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 genetic analysis of three unrelated patients affected by pheochromocytoma. DESIGN AND PATIENTS:All the coding regions and exon-intron boundaries of RET, VHL, SDHB and SDHD genes were sequenced in three unrelated patients with intra-adrenal pheochromocytoma: a 17-year-old girl, a 15-year-old boy and a 73-year-old man. The family history of all three cases was negative for von Hippel-Lindau lesions or other types of endocrine tumours. Structural modelling of the VHL protein was then performed. RESULTS:We identified a novel germline VHL gene point mutation, a G to A nucleotide substitution in exon 3, leading to an aspartate to asparagine amino acid change in codon 197 (D197N). No mutations were found in RET, SDHB and SDHD genes. Structural modelling of the VHL protein suggests that the D197N mutation could have a functional role. CONCLUSIONS:Our study expands the number of VHL gene known mutations and indicates the usefulness of performing the genetic analysis in all patients with apparently sporadic pheochromocytoma.
journal_name
Clin Endocrinol (Oxf)journal_title
Clinical endocrinologyauthors
D'Elia AV,Grimaldi F,Pizzolitto S,De Maglio G,Bregant E,Passon N,Franzoni A,Verrienti A,Tamburrano G,Durante C,Filetti S,Fogolari F,Russo D,Damante Gdoi
10.1111/cen.12032subject
Has Abstractpub_date
2013-03-01 00:00:00pages
391-7issue
3eissn
0300-0664issn
1365-2265journal_volume
78pub_type
杂志文章abstract::Sera from patients with Graves' disease and Hashimoto's thyroiditis were reacted with normal T lymphocyte preparations in an attempt to detect binding of immunoglobulin G (IgG) to T cells. Sera from normal subjects and patients with toxic adenomas served as controls. Each serum was reacted with at least three differen...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1983.tb00739.x
更新日期:1983-07-01 00:00:00
abstract:OBJECTIVE:Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is characterized by high androgen levels, ambiguous genitalia or premature pubarche, increased height velocity and skeletal maturation. Considering the possibility of changes in the IGF system components depending on the state of c...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2004.02075.x
更新日期:2004-07-01 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:OBJECTIVE:Growth hormone release in response to all known stimuli of GH secretion is blunted in obese subjects. Several studies, using d,l-fenfluramine (d,l-FF) as a serotoninergic tool, suggest that brain serotonin plays a role in the pathogenesis of this phenomenon. However, the effect of d,l-FF appears to be depende...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1046/j.1365-2265.1996.727548.x
更新日期:1996-05-01 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:OBJECTIVE:Postablation whole-body scintigraphy, which is performed 5-7 days after administration of ablation activity of radioactive iodine-131 (131 I) in patients with thyroid cancer, is considered a routine procedure for remnant ablation and a useful tool for disease staging. However, the relationship of pre-ablation...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13158
更新日期:2017-01-01 00:00:00
abstract:BACKGROUND:Assessment of the hypothalamic-pituitary-adrenal (HPA) axis after pituitary surgery is important for appropriate decision making regarding replacement therapy. The synacthen test is often used but is questioned, as time has to elapse for adrenal atrophy to develop. OBJECTIVE:To audit the use of the 250 micr...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2005.02368.x
更新日期:2005-11-01 00:00:00
abstract::We have previously reported that L-thyroxine treated patients may often have elevated serum T4 concentrations and yet show no clinical signs of hyperthyroidism. We found that such patients had normal serum T3 concentrations. The present study explored the relationship between serum T3 and T4 and dosage of L-thyroxine....
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1985.tb00159.x
更新日期:1985-06-01 00:00:00
abstract::In order to evaluate the possible influence of GABAergic neurotransmission on the arginine vasopressin (AVP) response to osmotic and pressure volumetric stimuli, the GABAergic drug sodium valproate was administered by mouth (200 or 400 mg 16 h, 8 h and just before tests) to eight normal men before osmotic (i.v. infusi...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1989.tb00437.x
更新日期:1989-04-01 00:00:00
abstract:OBJECTIVE:The insulin tolerance test (ITT) has been suggested as the gold standard for diagnosing GH deficiency (GHD). The ITT is, however, potentially hazardous. Glucose monitoring during the ITT varies between centres and there is surprisingly little information on the actual level of blood glucose nadir and the dura...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2006.02436.x
更新日期:2006-02-01 00:00:00
abstract:OBJECTIVE:The use of ergot-derived dopamine agonists (DA) to treat patients with prolactinomas has not been associated with an increased risk of significant heart valve dysfunction. Accordingly, the present study evaluated whether the long-term use of DA for hyperprolactinaemia may be associated with increased risk of ...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1365-2265.2011.04326.x
更新日期:2012-07-01 00:00:00
abstract::A modified short ACTH test for the detection of heterozygote carriers of 21-hydroxylase deficiency (21-OHD) was applied to twenty-one controls and fourteen parents of children with 21-OHD. The following modifications were introduced: (1) Endogenous ACTH was suppressed by dexamethasone administration prior to the test,...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1980.tb01372.x
更新日期:1980-06-01 00:00:00
abstract::The paradoxical GH response to TRH observed in certain adolescents with constitutional tall stature is associated with a 60% fall in plasma levels of somatostatin. Conversely, those tall subjects who do not show a GH increase after TRH, or during a saline control infusion maintain steady levels of somatostatin in plas...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1984.tb03232.x
更新日期:1984-10-01 00:00:00
abstract::We report an 11-year-old boy with undermasculinized genitalia and an abnormally expanded CAG repeat length at exon 1 of the androgen receptor (AR) gene. He had microphallus and scrotal hypospadias with chordee, and underwent urethroplasty at 4 years of age. At 11 years of age, a gonadotropin releasing hormone (GnRH) t...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2001.01205.x
更新日期:2001-06-01 00:00:00
abstract:OBJECTIVE:A high prevalence of diabetes mellitus has been shown in patients with primary hyperparathyroidism (PHPT). However, it is unclear whether this is related to the metabolic abnormalities in PHPT or to the presence of other risk factors for glucose intolerance in these patients. The aim of our study was to deter...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1994.tb02442.x
更新日期:1994-01-01 00:00:00
abstract:OBJECTIVE:GH deficiency, either in children or in adults, is a clinically relevant problem. The diagnosis is based on dynamic tests of GH secretion, which are clear cut on a group basis but highly problematic for individual diagnosis. The controversy surrounding the diagnosis of GH deficiency reflects the absence of a ...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章
doi:10.1046/j.1365-2265.1996.00841.x
更新日期:1996-11-01 00:00:00
abstract::Thirty-three samples of follicular fluid (FF) were collected from 14 patients with the polycystic ovary (PCO) syndrome and matched for FF-volume with small follicles collected from subjects with normal ovaries. The median (range) FF concentration of insulin-like growth factor 1 (IGF1) in the group with PCO, 0.42 (0.13...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1990.tb00879.x
更新日期:1990-04-01 00:00:00
abstract::Patients with Congenital adrenal hyperplasia due to partial deficiency in the enzyme 21-hydroxylase can present in childhood or adolescence with signs of adrenal androgen excess. Strategies to reduce the impact of androgen excess in females include cosmetic measures as well as antiandrogens and agents such as the comb...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12065
更新日期:2013-03-01 00:00:00
abstract:CONTEXT AND OBJECTIVE:Nonfunctioning pituitary adenomas (NFPAs) are the most common subtype of pituitary tumour. Hypopituitarism is observed in NFPAs due to tumour- or treatment-related factors and may increase mortality risk. Here, we analysed the associations of hypopituitarism, hormone replacement and mortality in a...
journal_title:Clinical endocrinology
pub_type: 杂志文章,多中心研究
doi:10.1111/cen.13141
更新日期:2016-11-01 00:00:00
abstract:OBJECTIVE:The aim was to determine the target range into which mean daily serum cortisol should be lowered in patients on medical therapy for Cushing's syndrome, using isotopically estimated cortisol production rates as 'gold standard'. DESIGN:Patients with Cushing's syndrome on medical treatment were given 12 ng of t...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1993.tb02391.x
更新日期:1993-10-01 00:00:00
abstract:OBJECTIVE:Hypothyroidism is a common disorder and while the association of overt hypothyroidism with hypercholesterolaemia is clear, the effect upon lipids of the minor abnormalities of thyroid function often found in those receiving T4 replacement therapy is unclear. The aim of the present studies was to define in tho...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1993.tb00339.x
更新日期:1993-05-01 00:00:00
abstract:OBJECTIVE:To explore differences in irisin concentrations between lean adolescents with PCOS and age- and body mass index (BMI)-matched controls and examine the associations of irisin with core features of the syndrome. DESIGN:Cross-sectional study. PATIENTS:Lean females with PCOS, aged 13-21 years. MEASUREMENTS:Phy...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13555
更新日期:2018-04-01 00:00:00
abstract::We designed a systematic study of patients with Cushing's disease to compare the results of acute experiments with cyproheptadine, sodium valproate and bromocriptine with the results of chronic treatment with sodium valproate. In 13 patients the plasma cortisol response to single doses of 2.5 mg bromocriptine, 6 mg cy...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1986.tb03621.x
更新日期:1986-12-01 00:00:00
abstract::Severe pituitary Cushing's disease of sudden onset after 18 years of unsuccessful treatment for a previously non-functioning chromophobe adenoma is described in a middle-aged woman. Initial presentation with symptoms of optic nerve compression had been preceded by two years of amenorrhoea. Transfrontal resection of a ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1985.tb01076.x
更新日期:1985-02-01 00:00:00
abstract:OBJECTIVE:In adults, excessive GH secretion may lead to secondary diabetes mellitus, while prolonged GH treatment may accelerate the onset of type 2 diabetes mellitus in predisposed children. The aim of the study was to evaluate insulin sensitivity (IS) and glucose tolerance (GT) in a group of GH-deficient children tre...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2004.02113.x
更新日期:2004-10-01 00:00:00
abstract:OBJECTIVE:The prevalence of clinically silent corticotroph macroadenomas is unknown. Our aim was to determine the prevalence of clinically silent corticotroph macroadenomas among all pituitary macroadenomas. DESIGN:Patients scheduled to have transsphenoidal surgery for any sellar mass were prospectively evaluated clin...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13146
更新日期:2016-12-01 00:00:00
abstract:BACKGROUND:Obesity disproportionately affects African Americans (AA) (especially women), and is linked to depressed 25-hydroxyvitamin D (25-OH D) and elevated parathyroid hormone (PTH). The relationship of 25-OH D and PTH with body composition and size in AA is not well known. OBJECTIVE:To determine the relationship o...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2009.03676.x
更新日期:2010-05-01 00:00:00
abstract:CONTEXT:The inconclusive evidence regarding long-term safety of recombinant human growth hormone (rhGH) therapy underlines the need for long-term large-scale cohorts. OBJECTIVE:To assess long-term mortality and cancer incidence among patients treated with rhGH during childhood in Israel. DESIGN:A population-based coh...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13131
更新日期:2016-11-01 00:00:00
abstract:BACKGROUND:Macroadenomas represent 50% of pituitary tumours and are often (30%) nonfunctioning. Their immunophenotype suggests differentiation toward a specific pituitary cell line. A substantial proportion of tumours with particularly aggressive behaviour are so called 'silent subtype 3 adenoma'. Its diagnosis require...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2008.03514.x
更新日期:2009-07-01 00:00:00
abstract:OBJECTIVE:Scalp hair loss is often encountered in clinical practice in Japan after successful surgery for acromegaly. However, this intriguing issue has not been addressed in the literature. The aim of this study was to examine scalp hair loss after surgery for acromegaly. METHODS:Postoperative scalp hair loss was sur...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12040
更新日期:2013-09-01 00:00:00