Diabetes insipidus from neurosarcoidosis: long-term follow-up for more than eight years.
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Four patients with sarcoidosis presented as hypothalamic-hypophyseal syndrome including diabetes insipidus (DI) were followed up for more than 8 years from the onset of clinical manifestation. The mean age was 26 years, male : female ratio was 3 : 1 and the mean disease duration of 10 years. All patients had hypogonadism, hyperprolactinemia. Pituitary enlargement with thickening of the pituitary stalk were detected by magnetic resonance imaging (MRI) with gadolinium enhancement and attenuation in the intensity of the posterior lobe of the pituitary was detected without enhancement. Corticosteroid therapy resulted in the initial improvement of symptoms and gradual decrease in the tumor size but failed to cure polyuria due to DI. The use of desmopressin was necessary for a long period. None of these patients died from DI or central neurosarcoidosis. (+info)
Hypothalamic hamartoma associated with a craniopharyngeal canal.
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Hypothalamic hamartoma is a rare congenital lesion. We present the case of a 7-year-old girl who suffered from precocious puberty, the cause of which was diagnosed by using MR imaging and CT as pedunculated hypothalamic hamartoma associated with a large craniopharyngeal canal and sellar spine mimicking pituitary duplication. (+info)
Lower urinary tract function in patients with pituitary adenoma compressing hypothalamus.
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BACKGROUND: The micturition reflex is under the tonic influence of suprapontine structures including the anteromedial frontal cortex, basal ganglia, and hypothalamus. However, there have been few reports about the role of the hypothalamus on the lower urinary tract (LUT) function in humans. OBJECTIVE: To investigate LUT function in patients with pituitary adenomas. METHODS: Urodynamic studies were carried out in three patients with LUT symptoms who had pituitary adenomas extending upwards to the hypothalamus. RESULTS: All three male patients (age 28 to 62 years) developed LUT symptoms (urinary urgency and frequency (3); urinary incontinence (3); voiding difficulty and retention (2)) along with weight loss, psychiatric symptoms, unsteady gait, and/or visual disturbances. One had the syndrome of inappropriate secretion of antidiuretic hormone, but none had diabetes insipidus. Two had resection of the tumour and subsequent radiation therapy, but LUT dysfunction persisted. The third patient had partial resection of the tumour to ameliorate hydrocephalus. Urodynamic studies showed detrusor overactivity during the storage phase in all patients; during the voiding phase there was underactive detrusor in two and non-relaxing sphincter in one. CONCLUSIONS: Hypothalamic lesions can cause severe LUT dysfunction in both the storage and voiding phases of micturition. This may reflect the crucial role of the hypothalamus in regulating micturition in humans. (+info)
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
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Mutations in the GLI3 zinc-finger transcription factor gene cause Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS), which are variable but distinct clinical entities. We hypothesized that GLI3 mutations that predict a truncated functional repressor protein cause PHS and that functional haploinsufficiency of GLI3 causes GCPS. To test these hypotheses, we screened patients with PHS and GCPS for GLI3 mutations. The patient group consisted of 135 individuals: 89 patients with GCPS and 46 patients with PHS. We detected 47 pathological mutations (among 60 probands); when these were combined with previously published mutations, two genotype-phenotype correlations were evident. First, GCPS was caused by many types of alterations, including translocations, large deletions, exonic deletions and duplications, small in-frame deletions, and missense, frameshift/nonsense, and splicing mutations. In contrast, PHS was caused only by frameshift/nonsense and splicing mutations. Second, among the frameshift/nonsense mutations, there was a clear genotype-phenotype correlation. Mutations in the first third of the gene (from open reading frame [ORF] nucleotides [nt] 1-1997) caused GCPS, and mutations in the second third of the gene (from ORF nt 1998-3481) caused primarily PHS. Surprisingly, there were 12 mutations in patients with GCPS in the 3' third of the gene (after ORF nt 3481), and no patients with PHS had mutations in this region. These results demonstrate a robust correlation of genotype and phenotype for GLI3 mutations and strongly support the hypothesis that these two allelic disorders have distinct modes of pathogenesis. (+info)
Giant intrasellar arachnoid cyst manifesting as adrenal insufficiency due to hypothalamic dysfunction--case report--.
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A 67-year-old man first noticed loss of pubic and axillary hair in 1992 and then a visual field defect in 2001. He experienced loss of consciousness attributed to hyponatremia in April 2002. Magnetic resonance imaging showed a giant intrasellar cystic mass, 40 mm in diameter, that had compressed the optic chiasm. The patient complained of chronic headache, and neurological examination revealed bitemporal hemianopsia. Preoperative endocrinological examination indicated adrenal insufficiency, and hypothyroidism due to hypothalamic dysfunction. The patient underwent endonasal transsphenoidal surgery. The cyst membrane was opened and serous fluid was drained. Histological examination identified the excised cyst membrane as arachnoid membrane. The patient's headaches resolved postoperatively, but the bitemporal hemianopsia and endocrinological function were unchanged. This arachnoid cyst associated with hypothalamic dysfunction might have been caused by an inflammatory episode in the suprasellar region. (+info)
Evaluation of adrenal function in patients with growth hormone deficiency and hypothalamic-pituitary disorders: comparison between insulin-induced hypoglycemia, low-dose ACTH, standard ACTH and CRH stimulation tests.
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OBJECTIVES: Patients with organic growth hormone deficiency (GHD) or with structural hypothalamic-pituitary abnormalities may have additional anterior pituitary hormone deficits, and are at risk of developing complete or partial corticotropin (ACTH) deficiency. Evaluation of the integrity of the hypothalamic-pituitary-adrenal axis (HPA) is essential in these patients because, although clinically asymptomatic, their HPA cannot appropriately react to stressful stimuli with potentially life-threatening consequences. DESIGN AND METHODS: In this study we evaluated the integrity of the HPA in 24 patients (age 4.2-31 years at the time of the study) with an established diagnosis of GHD and compared the reliability of the insulin tolerance test (ITT), short synacthen test (SST), low-dose SST (LDSST), and corticotropin releasing hormone (CRH) test in the diagnosis of adrenal insufficiency. RESULTS: At a cortisol cut-off for a normal response of 550 nmol/l (20 microg/dl), the response to ITT was subnormal in 11 subjects, 6 with congenital and 5 with acquired GHD. Four patients had overt adrenal insufficiency, with morning cortisol concentrations ranging between 66.2-135.2 nmol/l (2.4-4.9 microg/dl) and typical clinical symptoms and laboratory findings. In all these patients, a subnormal cortisol response to ITT was confirmed by LDSST and by CRH tests. SST failed to identify one of the patients as adrenal insufficient. In the seven asymptomatic patients with a subnormal cortisol response to ITT, the diagnosis of adrenal insufficiency was confirmed in one by LDSST, in none by SST, and in five by CRH tests. The five patients with a normal cortisol response to ITT exhibited a normal response also after LDSST and SST. Only two of them had a normal response after a CRH test. In the seven patients with asymptomatic adrenal insufficiency mean morning cortisol concentration was significantly higher than in the patients with overt adrenal insufficiency. ITT was contraindicated in eight patients, and none of them had clinical symptoms of overt adrenal insufficiency. One of these patients had a subnormal cortisol response to LDSST, SST, and CRH, and three exhibited a subnormal response to CRH but normal responses to LDSST and to SST. CONCLUSION: We conclude that none of these tests can be considered completely reliable for establishing or excluding the presence of secondary or tertiary adrenal insufficiency. Consequently, clinical judgment remains one of the most important issues for deciding which patients need assessment or re-assessment of adrenal function. (+info)
Hypothalamic hamartoma.
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The incidence of hypothalamic hamartomas (HHs) has increased since the introduction of magnetic resonance (MR) imaging. The etiology of this anomaly and the pathogenesis of its peculiar symptoms remain unclear, but recent electrophysiological, neuroimaging, and clinical studies have yielded important data. Categorizing HHs by the degree of hypothalamic involvement has contributed to the accurate prediction of their prognosis and to improved treatment strategies. Rather than undergoing corticectomy, HH patients with medically intractable seizures are now treated with surgery that targets the HH per se, e.g. HH removal, disconnection from the hypothalamus, stereotactic irradiation, and radiofrequency lesioning. Although surgical intervention carries risks, total eradication or disconnection of the lesion leads to cessation or reduction of seizures and improves the cognitive and behavioral status of these patients. Precocious puberty in HH patients is safely controlled by long-acting gonadotropin-releasing hormone agonists. The accumulation of knowledge regarding the pathogenesis of symptoms and the development of safe, effective treatment modalities may lead to earlier intervention in young HH patients and prevent the decline in their cognitive abilities and quality of life. This review of hypothalamic hamartomas presents current classifications, pathophysiologies, and treatment modalities. (+info)
New questions regarding bioequivalence of levothyroxine preparations: a clinician's response.
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A recent decision by the Food and Drug Administration (FDA) to declare various brands of levothyroxine bioequivalent has provoked objections from several physicians' organizations. These organizations assert that the method of testing bioequivalence is flawed, and that indiscriminate switching among preparations could lead to serious instances of undertreatment and overtreatment of hypothyroid patients. In this review we first list common indications for thyroid hormone administration, distinguishing its use as replacement therapy in hypothyroidism from its use to suppress thyrotropin (TSH) secretion in cases of thyroid cancer, nodules, and goiter. The dangers associated with changing to a preparation with different bioavailability are summarized, noting the particular danger of giving a more active preparation to a patient receiving TSH-suppressive doses of levothyroxine. However, these dangers are part of a larger problem: there are data showing that large numbers of patients are already receiving an improper dosage of levothyroxine, as judged from measurements of serum TSH. The recent history of FDA actions concerning levothyroxine bioequivalence and the arguments of those in disagreement are summarized. The immediate response to these problems should be better education of both patients and physicians. It is also recommended that there be further discussion of the problems in determining bioequivalence, and that consideration be given to more accurate and clinically relevant methods. Such methods should include assessment of the changes in TSH induced by each preparation in athyrotic patients. (+info)