Abstract:
:The citric acid cycle, also known as the Krebs cycle, plays an integral role in cellular metabolism and aerobic respiration. Mutations in genes encoding the citric acid cycle enzymes succinate dehydrogenase, fumarate hydratase and malate dehydrogenase all predispose to hereditary tumour syndromes. The succinate dehydrogenase enzyme complex (SDH) couples the oxidation of succinate to fumarate in the citric acid cycle and the reduction of ubiquinone to ubiquinol in the electron transport chain. A loss of function in the succinate dehydrogenase (SDH) enzyme complex is most commonly caused by an inherited mutation in one of the four SDHx genes (SDHA, SDHB, SDHC and SDHD). This mechanism was first implicated in familial phaeochromocytoma and paraganglioma. However, over the past two decades the spectrum of tumours associated with SDH deficiency has been extended to include gastrointestinal stromal tumours (GIST), renal cell carcinoma (RCC) and pituitary adenomas. The aim of this review is to describe the extended tumour spectrum associated with SDHx gene mutations and to consider how functional tests may help to establish the role of SDHx mutations in new or unexpected tumour phenotypes.
journal_name
Clin Endocrinol (Oxf)journal_title
Clinical endocrinologyauthors
MacFarlane J,Seong KC,Bisambar C,Madhu B,Allinson K,Marker A,Warren A,Park SM,Giger O,Challis BG,Maher ER,Casey RTdoi
10.1111/cen.14289subject
Has Abstractpub_date
2020-11-01 00:00:00pages
528-538issue
5eissn
0300-0664issn
1365-2265journal_volume
93pub_type
杂志文章,评审abstract:OBJECTIVE:Cushing's disease (CD) presents a remarkable preponderance in female gender, with a female-to-male ratio of 3-8:1. The aim of this study was to evaluate gender-related differences in the presentation of CD, as regards: biochemical indices of hypercortisolism; sensitivity of diagnostic tests; clinical features...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12299
更新日期:2014-03-01 00:00:00
abstract::A 39-year-old woman presented with secondary amenorrhoea in the absence of galactorrhoea, hirsutism or virilization. Investigation revealed a strikingly elevated serum testosterone, dihydrotesterone, free testosterone and LH level. At laparotomy a large granulosa cell tumour was encountered and totally removed. Analys...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1982.tb01628.x
更新日期:1982-12-01 00:00:00
abstract:OBJECTIVE:In January 1997 we introduced a protocol for the treatment with GH of children with impaired growth after unfractionated total body irradiation (TBI). This study is an evaluation of that protocol. PATIENTS AND METHODS:Between January 1997 and July 2005, 66 patients (48 male) treated for haematological malign...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1365-2265.2007.02930.x
更新日期:2007-10-01 00:00:00
abstract:CONTEXT:Carney complex (CNC) is an autosomal dominant multiple endocrine neoplasia syndrome (OMIM 160980). About 70% of cases are familiar; most have mutations of the PRKAR1A gene on chromosome 17q22-24. There is little phenotype-genotype correlation known to date. OBJECTIVE:To study the genotype-phenotype correlation...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2008.03286.x
更新日期:2008-11-01 00:00:00
abstract::Sleep history and pituitary function were studied and sleep polygraphy performed in 11 acromegalic patients before and after pituitary surgery. Excessive daytime sleepiness or habitual snoring or both together, as well as an elevated fasting level of serum GH occurred in all the patients. In five men but in none of th...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1987.tb02947.x
更新日期:1987-12-01 00:00:00
abstract:OBJECTIVE:The protein-tyrosine-phosphate nonreceptor 22 gene (PTPN22) has recently been identified as a susceptibility locus for a number of autoimmune diseases including Graves' disease (GD). PTPN21 is another member of the PTPN family and its gene PTPN21 maps to the first reported region of genetic linkage to GD, GD-...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2006.02608.x
更新日期:2006-09-01 00:00:00
abstract:PURPOSE:Massive macronodular adrenocortical disease (MMAD) may be caused by aberrant microRNA expression. To determine the microRNA profile in MMAD and identify putative microRNA-gene target pairs involved in adrenal tumourigenesis. EXPERIMENTAL DESIGN:We performed microRNA microarray analysis in 10 patients with ACTH...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2009.03725.x
更新日期:2010-06-01 00:00:00
abstract:OBJECTIVE:Given the important role of the beta2-adrenoceptor (beta2-AR) in lipid mobilization and the lack of studies in Southern European countries, the aim of this study was to investigate the role of the glutamine 27 glutamic acid (Gln27Glu) beta2-AR polymorphism in the susceptibility to obesity and its metabolic co...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2003.01871.x
更新日期:2003-10-01 00:00:00
abstract:OBJECTIVE:Foetal exposure to high testosterone concentrations seems to be involved in the development of mammalian brain and related to pervasive developmental disorders (PDDs). The aim of the current study was to test the hypothesis that children born from hyperandrogenic women with polycystic ovary syndrome (PCOS) ar...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2012.04443.x
更新日期:2012-12-01 00:00:00
abstract:OBJECTIVE:To document current practices in the approach to low testosterone in older men. Given that recommendations are based on low-level evidence, we hypothesized that there would be a wide variability in clinical practice patterns. DESIGN:Members of all major endocrine and andrological societies were invited to pa...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12594
更新日期:2015-02-01 00:00:00
abstract:OBJECTIVE:SRY-negative 46,XX testicular and ovotesticular disorders/differences of sex development (T/OTDSD) represent a very rare and unique DSD condition where testicular tissue develops in the absence of a Y chromosome. To date, very few studies have described the phenotype, clinical and surgical management and long...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.14389
更新日期:2020-12-09 00:00:00
abstract:CONTEXT & OBJECTIVE:A recent paper by our group reported that regular aerobic exercise during pregnancy led to lower foetal IGF-I and IGF-II concentrations and a modest reduction in offspring birth weight when compared with the offspring of nontraining control participants. Maternal hormonal alterations in response to ...
journal_title:Clinical endocrinology
pub_type: 杂志文章,随机对照试验
doi:10.1111/j.1365-2265.2010.03964.x
更新日期:2011-04-01 00:00:00
abstract:OBJECTIVE AND DESIGN:The resistance of macroprolactinomas to dopamine agonist (DA) therapy, whether defined as an absence of PRL normalization or the lack of significant tumour shrinkage after prolonged treatment at high doses, is usually regarded as unpredictable. The aim of this retrospective study, conducted in a te...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2006.02493.x
更新日期:2006-04-01 00:00:00
abstract:OBJECTIVE AND METHODS:To better understand acylghrelin plasma stability, human synthetic acylghrelin was spiked into plasma and tracked by liquid chromatography tandem mass spectrometry. To investigate the best method for quantifying clinical plasma acylghrelin levels, pre- and postprandial human blood was collected fr...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2010.03916.x
更新日期:2011-03-01 00:00:00
abstract:OBJECTIVE:Use of the antithyroid drugs (ATDs) thiamazole (MMI) and propylthiouracil (PTU) is associated with a high frequency of side effects. When patients experience side effects with one (the 1st) ATD, it is usually discontinued and another is administered (the 2nd ATD). We investigated side effects associated with ...
journal_title:Clinical endocrinology
pub_type: 杂志文章,随机对照试验
doi:10.1111/j.1365-2265.2012.04365.x
更新日期:2012-08-01 00:00:00
abstract::The age-dependent decline of the gonadal and somatotopic axis has been causally linked to frailty in the elderly by their effects on muscle mass and bone mineral density. However, for healthy men data on serum oestrogens and androgens, as well as IGF-1, as a common outcome measure covering the whole adult age range ar...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2000.01159.x
更新日期:2000-12-01 00:00:00
abstract:OBJECTIVE:Infusion of GH secretagogues appears to be a novel endocrine approach to reverse the catabolic state of critical illness, through amplification of the endogenously blunted GH secretion associated with a substantial IGF-I rise. Here we report the dynamic characteristics of spontaneous nightly TSH and PRL secre...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1046/j.1365-2265.1997.3371118.x
更新日期:1997-11-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:There are currently no sensitive and specific assays for activin B that could be utilized to study human biological fluids. The aim of this project was to develop and validate a 'total' activin B ELISA for use with human biological fluids and establish concentrations of activin B in the circula...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2009.03567.x
更新日期:2009-12-01 00:00:00
abstract:OBJECTIVE:A relationship between the serotoninergic and the opiatergic system in the pathogenesis of head pain is supported by several data. This study was carried out to investigate the neuroendocrine effects of sumatriptan, a specific serotonin agonist used in the treatment of migraine, on hypothalamic-pituitary-adre...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1365-2265.1994.tb02470.x
更新日期:1994-02-01 00:00:00
abstract:OBJECTIVE:Cushing's syndrome (CS) is a well recognized cause of bone loss. Although many previous studies have shown decreased bone mineral density (BMD) in the lumbar spina and proximal femur of patients with endogenous CS, so far, the data estimating BMD in their peripheral skeleton are sparse. The aim of the present...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2004.01968.x
更新日期:2004-02-01 00:00:00
abstract:OBJECTIVE:Reduction of plasma free fatty acids leads to enhanced GH response after stimulation by GH-releasing hormone (GHRH). We studied the clinical usefulness of combined administration of acipimox and GHRH for the diagnosis of GH deficiency. DESIGN:We evaluated 35 patients [mean age 53.0 years; mean body mass inde...
journal_title:Clinical endocrinology
pub_type: 临床试验,杂志文章
doi:10.1046/j.1365-2265.2003.01684.x
更新日期:2003-02-01 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:BACKGROUND:Proton magnetic resonance spectroscopy ((1) H-MRS) is a sensitive, noninvasive imaging technique capable of measuring brain metabolites in vivo. Chronic exposure to endogenous hypercortisolism in Cushing's syndrome (CS) is associated with negative effects on memory and hippocampal volumes, even after biochem...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12224
更新日期:2013-11-01 00:00:00
abstract::We studied day/night (D:N) patterns of urinary sodium excretion and the 24 hour ambulatory electrocardiogram in seven normal subjects before and during the administration of T4. Thyroxine increased thyroid hormone levels within the normal range and inhibited the plasma TSH response to TRH. This was associated with a s...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1983.tb02881.x
更新日期:1983-05-01 00:00:00
abstract:BACKGROUND:In patients with congenital adrenal hyperplasia (CAH) type and doses of glucocorticoids used as well as sex hormone secretion during puberty have important actions on bone mineral density (BMD) in adulthood. AIM:To evaluate BMD in adult CAH patients depending on current glucocorticoid therapy and on androge...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.14149
更新日期:2020-04-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:Inhibin B, a heterodimeric glycoprotein of gonadal origin, is the most important circulating form of inhibin in human males and an inverse relationship between inhibin B and FSH plasma levels was been recently observed. Azoospermia represents the end-point of different kinds of testicular damag...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1999.00659.x
更新日期:1999-06-01 00:00:00
abstract:CONTEXT:Two main forms of amiodarone-induced thyrotoxicosis (AIT) exist. Type 1 AIT is a form of iodine-induced hyperthyroidism. Its management is complex and includes thionamides, potassium perchlorate and, occasionally, thyroidectomy. Type 2 AIT is a destructive thyroiditis, responds to glucocorticoids, and usually d...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2007.02920.x
更新日期:2007-10-01 00:00:00
abstract::A wide variety of adverse effects of methimazole (MMI) have been reported. Here we report a new MMI-induced disorder, acute pancreatitis and parotitis. Three weeks after a woman started MMI treatment for Graves' disease, she developed a high fever, painful parotid swelling and dull pain in the upper abdomen with eleva...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1999.00888.x
更新日期:1999-11-01 00:00:00
abstract:BACKGROUND:Peroxisomal proliferator-activated receptors (PPAR)- gamma are expressed abundantly in ACTH-secreting pituitary tumours. The PPAR-gamma activator rosiglitazone has been shown to suppress ACTH secretion in human adrenocorticotroph tumour cells in vitro, and prevent and reduce adrenocorticotroph tumour develop...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2006.02501.x
更新日期:2006-05-01 00:00:00
abstract:OBJECTIVE:Serum IGF-I levels are monitored during GH replacement treatment in adults with GH deficiency (GHD) to guide GH dose adjustment and to minimize occurrence of GH-related side-effects. This is not routine practice in children treated with GH. The aim of this study was to evaluate changes in (1) serum IGF-I, IGF...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.2000.01105.x
更新日期:2000-09-01 00:00:00