[Familial hypocalciuric hypercalcemia].

Introduction: Familial hypocalciuric hypercalcemia is often considered but rarely proved during evaluation for hypercalcemia. The disorder is characterized by lifelong persisting hypercalcemia and hypocalciuria.

Case Report: In this study, the authors analyzed a 25-yr-old Hungarian woman with mild hypercalcemia detected by routine laboratory testing.

Plasma 6beta-hydroxycortisol measurements for assessing altered hepatic drug metabolizing enzyme activity.

To 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.

Plasma and salivary 6beta-hydroxycortisol measurements for assessing adrenocortical activity in patients with adrenocortical adenomas.

The aim of this study was to examine and compare the potential usefulness of plasma and salivary 6beta-hydroxycortisol measurements for assessing adrenocortical activity in patients with adrenocortical adenomas. Plasma and salivary cortisol as well as 6beta-hydroxycortisol determinations were performed by radioimmunoassay after extraction with ethyl acetate followed by chromatographic separation using a modified paper chromatographic system. Samples were obtained from 36 control subjects and 37 patients with non-hyperfunctioning adrenocortical adenomas in the morning at 8 a.

Secretion of 6beta-hydroxycortisol by normal human adrenals and adrenocortical adenomas.

Although 6beta-hydroxycortisol (6betaOHF) is usually considered a cortisol metabolite produced by the liver, a few reports suggest that it may also originate from extrahepatic sources. To examine whether human adrenal cells are capable of 6beta-hydroxylating cortisol, we measured 6betaOHF secretion with a radioimmunoassay method in isolated human adrenal cell systems obtained from three normal adrenals, four nonhyperfunctioning adrenocortical adenomas, two adrenal adenomas causing Cushing's syndrome, and five aldosterone (Aldo)-producing adenomas. Cells were examined both under basal conditions and after stimulation with adrenocorticotrophic hormone (ACTH).

Segregation of the V804L mutation and S836S polymorphism of exon 14 of the RET gene in an extended kindred with familial medullary thyroid cancer.

In multiple endocrine neoplasia type 2A (MEN 2A) and familial medullary thyroid cancer (FMTC), the majority of germline mutations are restricted to specific positions in exons 10 and 11 of the RET gene. However, germline mutations may very occasionally occur in other exons, including exon 14 of the RET gene. Interestingly, an increased frequency of a rare germline sequence variant of the RET exon 14, S836S, has been detected in patients with sporadic medullary thyroid cancer (MTC), and this variant has been proposed to play a role in the genesis of MTC and, perhaps, FMTC.

Genomics of steroid hormones: in silico analysis of nucleotide sequence variants (polymorphisms) of the enzymes involved in the biosynthesis and metabolism of steroid hormones.

Alterations of steroid hormone biosynthesis and metabolism are suspected to be involved in the pathogenesis of several diseases. Several polymorphisms of the enzymes involved in these processes have already been described and some could be associated with certain diseases. We attempted to examine the sequence variants of these genes in order to find novel variants by an in silico analysis.

Hormonal evaluation and mutation screening for steroid 21-hydroxylase deficiency in patients with unilateral and bilateral adrenal incidentalomas.

Objective: 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.

Novel sequence variants of the genes associated with the multiple endocrine neoplasia syndromes 1 and 2. analysis by an "in silico approach.".

MEN syndromes (1 and 2) are hereditary tumor syndromes inherited as autosomal dominant traits. The genes that harbor the mutations responsible for the development of these syndromes have been cloned in recent years. In the present study we applied an "in silico" approach to find previously undescribed sequence variants of the RET protooncogene and the MEN1 gene.

[Acromegaly: a disorder with distinguished features yet delayed diagnosis].

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.

Leptin inhibits cortisol and corticosterone secretion in pathologic human adrenocortical cells.

Regulation of adrenal corticosteroid secretion by leptin may involve interactions at multiple levels of the hypothalamic-pituitary-adrenal axis. To investigate the possible direct effects of leptin on corticosteroid secretion of human adrenocortical adenomas, cells from adrenocortical adenomas causing primary aldosteronism (n = 1) and Cushing's syndrome (n = 1), as well as cells from nonhyperfunctioning adrenocortical adenomas (n = 5) were isolated and incubated for 2 h with human recombinant leptin (1-1000 ng/ml) in the presence and absence of adrenocorticotrop hormone (ACTH), then cortisol, corticosterone and aldosterone concentrations in incubating media were determined using radioimmunoassays. It was found that leptin effectively and dose-dependently inhibited basal and ACTH-stimulated cortisol and corticosterone secretion in the three types of human adrenocortical adenoma cells.