Coeliac disease is a malabsorption syndrome induced by the gluten-containing cereals leading to the damage of small intestinal mucosa. A case of a young woman is presented whose coeliac disease became overt in the puerperium. Despite strict adherence to gluten-free diet, her muscle weakness affecting several muscle regions persisted.
View Article and Find Full Text PDFIntroduction: Primary aldosteronism is the most common form of mineralocorticoid hypertension. The disease has been described by Jerome W. Conn in 1955; since that time there has been a great progress in the knowledge concerning the prevalence, diagnostics and treatment of the disease.
View Article and Find Full Text PDFWe report the case of a macroprolactinoma in a 32-year-old woman, who presented with secondary amenorrhea, galactorrhea, increased plasma prolactin level (3259 ng/ml), headache and bi-temporal visual field defect. Magnetic resonance imaging showed a large pituitary tumor. The patient responded well to bromocriptine (7.
View Article and Find Full Text PDFTo study the usefulness of 6beta-hydroxycortisol (6betaOHF) measurements for assessing hepatic drug metabolizing enzyme activity, plasma 6betaOHF and cortisol were measured in 22 patients with alcoholic liver disease after at least 2 weeks of alcohol abstinence, in 5 patients with severe Cushing's syndrome and in 12 healthy non-drinker subjects. Blood samples were drawn under resting conditions during midnight, in the morning at 0800 h, after a 1-mg overnight dexamethasone test and after ACTH administration. Plasma cortisol and 6betaOHF were determined with radioimmunoassay.
View Article and Find Full Text PDFObjective: The aims of the present study were (a) to examine the occurrence of 21-hydroxylase gene (CYP21) mutations in patients with unilateral and bilateral adrenal incidentalomas and (b) to correlate the results of mutation screening with hormonal parameters of 21-hydroxylase deficiency.
Design: The frequency of the eight commonly occurring CYP21 mutations in blood DNA samples of 19 patients with bilateral, as well as in blood and tumoral tissue DNA samples of 31 patients with unilateral adrenal incidentalomas, was determined. In all patients, hormonal evaluation for 21-hydroxylase deficiency was performed using measurements of basal and ACTH-stimulated plasma 17-hydroxyprogesterone (17-OHP) concentrations.
The authors review the historical and epidemiological aspects, as well as the distinguishing clinical features and complications of acromegaly to emphasize the importance of early diagnosis and treatment of patients with this disorder. Acromegaly is a rare disorder with a prevalence of 55-69 cases per million population and an incidence of 3-4 newly detected cases per million per year. Recent estimates indicate, that its slow progression and insidious course leads to a considerable time lag of 7-12 years between the first symptoms and the diagnosis of the disease, although younger patients with more severe disease may be detected earlier.
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