Abstract:
INTRODUCTION:Confirmation of monogenic diabetes caused by glucokinase mutations (GCK-MODY) allows pharmacogenetic intervention in the form of insulin discontinuation. This is especially important among paediatric and young adult populations where GCK-MODY is most prevalent. METHODS:The study evaluated the utility of lipid parameters in screening for patients with GCK-MODY. Eighty-nine children with type 1 diabetes and 68 with GCK-MODY were screened for triglyceride (TG), total and HDL cholesterol levels. Standardization against a control group of 171 healthy children was applied to eliminate the effect of development. Clinical applicability and cut-off value were evaluated in all available patients with GCK-MODY (n = 148), hepatocyte nuclear factor 1-alpha-MODY (HNF1A MODY) (n = 37) or type 1 diabetes (n = 221). RESULTS:Lower lipid parameter values were observed in GCK-MODY than in patients with type 1 diabetes. Standard deviation scores were -0·22 ± 2·24 vs 1·31 ± 2·17 for HDL cholesterol (P < 0·001), -0·16 ± 2·14 vs 0·60 ± 1·77 for total cholesterol (P = 0·03) and -0·57 ± 0·97 vs-0·22 ± 0·97 for TG (P = 0·05). Validation analysis confirmed that HDL cholesterol was the best parameter for GCK-MODY selection [sensitivity 87%, specificity 54%, negative predictive value (NPV) 86%, positive PV 56%]. A threshold HDL concentration of 1·56 mm offered significantly better diagnostic efficiency than total cholesterol (cut-off value 4·51 mm; NPV 80%; PPV 38%; P < 0·001). TG did not offer a meaningful cut-off value. CONCLUSIONS:HDL cholesterol levels measured in individuals with likely monogenic diabetes may be useful in screening for GCK-MODY and differentiation from T1DM and HNF1A-MODY, regardless of treatment or metabolic control.
journal_name
Clin Endocrinol (Oxf)journal_title
Clinical endocrinologyauthors
Fendler W,Borowiec M,Antosik K,Szadkowska A,Deja G,Jarosz-Chobot P,Mysliwiec M,Wyka K,Pietrzak I,Skupien J,Malecki MT,Mlynarski Wdoi
10.1111/j.1365-2265.2011.04052.xsubject
Has Abstractpub_date
2011-09-01 00:00:00pages
321-7issue
3eissn
0300-0664issn
1365-2265journal_volume
75pub_type
杂志文章abstract:RATIONALE:In vitro fertilization (IVF) is a common treatment for infertility. In mice, IVF is associated with development of glucose intolerance. However, human data are limited regarding the metabolic, endocrine and inflammatory effects of IVF therapy in IVF-conceived pregnancies. OBJECTIVE:To explore effects of IVF ...
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
abstract::Serum levels of thyroxine and triiodothyronine during pregnancy were measured in women from a severely iodine deficient region in the highlands of Papua New Guinea. Subsequently the children born to these women were examined when aged 10-12 years and measures made of intellectual ability and motor competence. A signif...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1984.tb03468.x
更新日期:1984-09-01 00:00:00
abstract:OBJECTIVE:Non-tumour causes of hyperprolactinaemia, including prolactin-elevating drugs, must be excluded. There is a general view that such drugs are unlikely to raise serum PRL above 3000 mU/I, but the literature is confusing. We report 8 patients receiving treatment with neuroleptic drugs, whose serum PRL concentrat...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1046/j.1365-2265.1998.00569.x
更新日期:1998-10-01 00:00:00
abstract:OBJECTIVE:To determine the interest of Chromogranin A (CgA) determination for diagnosis and follow-up in patients with gastroenteropancreatic endocrine tumours (GEP-ET) and multiple endocrine neoplasia type 1 (MEN-1). PATIENTS AND METHODS:CgA levels were measured with an immunoradiometric assay in 124 sporadic GEP-ET,...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2004.02030.x
更新日期:2004-05-01 00:00:00
abstract:OBJECTIVE:The chromosomal regions containing the two putative tumour suppressors, fragile histidine triad gene (FHIT) and tumour suppressor gene 101 (TSG101), are deleted frequently in thyroid tumours. We therefore analysed FHIT and TSG101 transcripts in a group of advanced thyroid tumours to establish their role in th...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:
更新日期:2000-06-01 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:OBJECTIVE:Research on sources of variation in adolescent's gonadal hormone levels is limited. We sought to decompose individual differences in adolescent testosterone, estradiol, and pubertal status, into genetic and environmental components. DESIGN:A sample of male and female adolescent twins from the greater Austin ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.13522
更新日期:2018-02-01 00:00:00
abstract::Twenty women with secondary hypogonadism and four normal women in the early follicular phase of the cycle were treated for 7 days with 10, 50 or 100 micrograms synthetic LHRH administered intramuscularly at 4 h intervals. Concentrations of pituitary and ovarian hormones in plasma were measured at intervals during the ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1983.tb00737.x
更新日期:1983-07-01 00:00:00
abstract:OBJECTIVES:The role of androgen decline in the sexual activity of adult males is controversial. To clarify whether sexual function would benefit from testosterone (T) treatment in men with partially or severely reduced serum T levels, we conducted a systematic review and meta-analysis of placebo-controlled studies publ...
journal_title:Clinical endocrinology
pub_type: 杂志文章,meta分析,评审
doi:10.1111/j.1365-2265.2005.02350.x
更新日期:2005-10-01 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:OBJECTIVE:Staging systems applied to medullary thyroid cancer (MTC) rely on initial clinical and pathological features and do not consider the response to treatment. To determine whether MTC staging can be improved by incorporating the first postoperative calcitonin measurement. PATIENTS AND MEASUREMENTS:Eighty-five p...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12657
更新日期:2015-12-01 00:00:00
abstract::The ratios of reverse triiodothyronine (rT3) to triiodothyronine (T3) concentrations were similar (0.89 +/- 0.09) in twenty-three autonomous thyroid nodules (fourteen decompensated, nine compensated) and paranodular tissues (0.82 +/- 0.08), whereas the serum ratio was significantly lower (0.098 +/- 0.014). This is com...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1977.tb01310.x
更新日期:1977-08-01 00:00:00
abstract:OBJECTIVE AND DESIGN:Depot somatostatin analogues are well accepted as either adjuvant or primary therapy for acromegaly, and their long dosage intervals facilitate adherence to treatment. Our objective was to evaluate whether lanreotide Autogel 120 mg, every 4-8 weeks, was as effective in controlling acromegaly as lan...
journal_title:Clinical endocrinology
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1365-2265.2006.02595.x
更新日期:2006-09-01 00:00:00
abstract::Cardiac patients treated with the iodine-containing drug 'amiodarone' undergo a significant iodine overload which can last for months after the drug has been withdrawn. Some patients develop hyperthyroidism and others hypothyroidism. In the hyper- or hypothyroid patients, the indices of thyroid function are modified a...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1978.tb03569.x
更新日期:1978-07-01 00:00:00
abstract:BACKGROUND:Polycystic ovary syndrome (PCOS) is the most common endocrinopathy in women of reproductive age. Some evidence suggests that dysbiosis of the gut microbiota could be associated with PCOS clinical parameters, but little is known for the association between vaginal microbiome and PCOS. OBJECTIVE:To determine ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.14198
更新日期:2020-07-01 00:00:00
abstract:BACKGROUND:We recently identified a novel anorexigenic protein, nesfatin-1, which is processed from nesfatin/nucleobindin-2 (NUCB2). However, the clinical importance of this protein has not been determined. OBJECTIVE:To investigate its clinical significance in humans, we have established a new specific enzyme-linked i...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2010.03835.x
更新日期:2010-10-01 00:00:00
abstract::High gastrin levels were found in twenty-one out of fifty-six consecutive patients (38%) with thyrotoxicosis. Following return to euthyroidism gastrin levels generally fell, but twelve patients (21%) remained hypergastrinaemic. Six of these patients (11%) had achlorhydria indicating atrophic gastritis of the antrum sp...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1981.tb00607.x
更新日期:1981-02-01 00:00:00
abstract::We report the case of a male infant who at 10 days of life presented with salt-wasting. Congenital adrenal hyperplasia was excluded on the basis of normal 17 alpha-hydroxy-progesterone plasma levels evaluated before the onset of steroid replacement therapy. The incidental finding of hypertriglyceridaemia led us to sus...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1995.tb02655.x
更新日期:1995-04-01 00:00:00
abstract:OBJECTIVE:To determine the impact of energy restriction (ER) upon the previously reported increased resting and exercise-related oxygen utilization, reduced body temperature, increased serum TSH, and reduced serum free T3 concentrations found during Antarctic residence (AR). DESIGN:Prospective, intervention with both ...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2006.02588.x
更新日期:2006-08-01 00:00:00
abstract:OBJECTIVE:Mutations of the PROP1 gene lead to combined pituitary hormone deficiency (CPHD), which is characterized by a deficiency of GH, TSH, LH/FSH, PRL and, less frequently, ACTH. This study was undertaken to investigate the molecular defect in a cohort of patients with CPHD. DESIGN, PATIENTS AND MEASUREMENTS:A mul...
journal_title:Clinical endocrinology
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1365-2265.2006.02617.x
更新日期:2006-10-01 00:00:00
abstract:OBJECTIVE:Adult onset GH deficiency (GHD) is characterized by abnormalities of serum lipoprotein profiles and GH replacement results in favourable alterations in serum total and low density lipoprotein (LDL)-cholesterol. Preliminary evidence has indicated that the effect of GH replacement in this respect may be additiv...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2007.02935.x
更新日期:2007-10-01 00:00:00
abstract::Addison's disease is associated with low bone mineral density and increased risk of hip fractures. Causes are multifactorial, contributed by underlying adrenocortical hormonal deficiency, associated autoimmune endocrinopathies, electrolyte disturbances and, in some patients, supraphysiologic glucocorticoid replacement...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12730
更新日期:2015-08-01 00:00:00
abstract::A new model has been established for the perfused in situ rat lung. During perfusion with glucose at 4 mmol/l, physiological concentrations of insulin (50 mu/l) caused an initial 1.5 fold increase in lactate production; the increase being sustained at 30% for the 4 h of perfusion. The observation that the lung respond...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1977.tb01313.x
更新日期:1977-09-01 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
abstract:OBJECTIVE:The insulin tolerance test (ITT) is contraindicated in a proportion of patients with suspected ACTH deficiency. The aim of this study was to investigate the diagnostic accuracy of the glucagon stress test (GST) compared with the overnight metyrapone test (OMT) in patients with contraindications to ITT. DESIG...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/cen.12043
更新日期:2013-05-01 00:00:00
abstract::Recent reports have shown that thyroid-stimulating immunoglobulins (TSI) may be detected by measuring cyclic AMP increases in cultures of isolated thyroid cells in response to added patient immunoglobulins (Ig). We have compared the frequency that TSI may be detected in the Ig fraction of 114 sera from 112 patients wi...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1985.tb01088.x
更新日期:1985-10-01 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::Specific, homologous human neurophysin I and II radioimmunoassays were established and used to measure the individual, immunoreactive neurophysin concentrations in human plasma. Circulating levels of human neurophysin I in normal individuals were less than 1 ng/ml and neurophysin II levels were 1-2 ng/ml. During dehyd...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1979.tb02079.x
更新日期:1979-03-01 00:00:00
abstract::Hyperthyroidism is a well recognized complication of gestational trophoblastic tumours (GTT) and may be due to high circulating concentrations of human chorionic gonadotrophin (hCG) or its variants. We have studied 24 clinically euthyroid women with GTT. Eight were biochemically hyperthyroid with low or undetectable s...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.1990.tb00487.x
更新日期:1990-08-01 00:00:00
abstract:OBJECTIVE:Hyperandrogenism is one of the characteristic features of the polycystic ovary syndrome (PCOS). Androgens are important for bone mass. Studies on bone mineral density (BMD) and fractures in postmenopausal women with PCOS are lacking. The aim of this study was to investigate whether postmenopausal women with P...
journal_title:Clinical endocrinology
pub_type: 杂志文章
doi:10.1111/j.1365-2265.2012.04378.x
更新日期:2012-08-01 00:00:00