1/20. 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.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
2/20. Sporadic nonautoimmune congenital hyperthyroidism due to a strong activating mutation of the thyrotropin receptor gene.The de novo occurrence of germline-activating thyrotropin receptor (TSHR) gene mutations has been reported as the cause of sporadic nonautoimmune neonatal hyperthyroidism in eight children. We report the case of an Italian infant girl who presented at birth with severe hyperthyroidism and goiter. Ultrasonografic examination of the infant's thyroid showed a diffuse goiter with a normal echogenic pattern. serum antithyroglobulin, antithyroperoxidase, and antithyrotropin receptor antibodies were undetectable. Treatment with propylthiouracyl, propranolol, and saturated potassium iodide solution started at 44 days of life with the resolution of thyrotoxic symptoms. Once euthyroidism was achieved, the dose of propylthiouracyl was tapered, but hyperthyroidism recurred. Auxological parameters showed an acceleration of linear growth and bone age. dna was extracted from peripheral white blood cells of the patient, the sister, and the two parents. All of exon 10 of the TSHR gene was amplified by polymerase chain reaction (PCR) and subjected to direct sequencing. In the thyrotoxic infant girl, a substitution of cytosine to thymine was detected, changing isoleucine 568 into a threonine (1568T), located in the second extracellular loop. The normal sequence could also be detected, indicating heterozygosis of the mutated allele. This mutation was previously described as a somatic mutation in a patient with toxic thyroid adenoma. The sister and the parents of the propositus, all euthyroid, showed the wild-type TSHR gene. In conclusion, we describe a case of a de novo germinal mutation of the TSHR causing severe congenital hyperthyroidism.- - - - - - - - - - ranking = 0.0048112805972039keywords = bone (Clic here for more details about this article) |
3/20. Fluctuant, progressive hearing loss associated with Meniere like vertigo in three patients with the Pendred syndrome.OBJECTIVE: To evaluate vestibular and long-term audiometric findings in patients with Pendred syndrome. Study design: Retrospective analysis of long-term clinical data. SETTING: University hospital department. patients: Three patients with Pendred syndrome caused by a mutation in the SLC26A4 gene. methods: Perchlorate discharge test, mutation analysis of the SLC26A4 gene, MR imaging of temporal bones, vestibular function test (in two cases) and serial audiometry. A saturation hyperbola with onset age was fitted to the audiometric threshold-on-age data using a nonlinear regression method. The residues remaining after regression were analyzed in a correlation analysis to detect significant ipsilateral or contralateral cofluctuation. RESULTS: All three patients had a mutation in the SLC26A4 gene and bilateral enlarged vestibular aqueduct; two of them had a positive perchlorate discharge test but in one of two siblings this test was negative. hearing loss was significantly progressive with significant ipsilateral and contralateral cofluctuation in all evaluable cases, combined with episodes of Meniere like vertigo in two cases. The episodes of vertigo are as seen in meniere disease. One case had unilateral caloric areflexia and one had bilateral vestibular hyporeflexia, proven to be progressive in a repeat examination. CONCLUSIONS: patients with Pendred syndrome may exhibit progressive and fluctuant hearing loss with episodes of vertigo.- - - - - - - - - - ranking = 0.0048112805972039keywords = bone (Clic here for more details about this article) |
4/20. 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.- - - - - - - - - - ranking = 5keywords = endocrine (Clic here for more details about this article) |
5/20. 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.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
6/20. Pendred's syndrome with goiter and enlarged vestibular aqueducts diagnosed by PDS gene mutation.BACKGROUND: Pendred's syndrome (PS) is an autosomal recessive disorder characterized by goiter and congenital sensorineural hearing loss. Recent advances in molecular biology revealed the gene responsible for PS (PDS) and provided an important aid for the diagnosis of this condition. methods: A case of PS with huge goiter and congenital hearing impairment was diagnosed by mutational analysis of the PDS gene. RESULTS: physical examination and computer tomography CT revealed a diffuse swelling of the thyroid gland. thyroid function tests were normal, and the perchlorate discharge test was negative. Audiologic examination confirmed sensorineural hearing loss, and temporal bone CT revealed bilateral enlarged vestibular aqueducts. The mutational analysis revealed that the patient was homozygous for His 723 Arg (2168A-->G) in exon 19, a missense mutation. CONCLUSIONS: The results of thyroid function tests in PS patients are usually normal, and the positive perchlorate discharge test has been used for the diagnosis. However, this is a nonspecific test and is not sensitive enough for PS. In our case, despite a negative perchlorate test, the patient was diagnosed by mutational analysis and received total thyroidectomy to relieve respiratory distress caused by thyroid enlargement. This is the first report of a mutation detected in the thyroid tissue and clearly shows that the mutation caused histopathologic change in that gland.- - - - - - - - - - ranking = 0.0048112805972039keywords = bone (Clic here for more details about this article) |
7/20. A histologic study of nonmorphogenetic forms of hereditary hearing impairment.It appears that many forms of syndromic and nonsyndromic hereditary hearing impairment are secondary to either neuroepithelial or cochleosaccular dysfunction. Making this distinction can be difficult in human temporal bone specimens; however, this added knowledge may ultimately provide prognostic and therapeutic information in hearing habilitation. Fundamental studies using animal models of different types of hereditary deafness may also prove useful in this respect.- - - - - - - - - - ranking = 0.0048112805972039keywords = bone (Clic here for more details about this article) |
8/20. Case report: diagnosis of thyroid cancer by bone marrow biopsy in a patient with lymphoma and goiter.Metastatic follicular thyroid carcinoma was diagnosed by bone marrow biopsy performed during the staging evaluation in a patient with large-cell lymphoma and diffuse goiter who showed lung and bone lesions upon radiologic examination. After thyroidectomy, both sites concentrated radioactive iodine, confirming their thyroid origin and allowing for the appropriate treatment.- - - - - - - - - - ranking = 0.028867683583224keywords = bone (Clic here for more details about this article) |
9/20. 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.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
10/20. 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.- - - - - - - - - - ranking = 5keywords = endocrine (Clic here for more details about this article) |
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