Abstract:
UNLABELLED:A diagnosis of bilateral pheochromocytoma warrants exclusion of hereditary pheochromocytoma. OBJECTIVE:To describe the first case of a bilateral pheochromocytoma associated with V804M mutation in the RET proto-oncogene. PATIENTS:The index case was a 54-year-old man with bilateral adrenal masses discovered during a CT scan performed for other reasons. MEASUREMENTS:Genetic analysis included exons 8-11 and 13-17 in the RET proto-oncogene, all four exons and flanking intronic regions in the SDHD gene, all eight exons and flanking intronic regions in the SDHB, and all three exons in the VHL gene. RESULTS:Investigations revealed elevated urinary metanephrines (32.3 micromol/day), and laparoscopic bilateral adrenalectomy confirmed bilateral pheochromocytomas. A heterozygous V804M mutation in exon 14 of the RET was found in the index case and in four relatives. Total thyroidectomy, performed in four of five affected members in this kindred, disclosed a medullary thyroid carcinoma in the index case and in a 50-year-old woman, and nodular C-cell hyperplasia in the other two subjects. CONCLUSIONS:This clinical case suggests that individuals carrying the germline V804M mutation should be screened annually for the presence of pheochromocytoma.
journal_name
Clin Endocrinol (Oxf)journal_title
Clinical endocrinologyauthors
Recasens M,Oriola J,Fernández-Real JM,Roig J,Rodríguez-Hermosa JI,Font JA,Galofre P,López-Bermejo A,Ricart Wdoi
10.1111/j.1365-2265.2007.02830.xsubject
Has Abstractpub_date
2007-07-01 00:00:00pages
29-33issue
1eissn
0300-0664issn
1365-2265pii
CEN2830journal_volume
67pub_type
杂志文章abstract::A single fasting level of serum prolactin was measured in each of sixty control subjects and eighty-three psychiatric patients of both sexes who had been on neuroleptic therapy for 2-4 weeks (acute treatment) or at least 5 years (chronic treatment) and who were aged either 17-45 or 48-85 years. All groups of patients ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1976.tb01953.x
更新日期:1976-05-01 00:00:00
abstract::This study deals with serum prolactin concentrations during various conditions in the early puerperium in an attempt to investigate some characteristics of the mechanisms responsible for the regulation of the lactotropes. In nursing, in non-nursing, non-medicated and in non-nursing, bromocriptine-treated women prolact...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1981.tb00650.x
更新日期:1981-08-01 00:00:00
abstract:OBJECTIVE:The objective of this study was to evaluate symptoms of thyrotoxicosis, bone turnover, bone mineral density (BMD) and occult atrial fibrillation (AF) in women ≥65 years with mild endogenous subclinical hyperthyroidism (SCH). DESIGN:Cross-sectional and case-control study. PATIENTS:Signs and symptoms of thyro...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12979
更新日期:2016-07-01 00:00:00
abstract:OBJECTIVE:Vaspin is associated with metabolic parameters and insulin resistance. However, the expression of vaspin in visceral adipose tissue (VAT) in pregnant women with gestational diabetes mellitus (GDM) has not been fully explored, and the contribution of vaspin to the biological mechanisms underlying GDM remains u...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13403
更新日期:2017-10-01 00:00:00
abstract::Six girls and one boy with precocious puberty were treated with a superactive LHRH analogue (D-TRP6-LHRH) for periods ranging from 1 year to 2 years and 3 months. In the first phase of the treatment it was administered in combination with cyproterone acetate (CyA) to counteract an early stimulatory effect until inhibi...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1984.tb03433.x
更新日期:1984-04-01 00:00:00
abstract::Plasma levels of LH, FSH, oestradiol 17 beta and testosterone were measured in twenty-two men with gynaecomastia. The group was divided by age into those under and those over 50-years-old and the mean hormone levels of the two groups were compared with two groups of age-matched normal men. In the young men with gynaec...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1980.tb01025.x
更新日期:1980-07-01 00:00:00
abstract:OBJECTIVE:Nonuniformity in suppression of spermatogenesis induced by various hormones or hormone combinations has impeded the development of an effective hormonal male contraceptive. The basis for this heterogeneity in response remained unresolved to date; however, the presence of ethnic differences points to an involv...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2002.01652.x
更新日期:2002-11-01 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::The growth hormone (GH) and prolactin (PRL) responses to metoclopramide (MCP) were compared to those with arginine and insulin-induced hypoglycaemia in eight children. While a significant rise in GH release after stimulation with arginine and insulin occurred in all subjects (P less than 0.05), no significant increase...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1980.tb01380.x
更新日期:1980-06-01 00:00:00
abstract::Pituitary-dependent Cushing's syndrome is rare in childhood. Two patients are reported who had unsuccessful transsphenoidal microadenomectomy and therefore underwent pituitary radiotherapy. In both patients there was progressive normalization of hypothalamo-pituitary-adrenal function and at 8 and 10 years after radiot...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1998.00385.x
更新日期:1998-05-01 00:00:00
abstract:OBJECTIVE:Cabergoline therapy normalizes prolactin levels and reduces the size of macroprolactinomas. However there are no data indicating whether cabergoline can normalize growth hormone secretion in patients who were growth hormone deficient at the time of diagnosis of a macroprolactinoma. SUBJECTS AND METHODS:We st...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2000.01137.x
更新日期:2000-11-01 00:00:00
abstract:OBJECTIVE:Human GH treatment of short children who had intrauterine growth retardation (IUGR) results in a highly variable growth response. The object of this study was to test the hypothesis that differences in responsiveness to exogenously administered GH might reflect differences in endogenous GH secretion or sensit...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1996.732553.x
更新日期:1996-06-01 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
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.14270
更新日期:2020-12-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1976.tb01961.x
更新日期:1976-07-01 00:00:00
abstract:CONTEXT:Vitamin D-dependent rickets type 1A (VDDR-IA, OMIM 264700) is a rare autosomal recessive disorder and is caused by mutations in the CYP27B1 gene. OBJECTIVES:We aim to investigate CYP27B1 mutation in seven patients from four separate families and characterize the genotype-phenotype correlation. METHODS:The ent...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2012.04394.x
更新日期:2012-09-01 00:00:00
abstract::Plasma concentrations of FSH, LH, testosterone and prolactin have been studied in seventeen men, aged 19 to 38 years, with traumatic paraplegia. Plasma testosterone, FSH and LH values were normal in all patients. The median LH concentration in patients was significantly higher (P less than 0.05) than in controls but t...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1982.tb01594.x
更新日期:1982-09-01 00:00:00
abstract:OBJECTIVE:The newly discovered vasoactive peptides, endothelin 1, 2 and 3, and their receptors are widely distributed in various non-vascular tissues. Recent studies have suggested the presence, as well as possible regulatory roles, of endothelins at several levels of the pituitary-gonadal axis. We determined the level...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1994.tb03932.x
更新日期:1994-03-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2007.02785.x
更新日期:2007-05-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1995.tb02047.x
更新日期:1995-09-01 00:00:00
abstract:CONTEXT:Germline mutations in four genes (RET, VHL, SDHB and SDHD) are detected in about 17% of patients with apparently sporadic pheochromocytoma. Thus, genetic screening of all patients with this disease is suggested for a rational diagnostic approach and management. OBJECTIVE:To report the clinical, biochemical and...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12032
更新日期:2013-03-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1984.tb01389.x
更新日期:1984-11-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1979.tb03068.x
更新日期:1979-01-01 00:00:00
abstract::The identification of genes placing individuals at an increased risk for the development of autoimmune thyroid disease (AITD) has been a slow process. However, over the last 20 years or so real progress has been made with the mapping of novel loci, via a number of different approaches. First, through the use of tradit...
journal_title:Clinical endocrinology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2265.2007.03075.x
更新日期:2008-05-01 00:00:00
abstract::A 30 year old woman presenting with infertility was found to have elevated serum immunoreactive prolactin, TSH and total T3. These findings were eventually attributed to assay artifact when she was shown to have anti-rabbit antibodies in her serum. The possibility of laboratory artifact should be considered in clinica...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1988.tb01201.x
更新日期:1988-01-01 00:00:00
abstract:OBJECTIVE:To assess possible side-effects of long-term continuous growth hormone (GH) treatment on carbohydrate (CH) metabolism in children with short stature born small for gestational age. DESIGN:In a prospective, randomised double-blind, dose-response multicentre trial, the effect of GH treatment on CH metabolism w...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
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更新日期:2001-02-01 00:00:00
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journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1988.tb01230.x
更新日期:1988-09-01 00:00:00
abstract:OBJECTIVE:Animal studies suggest pathological foetal programming of hypothalamic circuits regulating food intake in the setting of leptin deficiency and intrauterine growth restriction (IUGR). We aimed to compare placental leptin synthesis and leptin-binding capability in venous cord blood between IUGR newborns and neo...
journal_title:Clinical endocrinology
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1365-2265.2010.03943.x
更新日期:2011-04-01 00:00:00
abstract:BACKGROUND:Acromegalic patients have increased left ventricular (LV) mass (M) and impaired diastolic function. AIM:Using ultrasonic cardiac tissue characterization, we evaluated the early changes in cardiac fibrosis (IBS) and intrinsic myocardial contractility (CVI) as well as their reversibility after treatment with ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2005.02265.x
更新日期:2005-05-01 00:00:00
abstract::Exposure to maternal hypothyroxinemia during pregnancy, which is characterized by low free T4 but normal thyroid-stimulating hormone (TSH) levels, can negatively affect the foetus. This review provides an overview of present findings concerning the association between maternal hypothyroxinemia during pregnancy and chi...
journal_title:Clinical endocrinology
pub_type: 杂志文章,评审
doi:10.1111/cen.12227
更新日期:2013-08-01 00:00:00