Abstract:
OBJECTIVE:Parathyroid carcinoma remains difficult to diagnose. Recently, it has been shown that mutations in the HRPT2 gene (encoding parafibromin) are associated with the development of parathyroid carcinoma. Although MEN1 is not typically thought to be involved in carcinoma formation, parathyroid carcinoma may be an extremely rare feature of the multiple endocrine neoplasia type 1 (MEN1) syndrome. We recently concluded that loss of heterozygosity (LOH) of the MEN1 gene is present in a relatively large number of parathyroid carcinomas, often in combination with LOH at the HRPT2 locus. The aim of this study was to evaluate the role of MEN1 and HRPT2 mutations in sporadic parathyroid tumours fulfilling histological criteria for malignancy. PATIENTS AND DESIGN:Formalin-fixed, paraffin-embedded (FFPE) parathyroid carcinoma tissue from 28 cases identified in the period 1985-2000 in the Netherlands was studied. HRPT2 (27/28 cases) and MEN1 (23/28 cases) were analysed by direct sequencing. RESULTS:Somatic MEN1 mutations were found in three of 23 (13%) sporadic parathyroid carcinoma cases; these consisted of one missense and two frameshift mutations. One of the latter two cases displayed lymph-node and lung metastases during follow-up. Six HRPT2 mutations were found in 4/27 cases (15%): five were truncating mutations and one was a missense mutation. Consistent with previously published reports, we found double mutations (2x) and germline mutations (2x) in apparently sporadic parathyroid carcinomas. CONCLUSIONS:These results suggest that not only HRPT2 but also MEN1 mutations may play a role in sporadic parathyroid cancer formation.
journal_name
Clin Endocrinol (Oxf)journal_title
Clinical endocrinologyauthors
Haven CJ,van Puijenbroek M,Tan MH,Teh BT,Fleuren GJ,van Wezel T,Morreau Hdoi
10.1111/j.1365-2265.2007.02894.xsubject
Has Abstractpub_date
2007-09-01 00:00:00pages
370-6issue
3eissn
0300-0664issn
1365-2265pii
CEN2894journal_volume
67pub_type
杂志文章abstract:OBJECTIVE:To study the effects of long-term growth hormone (GH) treatment on lipid metabolism and carbohydrate tolerance in GH-deficient adults. DESIGN:Open trial of GH treatment for 4 years. GH dose was (median, range) 0.025 (0.010-0.050) IU/kg daily. PATIENTS:Thirteen GH-deficient hypopituitary adults (seven men, s...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1998.00460.x
更新日期:1998-06-01 00:00:00
abstract:OBJECTIVE:Various studies have demonstrated coexistence of ovarian and adrenal hyperandrogenism in women. This study was designed to determine whether testosterone can increase the response of the adrenal gland to stimulation by adrenocorticotrophin (ACTH). DESIGN:Non-randomized intervention in a university teaching h...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1994.tb03010.x
更新日期:1994-05-01 00:00:00
abstract:OBJECTIVE:Discontinuation of dopamine agonist (DA) treatment in women with prolactinoma after menopause is a potential approach; studies systematically assessing long-term outcomes are lacking. Our aim was to investigate the natural history of prolactinoma in this group. DESIGN/PATIENTS:Retrospective cohort study of w...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13765
更新日期:2018-09-01 00:00:00
abstract::A 25-year-old primigravid woman presented with Cushing's syndrome at 23 weeks gestation; serum cortisol was 1090 nmol/l at 0900 h, 1230 nmol/l at 2200 h; basal urinary free cortisol excretion was 3680 nmol/24 h, and 8830 nmol/24 h after dexamethasone 8 mg daily for 48 hours; plasma ACTH was < 1.1 pmol/l. CT scan of th...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1993.tb02380.x
更新日期:1993-09-01 00:00:00
abstract:OBJECTIVE:Insulin and glucocorticoids are known to increase total leptin levels. However, the effects of insulin and glucocorticoids on the components of the leptin system - free leptin (FL), bound leptin (BL) and soluble leptin receptor (SR) - have not been elucidated. The aim of this study was to determine if there i...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章
doi:10.1046/j.1365-2265.2001.01243.x
更新日期:2001-04-01 00:00:00
abstract::Prospective observational studies uniformly link vitamin D deficiency with the incidence of type 2 diabetes mellitus (T2DM), yet trials supplementing participants at risk of T2DM with vitamin D to reduce progression to T2DM have yielded inconsistent results. Inconsistencies between supplementation trials may be due to...
journal_title:Clinical endocrinology
pub_type: 杂志文章,评审
doi:10.1111/cen.12567
更新日期:2014-12-01 00:00:00
abstract:OBJECTIVE:To assess if a cell-based readout of androgen action in serum demonstrates a closer association with recognized classical parameters of androgen action in men than current measures of serum testosterone (T). DESIGN:To develop, validate and utilize a mammalian cell-based assay to measure specifically bioactiv...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2009.03595.x
更新日期:2010-01-01 00:00:00
abstract::Anti-Müllerian hormone (AMH) is a dimeric glycoprotein, a member of the transforming growth factor (TGF) superfamily. It is produced exclusively in the gonads and is involved in the regulation of follicular growth and development. In the ovary AMH is produced by the granulosa cells of early developing follicles and se...
journal_title:Clinical endocrinology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2265.2006.02533.x
更新日期:2006-06-01 00:00:00
abstract:OBJECTIVE:Circulating testosterone declines during male ageing, and low testosterone may predispose to ill health. We sought to determine whether greater participation in healthy behaviours predicted reduced risk of subsequent lower circulating testosterone in older men. DESIGN:Cross-sectional analysis of a population...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2008.03372.x
更新日期:2009-03-01 00:00:00
abstract:OBJECTIVE:The chromosomal regions containing the two putative tumour suppressors, fragile histidine triad gene (FHIT) and tumour suppressor gene 101 (TSG101), are deleted frequently in thyroid tumours. We therefore analysed FHIT and TSG101 transcripts in a group of advanced thyroid tumours to establish their role in th...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:
更新日期:2000-06-01 00:00:00
abstract::In order to investigate the mechanisms by which arginine and L-dopa cause GH release in humans we measured the GH response to GHRH 1-44 (200 micrograms i.v.), arginine (30 g i.v. over 30 min) and L-dopa (500 mg orally) administered alone and 120 minutes following pretreatment with GHRH 1-44 (200 micrograms i.v.) in no...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1365-2265.1988.tb03690.x
更新日期:1988-05-01 00:00:00
abstract:OBJECTIVE:Sex steroid hormones influence bone mineral density (BMD) in women, but are less well-studied in men. We evaluated the association of serum total and free sex steroid hormones and SHBG with osteopaenia in a nationally representative sample of men aged 20-90 years. DESIGN:BMD and sex steroid hormones were mea...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2008.03300.x
更新日期:2009-01-01 00:00:00
abstract:BACKGROUND:Iodide organification defects are frequently but not always associated with mutations in the thyroid peroxidase (TPO) gene and characterized by a positive perchlorate discharge test. These mutations phenotypically produce a congenital goitrous hypothyroidism, with an autosomal recessive mode of inheritance. ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2007.02869.x
更新日期:2007-08-01 00:00:00
abstract:INTRODUCTION:Guidelines do not currently recommend routine systematic hormonal screening for pheochromocytoma (PHEO) in all/normotensive patients with neurofibromatosis type 1 (NF1), in contrast to other PHEO-predisposing genetic syndromes such as Von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2. OBJ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13265
更新日期:2017-03-01 00:00:00
abstract:BACKGROUND:The Pro12Ala polymorphism of the peroxisome proliferator-activated receptor (PPAR) gamma gene has been associated in some, but not all, studies with lower body mass index (BMI) and improved insulin sensitivity; how an altered transcriptional activity of PPARgamma2 could influence insulin sensitivity is curre...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2002.01618.x
更新日期:2002-10-01 00:00:00
abstract::Endocrine studies, using the four hypothalamic releasing hormones, gonadotrophin releasing hormone, thyrotrophin releasing hormone, corticotrophin releasing hormone and growth hormone releasing hormone, were performed in 33 males after admission with a major head injury. The test was repeated 7 days later in all 33 pa...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1988.tb00257.x
更新日期:1988-08-01 00:00:00
abstract:OBJECTIVE:The aim of the study was to investigate whether the absence of increased 5 alpha-reductase activity explained the absence of hirsutism in premenopausal obese women with increased free testosterone (FT) levels. DESIGN:As in hyperandrogenicity there generally exists evidence for increased 5 alpha-reductase act...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1992.tb02264.x
更新日期:1992-06-01 00:00:00
abstract::Familial Isolated Pituitary Adenomas (FIPA), an autosomal dominant disease with low penetrance is being increasingly recognized. FIPA families can be divided into two distinct groups based on genetic and phenotypic features. Patients with mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene are ch...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2012.04445.x
更新日期:2012-09-01 00:00:00
abstract:OBJECTIVE:To audit the efficacy of quinagolide (CV205-502, Norprolac, Sandoz) in lowering prolactin, and its tolerability, in patients with bromocriptine resistance (BCR) or bromocriptine intolerance (BCI), in view of the paucity of results published in patients specifically with BCR or BCI, by collating results in our...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1365-2265.1994.tb02799.x
更新日期:1994-12-01 00:00:00
abstract::Non-endocrine tumours are capable of production of ectopic hormones, precursor molecules subunits and hormone-related fragments. The measurement of these may provide biochemical markers of malignancy, allowing presymptomatic diagnosis which may lead ultimately to an improved prognosis for the patient. The study of ect...
journal_title:Clinical endocrinology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2265.1976.tb03845.x
更新日期:1976-01-01 00:00:00
abstract::A recently developed radioimmunoassay for direct measurement of 18-hydroxycortisol (18-OH-F) in plasma and urine has been used to study the physiology of this newly described steroid in normal subjects. Plasma levels of 18-OH-F show a circadian variation similar to that of cortisol and are increased and suppressed by ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1985.tb01118.x
更新日期:1985-11-01 00:00:00
abstract:OBJECTIVE:The somatostatin analogue octreotide (Sandostatin, Novartis, Basie) significantly improves the syndromes suffered by most patients with neuroendocrine tumours (NETs). The use of [111In-DTPA-D-Phe1]-octreotide scintigraphy ([111In]-pentetreotide) to predict the response to octreotide treatment has been describ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1998.00373.x
更新日期:1998-03-01 00:00:00
abstract:CONTEXT:In men, obesity and the metabolic syndrome are accompanied by decreased testosterone levels, but little is known about the associations between visceral adipose tissue (VAT), VAT-related inflammation and sex steroids. OBJECTIVE:To examine the relative impact of VAT, abdominal subcutaneous adipose tissue (SAT) ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2012.04401.x
更新日期:2013-03-01 00:00:00
abstract:CONTEXT:Anaerobic capacity is impaired in adults with GH deficiency (GHD), adversely affecting physical function and quality of life (QoL). OBJECTIVE:To investigate whether GH replacement improves anaerobic capacity, physical function and QoL in adults with GHD. DESIGN:One-month double-blind placebo-controlled crosso...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13147
更新日期:2016-10-01 00:00:00
abstract:OBJECTIVE:Vasopressin (AVP) is reported to be an important factor for regulating cortisol secretion in patients with Cushing's syndrome due to ACTH-independent macronodular adrenocortical hyperplasia (AIMAH). Recently, there have been several case reports of subclinical Cushing's syndrome due to AIMAH, in which the pat...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2003.01963.x
更新日期:2004-02-01 00:00:00
abstract::The excretion of FSH, LH, oestrogens and pregnanediol was monitored once weekly in urine samples collected from eight peri-menopausal women aged 44-55 years (median, 52 years). Observations were commenced between 5 and 15 weeks before the menopause and were continued for 22-30 weeks after final menstruation. Amenorrho...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1982.tb01616.x
更新日期:1982-11-01 00:00:00
abstract:OBJECTIVE:Low growth hormone (GH) secretion and hypogonadism are common in patients with Prader-Willi syndrome (PWS). In this study we present the effects of GH treatment on body composition and metabolism in adults with PWS. PATIENTS AND MEASUREMENTS:Nineteen patients with clinical PWS were recruited, 13 had PWS geno...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1046/j.1365-2265.2003.01769.x
更新日期:2003-05-01 00:00:00
abstract::We have recently reported an impaired growth hormone (GH) response to a single i.v. bolus dose of growth hormone releasing factor (1 microgram/kg body weight) in obese women. We have now investigated whether the i.v. administration of low dose GHRF(1-29)NH2 (0.33 microgram/kg/h) by 15 min pulsed injections for 3 h fol...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1986.tb00758.x
更新日期:1986-02-01 00:00:00
abstract::We have studied the inositol phospholipid turnover response to thyrotrophin-releasing hormone (TRH) gonadotrophin-releasing hormone (GnRH) and arginine vasopressin (AVP) in five corticotroph and six somatotroph pituitary adenomas. GnRH (100 nM) increased inositol phospholipid turnover in five of five somatotroph adeno...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1990.tb00467.x
更新日期:1990-07-01 00:00:00
abstract:OBJECTIVE:The autoimmune thyroid diseases, Graves disease and autoimmune hypothyroidism, result from a complex interaction between genetic, environmental and endogenous factors. The genetic loci conferring susceptibility remain unclear. A recent report has demonstrated an association between a microsatellite polymorphi...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1997.1710996.x
更新日期:1997-05-01 00:00:00