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At least 19 recordsLinked to original sources

PubMed2006

How to localize parathyroid tumors in primary hyperparathyroidism?

The management of primary hyperparathyroidism (PHPT) has dramatically changed in the last 5 yr. Many more patients now undergo focused, limited or minimally invasive parathyroidectomy instead of traditional bilateral neck exploration. This change has taken place because of the improved accuracy of pre-operative localizing studies in selecting patients who have single-gland parathyroid disease (single adenoma) and can therefore have a minimally invasive parathyroidectomy. Sestamibi scanning followed by ultrasound, magnetic resonance imaging (MRI) and computed tomography (CT) scans are most accurate for localizing parathyroid tumors in patients with PHPT. Selective venous catheterization for PTH levels is useful when other localizing studies are negative or discordant in patients with persistent or recurrent PHPT. The routine use of one or more localizing studies commonly identifies the parathyroid tumor in patients with single-gland disease; but if localizing studies are negative or discordant, patients should have intra-operative PTH levels monitored or have a bilateral neck exploration to ensure a high rate of biochemical cure.

Adenoma↗

PubMed2003

Establishment of reference values for endocrine tests. III: Primary aldosteronism.

BACKGROUND: In our laboratory well-defined reference values for the screening test and confirmation test used in the diagnosis of primary aldosteronism were lacking. In this study we established the reference-values of the plasma aldosterone concentration (PA), plasma renin activity (PRA) and PA/PRA ratio after a two-hour upright period, and of the urinary aldosterone excretion after oral sodium loading. METHODS: Fifty healthy volunteers, equally distributed according to sex and aged between 20 and 70 years, went through the screening and confirmation test of primary aldosteronism. PA, PRA and the PA/PRA ratios were measured after a two-hour upright period (screening test). Urinary aldosterone excretion was determined in two 24-hour urine samples after an oral suppletion of 6 g NaCl a day for five days (confirmation test). RESULTS: The following reference values were established: PA (after two-hour upright position) <0.03-1.05 nmol/l (mean: 0.47), PA/PRA ratio 0.05-0.47 (mean: 0.15) and urinary aldosterone excretion after sodium loading <3.0-47.0 nmol/24h (mean: 10.5). PRA showed a significant decrease with advancing age: median values in the 3rd to 7th decade are 3.9, 3.5, 2.5, 1.6 and 2.1 ng A1/ml/h respectively (p=0.04). PA was lower in subjects > or = 50 years old. Age did not affect the PA/PRA ratio or the urinary aldosterone excretion. There were no significant differences between the sexes in any of the above-mentioned parameters. CONCLUSION: In this study we established reference values for the screening and confirmation test used in the diagnosis of primary aldosteronism.

Adult↗

PubMed2005

[Molecular diagnostics in endocrine diseases].

Molecular diagnostic techniques provide an unsurpassed opportunity to understand the pathophysiological basis of endocrine disorders. Diseases have been associated with mutations in almost every gene known to have a role in either the production or secretion of a hormone or the mediators of hormone signalling. Even though most of these mutations are rare and account for only a small fraction of endocrine diseases, molecular diagnostics offers a valuable tool for the clinician in these cases. The most common endocrine disorders such as autoimmune thyroiditis, type 2 diabetes mellitus, osteoporosis, growth disorders, and obesity have all major genetic components, but these are mostly unknown. In this review the clinical implications of molecular diagnostics are illustrated for some endocrine diseases: congenital adrenal hyperplasia, congenital hypothyroidism, thyroid hormone resistance, familial hypocalciuric hypercalcaemia, growth hormone deficiency and resistance, and monogenic obesity. Improved diagnostic specificity has direct implications for treatment and follow up in these syndromes. Molecular diagnostics in endocrine tumours and diabetes are presented in two other articles in this series.

Adrenogenital Syndrome↗

PubMed1953