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Autosomal recessive inheritance of goiter in Dutch goats.

The inheritance of congenital goiter due to a thyroglobulin synthesis defect in a strain of Dutch goats has been studied by Mendelian and biochemical methods. Mendelian analysis of 301 matings, resulting in 591 kids, showed an autosomal recessive mode of inheritance. A restriction fragment length polymorphism (RFLP) in the thyroglobulin gene also was used to confirm the recessive mode of inheritance of the defect. In a pedigree consisting of 27 goats, spanning four generations, the genotype determined by RFLP study was in accordance with the observed phenotype and the autosomal inheritance of the defect. Although phenotypically no differences were detected between normal and heterozygous animals, the use of RFLPs allowed the diagnosis of the three genotypes.

Animals↗

Ultrastructural aspects of the goiter in cog/cog mice.

Thyroids of congenitally goitrous (cog/cog) mice were studied with light and electron microscopy. The principal alteration in follicular cells was their largely overdistended rough endoplasmic reticulum (RER). Our findings resemble the ultrastructural features of human hypothyroid goiter caused by a thyroglobulin (TG) defect and thus support the previously suggested abnormalities of TG synthesis and/or processing in cog/cog mice.

Animals↗

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.

Bone Marrow Diseases↗

Severe thyrotoxicosis caused by an ectopic intrathoracic goiter.

The case of a 71-year-old woman with severe thyrotoxicosis due to an ectopic multinodular intrathoracic goiter is described. Previously reported cases with intrathoracic ectopic thyroid tissue were either nontoxic, or, if thyrotoxic, were a direct continuation of the tissue of the normally located gland. This mass was proved to be of thyroid origin using Tc-99m sodium pertechnetate scanning.

Aged↗

Familial dysalbuminemic hyperthyroxinemia associated with multinodular goiter and elevated radioiodine uptake. A case report.

Familial dysalbumenic hyperthyroxenemia characterized by elevations in serum total thyroxine (T4) and free-thyroxine index and normal free T4 and radioiodine uptake has been previously described. This syndrome is secondary to an autosomal dominant inheritance in which affected individuals are mistakenly diagnosed as thyrotoxic because of the elevation of serum levels of total T4 and free T4. The excess T4 level is caused by the presence of an abnormal serum protein that binds excess T4, thereby raising the level of total T4. The authors report the case of a patient with familial dysalbumenic hyperthyroxenemia who presented with superimposed multinodular goiter and an elevated 24-hour radioiodide uptake.

Aged↗

Uptake of In-111 pentetreotide by normally functioning nodular goiters.

After the intravenous administration of a radiolabeled somatostatin analogue (octreotide), normal thyroid and neoplastic and nonneoplastic thyroid lesions can be visualized. The authors present the cases of two patients who underwent somatostatin receptor scintigraphy (SSRS) using In-111 pentetreotide: one for the study of suspected paraneoplastic ACTH hypersecretion, and the other for a restaging of breast carcinoma with neuroendocrine features. In both patients, SSRS revealed increased uptake in the thyroid, corresponding to "cold" nodules on Tc-99m pertechnetate imaging. Cytologic and histologic examinations showed the typical features of thyroid goiters without lymphocytic infiltration.

Adenoma↗

Reverse discordant scintigraphy in diffuse goiter.

Both Tc-99m pertechnetate and radioactive iodine (I-123 NaI or I-131 NaI) are useful in thyroid scintigraphy. These radiopharmaceuticals yield similar functional information in most patients. Occasionally, however, discordant results have been reported in the literature (warm or hot on the pertechnetate image and cold on the radioiodide image). Most of these reports have concerned the solitary thyroid nodule. A case is presented here with diffusely decreased Tc-99m pertechnetate uptake and normal I-131 NaI uptake in a patient with a diffuse goiter and subclinical hyperthyroidism, so-called reverse discordant behavior.

Goiter↗

Comparison between 99mTc-tetrofosmin/pertechnetate subtraction scintigraphy and 99mTc-tetrofosmin SPECT for preoperative localization of parathyroid adenoma in an endemic goiter area.

RATIONALE AND OBJECTIVES: Technetium-99m-((99m)Tc-) tetrofosmin, a cationic, lipophilic complex like (99m)Tc-sestamibi, has proved to be a potential tracer for parathyroid scintigraphy despite some differences in washout behavior from the thyroid gland. Previous results comparing a double-phase technique with single-proton emission computed tomography (SPECT) or with subtraction techniques demonstrated a high detection rate, especially when SPECT and subtraction techniques were used, whereas the double-phase protocol revealed only moderate results. In this study, a direct comparison was made between (99m)Tc-tetrofosmin/pertechnetate subtraction and SPECT to elucidate the optimal protocol for tetrofosmin parathyroid imaging. METHODS: Twenty-three patients who were biochemically suspected of parathyroid adenoma or hyperplasia due to primary or tertiary hyperparathyroidism were included in our study. In all patients, serum calcium, phosphate, and intact parathormone levels were analyzed in a single blood sample before (99m)Tc-tetrofosmin/pertechnetate subtraction scintigraphy and SPECT. Ultrasound of the neck was performed in all patients to exclude false-positive results due to thyroid adenomas. All patients underwent parathyroidectomy with intraoperative revision of all parathyroid glands, and the histological results were compared with preoperative findings. RESULTS: Both imaging modalities, ie, subtraction scintigraphy and SPECT, correctly identified 20 of 23 (87%) histologically confirmed adenomas preoperatively. The positive predictive value was calculated to be 95% and 100%, respectively, for these two methods. Subtraction scintigraphy and SPECT showed concordant results in 19 patients (18 positive, 1 false-negative) and discordant results in 4 patients (2 positive with subtraction, 2 with SPECT). The combined use of subtraction scintigraphy and SPECT techniques revealed a sensitivity of 95.7% (22/23) and a positive predictive value of 95%. The whole procedure can be performed in less than 90 minutes per patient. Whereas subtraction scintigraphy tended to show more false-positive retentions due to thyroid adenomas, the interpretation of SPECT may be difficult in small adenomas with missing thyroid/parathyroid differential washout. CONCLUSIONS: Both imaging modalities, subtraction scintigraphy with pertechnetate and SPECT, are highly sensitive methods for parathyroid adenoma localization with (99m)Tc-tetrofosmin. However, our study did demonstrate that a combination of both modalities can further improve the diagnostic accuracy. Especially in an endemic goiter area, additional ultrasound may be required to avoid false-positive results due to thyroid adenomas.

Adenoma↗

Diagnosis of posterior mediastinal goiter by computed tomography.

Although radionuclide examinations are usually diagnostic for evaluating mediastinal goiters, false negative examinations do occur, and the diagnosis may not be suspected based on clinical or radiographic features. In such a setting, computed tomography (CT) may demonstrate both anatomic and physiologic evidence of thyroid mass, providing useful diagnostic information. We report a case in which CT derived data aided in an early diagnosis of mediastinal gioter.

Diagnosis, Differential↗

Robotic resection of an ectopic goiter in the mediastinum.

We report the first robotic resection of an ectopic mediastinal thyroid adenoma in a 72-year-old woman. This intervention was part of staged management for excessive bilateral cervical goiter with intrathoracic dispersion. The robotic resection was found to be feasible and safe. The robotic operating system offers better visual control and operative accuracy than does conventional thoracoscopy.

Adenoma↗

Management of an ascending aortic aneurysm with coronary artery disease and tracheal compression from a substernal goiter.

We report the case of a 61-year-old female, who presented with a history of chronic fatigue, dyspnea on exertion, a widened mediastinum with tracheal deviation on chest X-ray, and a neck mass. After a diagnostic workup, the patient was found to have a paratracheal mass extending into the chest in addition to a 6.5 cm ascending aortic aneurysm with aortic insufficiency, and a 70% stenosis of the right coronary artery. She underwent successful resection of a substernal goiter via a neck incision facilitated by a previously performed sternotomy for a concomitant ascending aortic root replacement and a bypass utilizing the RIMA to the distal RCA.

Aorta↗

The effect of suppressive therapy of nontoxic diffuse goiter on serum levels of thyroxine, 3,5,3'-triiodothyronine and 3,3',5'-triiodothyronine.

We studied the effect of suppressive therapy with graded doses of thyroxine (T4) on serum levels of T4, 3,5,3'-triiodothyronine (T3) and 3,3',5'-triiodothyronine [rT3] in patients with diffuse, nontoxic goiter. For comparison and in order to elucidate the degree of suppression of the pituitary thyroid axis by T3 the effect of suppressive therapy with T3 was studied in the same type of patients. We found that T4 in serum rose significantly to a constant level during T4 treatment (0.10, 0.15 and 0.20 mg/day). Dose-related rises in T4 were only seen after 3 months of treatment. T3 and rT3 only changed minimally. The T4/T3 ratio rose to a constant level during the initial 3 months of treatment. T3/rT3 ratio remained unchanged. No dose-related differences in T4/T3 and T3/rT3 ratio were observed. Treatment with T3 in doses of 0.06 mg per day caused a significant but slow fall in T4 and rT3 to hypothroid levels while T3 only rose slightly. The T4/T3 ratio dropped significantly during T3 therapy.

Adult↗

Cystic goiter with squamous-cell metaplasia--case report and comment on origin of squamous-cell cyst.

A 53-year-old woman with a left unilocular cystic goiter of the size of a small orange was reported. Approximately four-tenths of the innter surface was lined with several layered squamous epithelium with few follicles remaining. A gradual metaplastic transition from the follicular epithelium to the flattened cuboidal and to the squamous epithelium was observed. The ultimobranchial body has been understood to be a possible origin of an entirely squamous cell cyst of the thyroid, three of which have been reported. The difference between the ultimo-branchial and metaplastic origins will be discussed, and a new designation-primary (ultimo-branchial) and secondary (metaplastic) squamous-cell cyst will be proposed.

Animals↗

Primordial birdheaded nanism associated with progressive ataxia, early onset insulin resistant diabetes, goiter and primary gonadal insufficiency. A new syndrome.

A new syndrome in two siblings with primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus is presented. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon and insulin all working through cell membrane receptors were elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients.

Adolescent↗

Increasing frequency of thyroid goiters in Coho salmon (Oncorhynchus kisutch) in the Great Lakes.

Coho salmon collected during the 1976 spawning runs from Lakes Michigan, Ontario, and Erie had overt goiter frequencies of 6.3, 47.6, and 79.5%, respectively. These represent significant increases over the frequencies observed in previous years. Epizootiological data suggest that environmental goitrogens (possibly pollutants) may be involved in the etiology of the thyroid disorder.

Animals↗

Effects of propylthiouracil treatment on antioxidant activities in blood of toxic multinodular goiter patients.

Erythrocyte, serum and plasma antioxidant activities and the effects of propylthiouracil (PTU) treatment on these activities were studied in patients with toxic multinodular goiter. The activities of the erythrocyte antioxidant enzymes (glucose-6-phosphate dehydrogenase, catalase, Cu/Zn-superoxide dismutase, selenium (Se)-dependent glutathione peroxidase and glutathione reductase) and the levels of erythrocyte Se, serum ceruloplasmin and plasma malondialdehyde were significantly higher while serum vitamin E, plasma vitamin C and plasma Se were lower in hyperthyroid patients. PTU treatment, not for 1 but for 3 months caused a partial reversal of antioxidant activities to euthyroid levels. It is suggested that alterations in blood antioxidant activities following PTU treatment might be due to the antioxidant and/or antithyroid effect of this drug.

Adult↗

Graves' disease presented as painful goiter.

Pain in the thyroid gland is rarely present in Graves' disease. We describe a 32-year-old female hyperthyroid Graves' disease patient with an initial manifestation of painful goiter. On physical examination, the thyroid gland was diffusely enlarged and tender. The laboratory examinations showed high serum thyroid hormone and low thyrotropin values. Serum inflammatory markers, including C-reactive protein and erythrocyte sedimentation rate, were elevated. Thyroid ultrasound revealed multiple focal hypoechoic areas. All these findings gave an initial impression of an acute inflammatory and destructive process in the thyroid gland. However, subsequent thyroid scintigraphy demonstrated a diffuse radioactive iodide uptake pattern with positive serum thyrotropin receptor antibodies. Fine-needle aspiration cytology showed only the presence of lymphocytes. She was diagnosed as having Graves' disease and was treated with propylthiouracil, and prednisolone was given for neck pain. Within a few days, the thyroid tenderness dramatically improved, and the erythrocyte sedimentation rate progressively normalized. However, follow-up thyroid function tests still showed high serum thyroid hormone levels. The possible etiologies of a painful thyroid gland in Graves' disease will be discussed.

Adult↗