchronous thyroid and parathyroid pathology that were managed surgically over a 3-year period by a single endocrine surgeon at a single university medical center. RESULTS: Seventeen cases of synchronous thyroid and parathyroid disease were discovered. All required surgical management of thyroid and parathyroid conditions. Reasons included removal of thyroid goiter for access to an adenoma, worrisome thyroid lesions coexistent with a parathyroid adenoma, and an intrathyroid parathyroid adenoma. Cases of incidental discovery of a second endocrine condition while the first was evaluated will be reported. CONCLUSIONS: A head and neck endocrine surgeon needs to be aware of the possible coexistence of thyroid and parathyroid pathologies so that, when encountered, they can be safely and efficiently managed in a single procedure.
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ranking = 6941.6577105026
keywords = multiple endocrine, endocrine neoplasia, multiple endocrine neoplasia, endocrine
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9/19. Cytological features of dyshormonogenetic goiter: case report and review of the literature.

    Dyshormonogenetic goiter is a rare cause of congenital goiter occurring due to a lack of enzymes necessary for the synthesis of thyroid hormones. We present a case of dyshormonogenetic goiter diagnosed on cytology. Correlation with the history, clinical findings, levels of thyroid hormones and other investigations is imperative for the diagnosis. The degree of hyperplasia is severe enough to prompt a diagnosis of malignancy, particularly follicular neoplasm. An accurate diagnosis helps to constitute proper therapy and prevents surgery.
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ranking = 1
keywords = neoplasm
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10/19. Hypercalcitoninemia in a patient with a recurrent goitre and insulinoma: a case report.

    serum calcitonin has become a very sensitive and specific marker for medullary thyroid carcinoma that should be determined in patients with nodular thyroid disease. However, a few earlier reports indicated that tumors other than medullary thyroid carcinoma including insulinomas arising from pancreatic islet cells may also produce calcitonin. Of the few cases of calcitonin-producing insulinomas previously reported, most had incomplete data or lack of documentation of the association between raised serum calcitonin concentration and immunohistochemical detection of calcitonin in pancreatic islet cell tumors. In this paper we are reporting a 54-year-old woman with a history of partial thyroidectomy for multinodular goitre at the age of 50 yrs, she was evaluated for a 2-months history of fasting hypoglycemia (plasma glucose 1.9 mmol/L during a supervised fast), raised serum insulin (at the time of hypoglycemia 88.8 microU/ml; normal, 5 - 35 microU/ml) and c-peptide levels (at the time of hypoglycemia 6.1 ng/ml; normal, 1.37 - 3.51 ng/ml), markedly increased serum calcitonin concentration (481 pg/ml; normal, < 9.9 pg/ml), and an enlarged residual thyroid gland. Aspiration biopsy of the thyroid was negative for parafollicular C-cell hyperplasia or medullary thyroid carcinoma. Abdominal ultrasound and CT scan revealed a tumor in the head of the pancreas, which was surgically removed. Histopathological evaluation of the pancreatic tumor showed typical features of a neuroendocrine neoplasm with strong immunostaining for both insulin and calcitonin. After removal of the pancreatic tumor, clinical symptoms resolved and biochemical markers normalized (serum insulin, 14.9 microU/ml; c-peptide, 3.0 ng/ml; calcitonin, 2.9 pg/ml) confirming the causal relationship between insulinoma and markedly increased serum calcitonin levels.
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ranking = 473.6988156006
keywords = endocrine, neoplasm
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