1/71. Congenital hyperthyroidism: autopsy report.We report the autopsy of a stillborn fetus with congenital hyperthyroidism born to a mother with untreated Graves' disease, whose cause of death was congestive heart failure. The major findings concerned the skull, thyroid, heart, and placenta. The cranial sutures were closed, with overlapping skull bones. The thyroid was increased in volume and had intense blood congestion. Histological examination showed hyperactive follicles. The heart was enlarged and softened, with dilated cavities and hemorrhagic suffusions in the epicardium. The placenta had infarctions that involved at least 20% of its surface, and the vessels of the umbilical cord were fully exposed due to a decrease in Wharton's jelly. hyperthyroidism was confirmed by the maternal clinical data, the fetal findings of exophthalmia, craniosynostosis, and goiter with signs of follicular hyperactivity. Craniosynostosis is caused by the anabolic action of thyroid hormones in bone formation during the initial stages of development. The delayed initiation of treatment in the present case contributed to the severity of fetal hyperthyroidism and consequent fetal death.- - - - - - - - - - ranking = 1keywords = bone (Clic here for more details about this article) |
2/71. struma ovarii with hyperthyroidism.A case of hyperthyroid disease after total thyroidectomy is reported. An initial scintigraph with Tc-99m sodium pertechnetate confirmed the absence of uptake in the neck. The view of the pelvis revealed a rounded area of increased uptake on the left, near the sacroiliac joint (results of bone scintigraphy were negative). A wholebody scan with iodine-131 confirmed a struma ovarii that was bilateral, which occurs in 5% to 10% of patients with this condition.- - - - - - - - - - ranking = 0.5keywords = bone (Clic here for more details about this article) |
3/71. 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 = 0.5keywords = bone (Clic here for more details about this article) |
4/71. Treatment of a thyrotropinoma with octreotide-LAR in a patient with multiple endocrine neoplasia-1.OBJECTIVE: To note that a thyrotropin (TSH)-secreting macroadenoma may be part of the multiple endocrine neoplasia-1 (MEN-1) syndrome and to report the use of octreotide-LAR (OCT-LAR) to treat a TSH-secreting macroadenoma in a patient with MEN-1 with previous surgery for hyperparathyroidism and gastrinoma. methods: We present a patient with a TSH-secreting pituitary macroadenoma and report the results of her endocrine, genetic, radiologic, and nuclear medicine testing and her response to treatment with octreotide (OCT), octreotide-LAR, and estrogen. RESULTS: This patient's TSH-induced hyperthyroidism responded to octreotide for 5 months and octreotide-LAR for more than 11 months. Her hypercalcemia normalized while she was taking estrogen. Her genetic testing is reported to show a genetic defect that is typical of patients with MEN-1. CONCLUSION: This report describes: (1) The use of octreotide-LAR to treat both a TSH-secreting pituitary tumor and a gastrinoma over 12 months; (2) the importance of including these tumors into the MEN-1 syndrome with its attendant implications; and (3) a genetic defect, typical of patients with MEN-1, associated with this tumor.- - - - - - - - - - ranking = 201.32535450072keywords = endocrine (Clic here for more details about this article) |
5/71. Intractable diarrhea in hyperthyroidism: management with beta-adrenergic blockade.OBJECTIVE: To describe a patient with intractable diarrhea and thyrotoxic Graves' disease, for whom b-adrenergic blockade ultimately proved to be effective therapy for the diarrhea, and to review the types of hyperthyroidism-associated diarrhea. methods: We present the clinical course of a young man with a prolonged siege of diarrhea that proved elusive to diagnostic inquiries and resistant to all means of management until its endocrine basis was discovered. Control of such cases with b-adrenergic blockade is discussed, as are the pathophysiologic bases of intestinal hypermotility in hyperthyroidism. RESULTS: A 26-year-old man with down syndrome, and no prior gastrointestinal disorder, had insidious, chronic, constant diarrhea, which was associated with loss of 14 kg during a 5-month period. Numerous laboratory and imaging studies and endoscopic examinations failed to disclose the cause of the diarrhea. Furthermore, a broad range of antibiotics and other empiric remedies failed to control the problem. No other symptoms of hyperthyroidism were reported, but when the endocrinopathy was suspected and identified, the diarrhea was promptly controlled by treatment with propranolol. In patients with hyperthyroidism, two types of diarrheal disorders have been described-secretory diarrhea and steatorrhea; bile acid malabsorption may have a role in either of these settings. CONCLUSION: In addition to its capacity for blocking the peripheral effects of thyroid hormone on the heart and central nervous system, b-adrenergic blockade is effective in slowing intestinal transit time and ameliorating the uncommon diarrhea associated with hyperthyroidism. Thyroid hormone in excess, among its other possible effects on the gastrointestinal tract, may exert a stimulatory effect by means of intermediary sympathetic activation, as it does with the heart. Thus, sympathetic blockade can mimic the salutary effects on the gastrointestinal tract conventionally brought about by direct antithyroid therapy, and well before the hyperthyroid state per se is eliminated. The current patient illustrates the value of considering hyperthyroidism in the differential diagnosis of diarrhea of unknown cause.- - - - - - - - - - ranking = 33.55422575012keywords = endocrine (Clic here for more details about this article) |
6/71. Interplay of pregnancy, lactation, and hyperthyroidism leading to severe osteoporosis in a young woman.OBJECTIVE: To describe the case of a young woman who had severe osteoporosis due to the compounding effects of pregnancy, lactation, and hyperthyroidism and who had a presumed metastatic lesion in the lumbar spine. methods: We present the clinical, pathologic, radiologic, and laboratory findings and describe the clinical course of our patient. RESULTS: A 31-year-old Arabic woman was referred to the M. D. Anderson Cancer Center because of a lytic lesion in her lumbar spine, presumed to be metastatic deposits. She had a history of two consecutive pregnancies and intermittently treated hyperthyroidism. Our initial evaluation revealed that the patient had clinical and biochemical thyrotoxicosis, and we treated her with thionamides, corticosteroids, and radioiodine ablation. Radiologic studies disclosed a complex renal cyst that had increased uptake on a bone scan, which was highly suggestive of a primary malignant lesion. Ultimately, however, it proved benign on pathologic analysis after a left nephrectomy. Bone mineral density measurements identified severe osteoporosis (T-scores: lumbar spine, -3.3; right hip, -2.2; and left hip, -2.0), which had led to vertebral collapse and was misinterpreted as malignant metastatic disease. The bone mineral densities improved ( 5 to 11% at the various sites) within 4 months after definitive treatment and cure of the hyperthyroidism. CONCLUSION: The effect of pregnancies and prolonged lactation, in the milieu of other risk factors for bone depletion such as hyperthyroidism, may cause severe osteoporosis in a young patient. The resulting osteoporosis may manifest as a lesion suggestive of malignant metastatic involvement.- - - - - - - - - - ranking = 1.5keywords = bone (Clic here for more details about this article) |
7/71. A TSH secreting pituitary tumour causing hyperthyroidism: presentation of a case and review of the literature.A 45 year old male with a 12 year history of mild hyperthyroidism and a pituitary tumour is presented. He had both clinical and laboratory evidence of hyperthyroidism and his serum TSH was persistently and markedly elevated. A TRH test resulted in no further rise in serum TSH. No evidence of pituitary or peripheral endocrine deficiencies existed and prolactin levels were normal. craniotomy was performed and a pituitary adenoma was removed. On light microscopy, it was mostly composed of chromophobes. However, occasional granulated cells were observed, and on electron microscopy, most of the cells contained fine granules, which suggested possible thyrotroph origin of the tumour. One week post-operatively the patient's serum TSH returned to normal. Again, TRH produced no response in TSH. The patient became hypothyroid by clinical and laboratory findings and is currently on thyroid replacement therapy. The previously reported TSH secreting tumours associated with hyperthyroidism are reviewed.- - - - - - - - - - ranking = 33.55422575012keywords = endocrine (Clic here for more details about this article) |
8/71. Early fractures and occult hyperthyroidism: McCune-Albright syndrome?McCune-Albright syndrome (MAS) is a sporadic disease characterized by fibrous bone dysplasia, cafe-au-lait spots and hyperfunctional endocrinopathies. We report a 2.5-year-old child with MAS with an early and nonclassic onset. He was admitted to our attention for frequent fractures without clinical signs of endocrinopathies, found to have asymptomatic, nonautoimmune hyperthyroidism. The diagnosis of MAS was based on RX and MR imaging associated with hyperthyroidism. It is not clear if there was a correlation between the severity of bone disease and the presence of thyroid disorder. At the moment no standard treatment exists for bone fibrous dysplasia and hyperthyroidism in children before the age of 6 years.- - - - - - - - - - ranking = 1.5keywords = bone (Clic here for more details about this article) |
9/71. Infantile McCune-Albright syndrome.McCune-Albright syndrome is a rare disorder caused by an activating mutation of the alpha subunit of the Gs protein and is characterized by multiple hormonal abnormalities, fibrous dysplasia of bone, and cutaneous pigmentation. We report a 10-week-old infant with McCune-Albright syndrome. He presented with failure to thrive, cardiorespiratory distress, and pigmented macules on his face, trunk, and limbs. Following the clinical diagnosis of McCune-Albright syndrome, he was subsequently shown to have hypercortisolism and hyperthyroidism.- - - - - - - - - - ranking = 0.5keywords = bone (Clic here for more details about this article) |
10/71. A case of TSH receptor antibody-positive hyperthyroidism with functioning metastases of thyroid carcinoma.The presence of TSH receptor antibody (TRAb) is rarely responsible for hyperthyroidism due to metastatic lesions of thyroid carcinoma. A 70-year-old woman was incidentally found to be thyrotoxic around the time that external irradiation was performed for multiple bone metastases 9 years after subtotal thyroidectomy for follicular carcinoma. hyperthyroidism persisted after oral administration of thiamazole. Relevant laboratory data were as follows: FT4 9.6 ng/L, FT3 7.3 ng/L, TSH <0.19 mU/L, TBII 70, TSAb 735, and Tg 32,000 microg/L. 131I-total body scan showed 131I accumulation in the occipital bone, cervical vertebra, thoracic vertebra, ilium, and residual thyroid gland. Since the ilium uptake (11.6) was markedly higher compared to the residual thyroid gland uptake (0.14), four subsequent 131I therapies were performed. The patient became hypothyroid, and TBII became negative. TSAb became negative after the first 131I-therapy but has increased again to 204 at present. Tg was 1,962 microg/L despite high TSH levels. 131I accumulation in the residual thyroid, cervical vertebra, and thoracic vertebra disappeared. Also 131I accumulation in the ilium has gradually decreased, but the image in the occipital bone has become markedly distinctive. This is a rare case characterized by TRAb-positive hyperthyroidism, by T3-predominant thyrotoxicosis, and by stronger accumulation of 131I in the metastatic tumor than in the residual thyroid gland. Thus, the response to TRAb and 131I-therapy is different among metastatic thyroid tissues.- - - - - - - - - - ranking = 1.5keywords = bone (Clic here for more details about this article) |
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