Abstract：
:Phaeochromocytoma is a rare, usually benign, tumour predominantly managed by endocrinologists. Over the last decade, major advances have been made in understanding the molecular genetic basis of adrenal and extra-adrenal phaeochromocytoma (also referred to as adrenal phaeochromocytoma (aPCA) and extra-adrenal functional paraganglioma (eFPGL)). In contrast to the previously held belief that only 10% of cases had a genetic component, currently about one-third of all aPCA/eFPGL cases are thought to be attributable to germline mutations in at least nine genes (NF1, RET, SDHA, SDHB, SDHC, SDHD, TMEM127, MAX and VHL). Recognition of inherited cases of aPCA/eFPGL is critical for optimal patient management. Thus, the identification of a germline mutation can predict risks of malignancy, recurrent disease, associated non-chromaffin tumours and risks to other family members. Mutation carriers should be offered specific surveillance programmes (according to the relevant gene). In this review, we will describe the genetics of aPCA/eFPGL and strategies for genetic testing.
journal_name
Eur J Endocrinoljournal_title
European journal of endocrinologyauthors
Jafri M,Maher ERdoi
10.1530/EJE-11-0497subject
Has Abstractpub_date
2012-02-01 00:00:00pages
151-8issue
2eissn
0804-4643issn
1479-683Xpii
EJE-11-0497journal_volume
166pub_type
杂志文章,评审abstract：OBJECTIVE:Primary aldosteronism (PA) has deleterious effects on kidney function independent of blood pressure levels. Up to now, data on effectiveness of different PA therapies regarding renal function are scarce. DESIGN AND METHODS:This prospective multi-center study included 29 patients with newly diagnosed PA evalu...
journal_title：European journal of endocrinology
pub_type： 临床试验,杂志文章,多中心研究
doi：10.1530/EJE-12-0631
更新日期：2012-12-10 00:00:00
abstract：BACKGROUND:Nateglinide restores early-phase insulin secretion to feeding and reduces postprandial hyperglycaemia in type 2 diabetes. This study evaluated the effects of nateglinide on dipeptidyl peptidase-IV (DPP-IV) activity and glucose-dependent insulinotropic polypeptide (GIP) degradation. Research design and method...
journal_title：European journal of endocrinology
pub_type： 杂志文章,随机对照试验
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更新日期：2009-12-01 00:00:00
abstract：:Endogenous pathologic hypercortisolism, or Cushing's syndrome, is associated with poor quality of life, morbidity, and increased mortality. Early diagnosis may mitigate against this natural history of the disorder. The clinical presentation of Cushing's syndrome varies, in part related to the extent and duration of co...
journal_title：European journal of endocrinology
pub_type： 杂志文章,评审
doi：10.1530/EJE-15-0464
更新日期：2015-10-01 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
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更新日期：2010-03-01 00:00:00
abstract：OBJECTIVE:Estimates of the prevalence of hypothyroidism in unselected populations date from the late 1990s. We present an update on the prevalence and incidence of overt hypothyroidism in Piedmont, northwest Italy and examine the association between hypothyroidism and multiple chronic comorbidities. DESIGN AND METHODS...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-16-0559
更新日期：2017-05-01 00:00:00
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journal_title：European journal of endocrinology
pub_type： 杂志文章,评审
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更新日期：2016-04-01 00:00:00
abstract：OBJECTIVE:To evaluate the effect of the growth factor activin A on the secretion of prolactin (PRL) and GH in cultured GH3 cells. METHODS:The concentrations of PRL and GH secreted from GH3 cells cultured in media with and without activin A were measured by RIA, and the expression of PRL mRNA and GH mRNA were analyzed ...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/eje.0.1420506
更新日期：2000-05-01 00:00:00
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journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/eje.0.1420131
更新日期：2000-02-01 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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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.0.1390059
更新日期：1998-07-01 00:00:00
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journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/eje.0.1350666
更新日期：1996-12-01 00:00:00
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journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-09-0432
更新日期：2009-10-01 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-09-0044
更新日期：2009-07-01 00:00:00
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journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/eje.0.1380562
更新日期：1998-05-01 00:00:00
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journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/eje.0.1300151
更新日期：1994-02-01 00:00:00
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journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/eje.0.1470195
更新日期：2002-08-01 00:00:00
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journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-07-0017
更新日期：2007-06-01 00:00:00
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journal_title：European journal of endocrinology
pub_type： 杂志文章
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更新日期：1999-03-01 00:00:00
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pub_type： 杂志文章
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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
doi：10.1530/eje.1.02015
更新日期：2005-11-01 00:00:00
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journal_title：European journal of endocrinology
pub_type： 杂志文章,评审
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更新日期：2013-03-15 00:00:00
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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,多中心研究
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更新日期：2010-12-01 00:00:00
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journal_title：European journal of endocrinology
pub_type： 杂志文章
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更新日期：2009-09-01 00:00:00
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pub_type： 临床试验,杂志文章
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更新日期：2000-11-01 00:00:00
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journal_title：European journal of endocrinology
pub_type： 杂志文章
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更新日期：2008-05-01 00:00:00
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journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/EJE-11-0783
更新日期：2012-03-01 00:00:00
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 pa...
journal_title：European journal of endocrinology
pub_type： 杂志文章
doi：10.1530/eje.0.1430047
更新日期：2000-07-01 00:00:00
abstract：:Pituitary adenomas occur in a familial setting in multiple endocrine neoplasia type 1 (MEN1) and Carney's complex (CNC), which occur due to mutations in the genes MEN1 and PRKAR1A respectively. Isolated familial somatotropinoma (IFS) is also a well-described clinical syndrome related only to patients with acrogigantis...
journal_title：European journal of endocrinology
pub_type： 杂志文章,评审
doi：10.1530/EJE-07-0348
更新日期：2007-10-01 00:00:00
