Five cases with central diabetes insipidus and hypogonadism as first presentation of neurosarcoidosis.
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OBJECTIVES: We retrospectively reviewed 5 patients with neurosarcoidosis, who all presented with central diabetes insipidus and hypogonadism. DESIGN: This was a single-centre, retrospective analysis of 5 cases with a minimum follow-up of 2 years. METHODS: Case analysis included clinical, biochemical, and endocrinological evaluation and frequent CT/MRI scans of involved organs as primary evaluation and in response to immunosuppressive therapy. RESULT: Neurosarcoidosis was diagnosed in all patients. Two patients had no proven extracerebral manifestation and had a stable disease over 3 and 5 years. One patient showed deterioration with corticosteroids alone but partial remission after additional cyclophosphamide. Pituitary dysfunction remained unchanged in all patients, despite total clinical and radiological remission in two patients. However, one of these patients died of acute granulomatous meningoencephalitis after two years of follow-up. CONCLUSION: Although the presenting symptoms of neurosarcoidosis may vary, the occurrence of central diabetes insipidus associated with typical radiological features is suggestive of neurosarcoidosis. However, there is an increasing number of case reports on lymphocytic hypophysitis. Without the bioptic diagnosis, the differentiation between potentially lethal isolated neurosarcoidosis and lymphocytic hypophysitis is difficult. These cases demonstrate the difficulties in diagnosing neurosarcoidosis and reflect experiences with follow-up parameters. (+info)
Central diabetes insipidus in children and young adults.
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BACKGROUND: Central diabetes insipidus is rare in children and young adults, and up to 50 percent of cases are idiopathic. The clinical presentation and the long-term course of this disorder are largely undefined. METHODS: We studied all 79 patients with central diabetes insipidus who were seen at four pediatric endocrinology units between 1970 and 1996. There were 37 male and 42 female patients whose median age at diagnosis was 7.0 years (range, 0.1 to 24.8). All patients underwent magnetic resonance imaging (MRI) and periodic studies of anterior pituitary function. The median duration of follow-up was 7.6 years (range, 1.6 to 26.2). RESULTS: The causes of the central diabetes insipidus were Langerhans-cell histiocytosis in 12 patients, an intracranial tumor in 18 patients, a skull fracture in 2 patients, and autoimmune polyendocrinopathy in 1 patient; 5 patients had familial disease. The cause was considered to be idiopathic in 41 patients (52 percent). In 74 patients (94 percent) the posterior pituitary was not hyperintense on the first MRI scan obtained, and 29 patients (37 percent) had thickening of the pituitary stalk. Eighteen patients had changes in the thickness of the pituitary stalk over time, ranging from normalization (six patients) or a decrease in thickness (one patient) to further thickening (seven patients) or thickening of a previously normal stalk (four patients). Anterior pituitary hormone deficiencies, primarily growth hormone deficiency, were documented in 48 patients (61 percent) a median of 0.6 year (range, 0.1 to 18.0) after the onset of central diabetes insipidus. CONCLUSIONS: Most children and young adults with acquired central diabetes insipidus have abnormal findings on MRI scans of the head, which may change over time, and at least half have anterior pituitary hormone deficiencies during follow-up. (+info)
Effects of various mutations in the neurophysin/glycopeptide portion of the vasopressin gene on vasopressin expression in vitro.
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The vasopressin gene encodes three polypeptides besides the signal peptide: vasopressin, neurophysin II (neurophysin), and the carboxy-terminal glycopeptide (glycopeptide). Although the function of vasopressin is well characterized, those of the latter two are not completely understood. In the present study, we investigated the effects of various mutations within the neurophysin/glycopeptide portion of the vasopressin gene on vasopressin secretion in vitro, to clarify the role of each peptide in vasopressin biosynthesis. Expression vectors containing the vasopressin gene, either wild-type or various mutants, were transiently transfected into AtT20 cells, which are known to have the enzymes necessary for the proper processing of the vasopressin precursor protein. The amount of vasopressin secreted into the culture medium was estimated by specific radioimmunoassay. Variable degrees of decreased vasopressin secretion were observed with mutant vasopressin genes harboring deletions or amino acid substitutions in neurophysin. The naturally-occurring frame-shift mutation in the hereditary diabetes insipidus (Brattleboro) rat completely eliminated vasopressin expression. In contrast, a missense mutation found in patients with familial neurogenic diabetes insipidus only partially decreased vasopressin secretion. Finally, the mutant vasopressin gene lacking the N-linked glycosylation site in glycopeptide had no effect on vasopressin expression. Our data suggest that 1) intact neurophysin is not indispensable for vasopressin expression, although an altered structure of neurophysin significantly affects the secretion of the hormone; 2) the pathogenesis of diabetes insipidus with the two naturally-occurring mutations found in the rat (Brattleboro rat) and human (familial central diabetes insipidus) seem to be different; and 3) glycosylation of the carboxy-terminal glycopeptide is not essential for the expression of vasopressin. (+info)
A clinical feature of hyperlipidemia in patients with central diabetes insipidus.
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In this study, we analyzed plasma lipid and lipoprotein levels before and after treatment with 1-desamino-8-D-arginine vasopressin (DDAVP) in subjects with partial and complete central diabetes insipidus (DI) in order to determine how a shortage and supplement of this hormone affect plasma lipid metabolism. The subjects consisted of 6 patients with partial and 6 with complete central DI. After treatment with DDAVP through nasal cavity, plasma total cholesterol (TC) level did not decrease either in complete or partial form. Plasma triglyceride (TG) levels decreased from 306+/-175 mg/dl to 198+/-91 (35% decrease, p=0.027) in complete form, while TG did not change significantly in partial form. A detailed investigation of plasma lipoprotein metabolism during treatment with DDAVP was carried out in 3 of the 6 subjects with complete form of DI. Lipoprotein lipase activity and mass in post-heparin plasma from those three subjects tended to increase after treatment with DDAVP, along with the complete disappearance of an unusual lipoprotein between low density lipoprotein (LDL) and very low density lipoprotein (VLDL) as analyzed by polyacrylamide gel electrophoresis. These results suggest that the DDAVP treatment has a favorable effect on lipid and lipoprotein metabolism, especially triglyceride-rich lipoproteins, either directly or through modifying factors contributing to lipid metabolism. (+info)
Pituitary tumors: pathophysiology, clinical manifestations and management.
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Pituitary tumors are frequently encountered intracranial neoplasms. They present with a variety of clinical manifestations that include symptoms and signs of excessive hormone secretion by the tumor, signs of hormone deficits by the normal pituitary gland and others related to expansion of the tumor mass and the resulting compression of surrounding structures such as the optic chiasm and cranial nerves. Advances in molecular biology, immunocytochemical staining and imaging, and the introduction of new treatment options have improved our understanding of the natural history of these adenomas and their management. Available treatments include surgical, medical and radiation therapy. Although the primary treatment for each tumor type may vary, it is important to consider all available options and select the most applicable for that patient. The interaction of all members of management team, including the primary care provider, the endocrinologist and the neurosurgeon in selecting the treatment course can only improve therapeutic outcome. Regardless of the initial choice of treatment,follow-up of all patients should be maintained indefinitely. The managing physician should be familiar with the natural history and long-term complications of pituitary adenomas, and with the side effects of treatments given over the years. (+info)
MR imaging of central diabetes insipidus: a pictorial essay.
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Central diabetes insipidus (DI) can be the outcome of a number of diseases that affect the hypothalamic-neurohypophyseal axis. The causes of the condition can be classified as traumatic, inflammatory, or neoplastic. Traumatic causes include postoperative sella or transection of the pituitary stalk, while infectious or inflammatory causes include meningitis, lymphocytic hypophysitis, and granulomatous inflammations such as sarcoidosis and Wegener's granulomatosis. Various neoplastic conditions such as germinoma, Langerhans cell histiocytosis, metastasis, leukemic infiltration, lymphoma, teratoma, pituitary adenoma, craniopharyngioma, Rathke cleft cyst, hypothalamic glioma, and meningioma are also causes of central DI. In affected patients, careful analysis of these MR imaging features and correlation with the clinical manifestations can allow a more specific diagnosis, which is essential for treatment. (+info)
Transient central diabetes insipidus in pregnancy with a peculiar change in signal intensity on T1-weighted magnetic resonance images.
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A 38-year-old woman was admitted with severe thirst and polyuria at 31 weeks' gestation. The plasma concentration of vasopressin (AVP) was very low (0.73 pg/ml) under conditions of high plasma osmolality (316 mOsm/ kg). T1-weighted magnetic resonance (MR) images revealed enlargement of the pituitary posterior lobe with absence of the hyperintense signal. After delivery, restoration of the hyperintense signal was demonstrated. This depletion-repletion process, which reflects the decrease and increase in amount of neurosecretory granules, is recognized in the case of transient central diabetes insipidus during pregnancy. We consider that an increase in cystine-aminopeptidase (CAP) activity is implicated in the pathogenesis. (+info)
Oral DDAVP is a good alternative therapy for patients with central diabetes insipidus: experience of five-year treatment.
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We studied the efficacy and safety of oral 1-deamino-8-D-arginine-vasopressin (DDAVP) tablets in 9 patients, aged 17-36 years, with central diabetes insipidus (DI). The tablet contained 100 microg of desmopressin acetate. Maximum plasma concentration was obtained at 90 min after a single oral administration of 100 microg DDAVP with a mean plasma level of 14.7 +/- 5.4 (range: 5.3-50.9) pg/ml. The onset of action was observed 2 h after oral administration, while the maximum effect was obtained at 4 h. Mean urine volume in patients decreased significantly from 402 +/- 52 to 26 +/- 3 ml/hr and urine osmolality increased from 91 +/- 8 to 732 +/- 21 mosm/kg at 4 h after the intake of oral DDAVP. Plasma osmolality level and serum sodium concentration remained unchanged throughout the study. Long-term treatment for 5 years with oral DDAVP resulted in control of diuresis in 8 of the 9 patients. The average oral DDAVP dose required to obtain this control was 19 +/- 2 (range: 15-30) times more than that of prior intranasal treatment. No adverse effects were observed during this follow-up period. These results indicate that oral DDAVP is a safe therapeutic agent that may be a good alternative treatment of central DI, particularly in patients who have chronic rhinitis and visual disturbances. (+info)