Abstract:
OBJECTIVES:Investigation of small numbers of parathyroid tumours by X-chromosome inactivation analysis suggests that the majority of them are monoclonal lesions most likely caused by a somatic mutation. Somatic mutations in the MEN1 gene located on chromosome 11q13 have recently been identified in 12-17% of solitary parathyroid tumours in patients with sporadic primary hyperparathyroidism, and they may be the precipitating genetic defect leading to monoclonal cell proliferation in these tumours. DESIGN:To determine the prevalence of MEN1 gene mutations in monoclonal parathyroid neoplasias we investigated 33 parathyroid tumours of patients with primary hyperparathyroidism for clonality and mutations in the MEN1 gene. METHODS:X-chromosome inactivation analysis was used to assess the clonal status of the tumours, direct sequencing of the complete coding region was applied to identify mutations in the MEN1 gene. RESULTS:Twenty-eight female patients (26 patients with solitary adenoma, 2 patients with hyperplasia) were informative for the polymorphism of the androgen receptor on the X-chromosome and could be tested for inactivation pattern. Nineteen of twenty-six (73%) solitary adenomas were monoclonal. Somatic mutations in the MEN1 gene were identified in nine cases. Six of them were found in the relatively large second exon of the MEN1 gene (A49D, 193del36, 402delC, 482del22, 547delT, W126X). One was found in exon 5 (904del9), one in exon 7 (Y327X) and one in exon 9 (R415X). Of the monoclonal tumours, 5 out of 19 (26%) harboured a somatic MEN1 gene mutation. CONCLUSIONS:In summary, 73% of the solitary parathyroid adenomas were monoclonal. In 26% of the monoclonal tumours a somatic MEN1 gene mutation has been identified. However, for 74% of monoclonal tumours of the parathyroids the underlying genetic defects are still not known.
journal_name
Eur J Endocrinoljournal_title
European journal of endocrinologyauthors
Miedlich S,Krohn K,Lamesch P,Müller A,Paschke Rdoi
10.1530/eje.0.1430047subject
Has Abstractpub_date
2000-07-01 00:00:00pages
47-54issue
1eissn
0804-4643issn
1479-683Xpii
1430047journal_volume
143pub_type
杂志文章abstract:INTRODUCTION:Patients with craniopharyngioma (CP) have disturbances of the hypothalamic-pituitary axis and serious comorbidities such as obesity. We hypothesized that the secretion of hormones regulating the nutritional status is altered in adult patients with CP compared with patients with non-functioning pituitary ad...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-13-0832
更新日期:2014-03-13 00:00:00
abstract:OBJECTIVE:The uncoupling protein 2 (UCP2) uncouples respiration from the oxidative phosphorylation in most cell types, predominantly in white fat and skeletal muscle. Since a decreased basal metabolic rate (BMR) would increase the susceptibility to weight gain, genetic alterations in the UCP2 gene could contribute to t...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1390217
更新日期:1998-08-01 00:00:00
abstract::We measured serum tumour necrosis factor-alpha (TNF-alpha) as well as interleukin-1betta (IL-1beta) and GH concentrations in 15 children with isolated growth hormone deficiency (GHD), age range 5.1-13.9 years, before and 4 and 24h after the first GH injection (0.1 IU/kg s.c.). No differences were found in basal concen...
journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章
doi:10.1530/eje.0.1380640
更新日期:1998-06-01 00:00:00
abstract:Objective:With increasing migration to Europe, diabetes diagnosis and treatment of refugees became challenging. To describe the current experience with pediatric refugees in Germany and Austria. Design and Methods:43,137 patients (<21 years) with type 1 diabetes from the diabetes patient follow-up registry (DPV) were ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-18-0898
更新日期:2019-07-01 00:00:00
abstract:OBJECTIVE:To investigate the frequencies of the major maturity-onset diabetes of the young (MODY) subtypes in a panel of Spanish families and to assess phenotypic differences in patients with the different subtypes of MODY. METHODS:Forty-eight subjects from twenty families with clinical diagnosis of MODY were studied....
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1420380
更新日期:2000-04-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1330166
更新日期:1995-08-01 00:00:00
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pub_type: 杂志文章
doi:10.1530/eje.0.1500503
更新日期:2004-04-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-18-0305
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-09-0719
更新日期:2010-02-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-16-0956
更新日期:2017-04-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-08-0135
更新日期:2008-11-01 00:00:00
abstract::The secretion of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) is regulated by gonadotropin-releasing hormone (GnRH). As men age, mean serum concentrations of immunoreactive gonadotropic hormones tend to increase, while serum testosterone concentrations tend to decline. To evaluate age-related change...
journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1530/eje.0.1350399
更新日期:1996-10-01 00:00:00
abstract::The relationship between calcitrophic hormones and blood pressure has been investigated in 583 elderly subjects who were untreated for hypertension. Univariate analysis demonstrated that serum parathyroid hormone, calcitriol, albumin and calcium were correlated significantly with mean blood pressure (r = +0.15, +0.10,...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1300446
更新日期:1994-05-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-09-0449
更新日期:2009-11-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-07-0061
更新日期:2007-07-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1460729
更新日期:2002-05-01 00:00:00
abstract:BACKGROUND:Fetal growth restriction (FGR) has been related to several health risks, which have been generally identified in small-for-gestational age (SGA) individuals. OBJECTIVE:To evaluate the impact of FGR on body composition and hormonal status in infants born either small- or appropriate-for-gestational age (AGA)...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-07-0286
更新日期:2007-11-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-19-0463
更新日期:2019-11-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.1.02015
更新日期:2005-11-01 00:00:00
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doi:10.1530/EJE-18-0582
更新日期:2018-12-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章,多中心研究
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更新日期:2015-11-01 00:00:00
abstract:OBJECTIVE:To establish an Inuit body mass index (BMI) norm from a healthy, not malnourished, pure Inuit population and to investigate the development of overweight in the Inuit in Greenland. DESIGN:Longitudinal study with 35 years follow-up on overweight among Inuit in Greenland. METHODS:The heights and weights of 97...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1510735
更新日期:2004-12-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-08-0874
更新日期:2009-05-01 00:00:00
abstract::Skeletal anabolic agents enhance bone formation, which is determined by the number and function of osteoblasts. Signals that influence the differentiation and function of cells of the osteoblast lineage play a role in the mechanism of action of anabolic agents in the skeleton. Wnts induce the differentiation of mesenc...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
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更新日期:2018-02-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章,随机对照试验
doi:10.1530/EJE-08-0339
更新日期:2008-12-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-11-0783
更新日期:2012-03-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/eje.0.1440569
更新日期:2001-06-01 00:00:00
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pub_type: 临床试验,杂志文章
doi:10.1530/eje.0.1370643
更新日期:1997-12-01 00:00:00
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pub_type: 杂志文章,评审
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更新日期:2010-10-01 00:00:00