European Journal of Endocrinology (EUR J ENDOCRINOL )

Publisher: European Federation of Endocrine Societies

Description

The journal publishes original research papers, reviews, short communications and case reports within clinical and experimental endocrinology.

Impact factor 3.69

  • Hide impact factor history
     
    Impact factor
  • 5-year impact
    3.58
  • Cited half-life
    6.30
  • Immediacy index
    0.74
  • Eigenfactor
    0.02
  • Article influence
    1.11
  • Website
    European Journal of Endocrinology website
  • Other titles
    European journal of endocrinology
  • ISSN
    0804-4643
  • OCLC
    29970781
  • Material type
    Periodical, Internet resource
  • Document type
    Journal / Magazine / Newspaper, Internet Resource

Publications in this journal

  • [Show abstract] [Hide abstract]
    ABSTRACT: To assess the evolution of body composition and bone metabolism in trans men during the first year of cross-sex hormonal therapy. In a prospective controlled study, we included 23 trans men (female-to-male trans persons) and 23 age-matched control women. In both groups, we examined grip strength (hand dynamometer), biochemical markers of bone turnover (C-terminal telopeptides of type 1 collagen (CTX) and procollagen 1 aminoterminal propeptide (P1NP)), total body fat and lean mass, and areal bone mineral density (aBMD) by dual-X-ray absorptiometry (DXA) and fat and muscle area at the forearm and calf, bone geometry, and volumetric bone mineral density (vBMD) by peripheral quantitative computed tomography (pQCT), before treatment and after 1 year of treatment with undecanoate (1000 mg i.m./12 weeks). Before hormonal treatment, trans men had similar bone and body composition compared with control women. Testosterone treatment induced in trans men a gain in muscle mass (+10.4%) and strength and loss of fat mass (-9.7%) (all P<0.001) and increased the levels of P1NP and CTX (both P<0.01). Areal and volumetric bone parameters remained largely unchanged apart from a small increase in trabecular vBMD at the distal radius and in BMD at the total hip in trans men (P=0.036 and P=0.001 respectively). None of these changes were observed in the control group. Short-term testosterone treatment in trans men increased muscle mass and bone turnover. The latter may rather reflect an anabolic effect of testosterone treatment rather than bone loss. © 2015 European Society of Endocrinology.
    European Journal of Endocrinology 02/2015; 172(2):163-71.
  • [Show abstract] [Hide abstract]
    ABSTRACT: Neuroendocrine tumours (NETs) represent a less frequent and heterogeneous group of tumours, which has experienced, in recent years, a significant increase in effective therapeutic possibilities overcoming the disappointing results from chemotherapy. Initial improvements in treatment strategies came from somatostatin analogues (SSAs) that have widely demonstrated a significant improvement in symptomatic relief and tumour control growth by a complex mechanism of action over cell survival, angiogenesis and immunomodulation. Recent investigations have pointed out novel SSAs with a wider binding profile (pasireotide), chimeric molecules against somatostatin receptors and dopamine receptors and the combination with targeted agents, such as mTOR inhibitors or antiangiogenic agents. Immunotherapy is the second cornerstone in NET treatment and has been represented with interferon alpha for a long time, with a demonstrated activity on tumour and clinical response. Its less manageable adverse events have limited its usage. However, different checkpoints in immune system regulation have been effectively targeted in different solid tumours, and novel approaches are currently arising in NETs. In conclusion, biotherapy remains an active treatment strategy for initial approach in patients with NETs. Further investigation on patients' selection, molecular profiles, treatment sequence or combination and optimisation of current and novel biotherapy agents is required. © 2015 European Society of Endocrinology.
    European Journal of Endocrinology 01/2015; 172(1):R31-R46.
  • [Show abstract] [Hide abstract]
    ABSTRACT: Adverse body compositional features and low bone mineral density (BMD) are the characteristic of patients with active Cushing's syndrome (CS). The aim of this study was to evaluate body composition and BMD in women with CS in long-term remission and the influence of polymorphisms in genes affecting glucocorticoid (GC) sensitivity on these end-points. This was a cross-sectional, case-controlled study, including 50 women previously treated for CS and 50 age and gender-matched controls. Median (interquartile range) remission time was 13 (5-19) years. Body composition and BMD were measured with dual-energy X-ray absorptiometry. Five polymorphisms in four genes associated with GC sensitivity were analysed using TaqMan or Sequenom single-nucleotide polymorphism genotyping. Patients with CS in remission had increased abdominal fat mass (P<0.01), whereas BMD was not significantly different at any site between patients and controls. In patients, the NR3C1 Bcl1 polymorphism was associated with reduced total (P<0.05) and femur neck BMD (P<0.05). The polymorphism rs1045642 in the ABCB1 gene was associated with increased abdominal fat mass (P<0.05) and decreased appendicular skeletal muscle mass (P<0.05). GC replacement was associated with reduced total BMD (P<0.01), BMD at lumbar spine (P<0.05) and increased abdominal fat (P<0.01). Ongoing GC replacement therapy together with polymorphisms in two genes related with GC sensitivity is associated with abdominal obesity and adverse skeletal health in patients with CS in long-term remission. © 2015 European Society of Endocrinology.
    European Journal of Endocrinology 01/2015; 172(1):1-10.
  • [Show abstract] [Hide abstract]
    ABSTRACT: Background: VIPomas are rare functioning neuroendocrine tumors (NET). Vasointestinal peptide (VIP) overproduction leads to the Verner-Morrison syndrome, whose management is challenging when refractory to somatostatin analogs. Case reports: Two patients with a progressive metastatic pancreatic NET and refractory VIPoma symptoms were treated with sunitinib. This led to fast and sustained total relief of VIPoma symptoms, enabling hospital discharge and improvement of their quality of life. In both cases, sunitinib discontinuation led to the quick recurrence of watery diarrhea, which resolved within a few days after reintroducing sunitinib. The anti-secretory effect of sunitinib on VIPoma syndrome was probably not related to any anti-tumor effect. These observations agree with the rare reported cases of anti-secretory effects with targeted therapies. The sunitinib-driven inhibition of multiple tyrosine-kinase receptors might act on secretory pathways and explain sunitinib's ability to improve VIPoma symptoms. Conclusion: Sunitinib could be a therapeutic option to control refractory VIPoma symptoms in patients with NET.
    European Journal of Endocrinology 01/2015; 172(1):K1-K3.
  • [Show abstract] [Hide abstract]
    ABSTRACT: Primary aldosteronism (PA) secondary to excessive and/or autonomous aldosterone secretion from the renin angiotensin system (RAS) accounts for approximately 10% of cases of hypertension and is primarily caused by bilateral adrenal hyperplasia (BAH) or aldosterone-producing adenomas (APAs). Although the diagnosis has traditionally been supported by low serum potassium levels, normokalemic and even normotensive forms of PA have been identified expanding further the clinical phenotype. Morever, recent evidence has shown that serum aldosterone correlates with increased blood pressure in the general population and even moderately raised aldosterone levels are linked to increased cardiovascular morbidity and mortality. In addition, aldosterone antagonists are effective in blood pressure control even in patients without evidence of dysregulated aldosterone secretion. These findings indicate a higher prevalence of aldosterone excess among hypertensive patients than previously considered that could be attributed to disease heterogeneity, aldosterone level fluctuations related to an adrenocorticotropin (ACTH) effect, or inadequate sensitivity of current diagnostic means to identify apparent aldosterone excess. In addition, functioning aberrant receptors expressed in the adrenal tissue have been found in a subset of PA cases that could also be related to its pathogenesis. Recently a number of specific genetic alterations, mainly involving ion homeostasis across the membrane of zona glomerulosa, have been detected in approximately 50% of patients with APAs. Although specific genotype/phenotype correlations have not been clearly identified, differential expression of these genetic alterations could also account for the wide clinical phenotype, variations in disease prevalence and performance of diagnostic tests. In the present review, we critically analyze current means used to diagnose PA along with the role that ACTH, aberrant receptor expression and genetic alterations may exert, and provide evidence for an increased prevalence of aldosterone dysregulation in patients with essential hypertension and pre-hypertension.
    European Journal of Endocrinology 12/2014;
  • [Show abstract] [Hide abstract]
    ABSTRACT: Objective: Management of insulinomas in the context of MEN1 remains poorly studied. The aim of this study was to evaluate long-term results of various surgical approaches in a large cohort of insulinoma-MEN 1 patients. Design and Methods: Consecutive insulinoma-MEN1 patients, operated on for a non-metastatic insulinoma, between 1957 and 2010, were retrospectively selected from the MEN1 database of the French Endocrine Tumor Group. The type of surgery was categorized as distal pancreatectomy (DP), total pancreatectomy/cephalic duodenopancreatectomy (TP/CDP) or enucleation (E). Primary endpoint was time until recurrence of hypoglycemia after initial surgery. Secondary endpoints were post-operative complications. Results: 73 patients (median age = 28 years) were enrolled. Surgical procedures were DP (n=46), TP/CDP (n=9), E (n=18). After a median post-operative follow-up of 9.0 years [Inter-Quartile Range (IQR): 2.5-16.5 years], 60/73 patients (82.2%) remained hypoglycemia free. E and TP/CDP were associated with a higher risk of recurrent hypoglycemia episodes (unadjusted hazard ratio: 6.18 ([95% Confidence Interval (CI): 1.54-24.8]; p=0.010) for E versus DP and 9.51 ([95% CI: 1.85-48.8]; p=0.007) for TP/CDP versus DP. After adjustment for UICC pTNM classification, enucleation remained significantly associated with a higher probability of recurrence. Long-term complications had occurred in 20 (43.5%) patients with DP, 5 (55.6%) with TP/CDP but in none of the patients having undergone E (p=0.002). Conclusion: In the French Endocrine database, DP is associated with a lower risk for recurrent hypoglycemia episodes. Due to lower morbidity, E alone might be considered as an alternative.
    European Journal of Endocrinology 12/2014;
  • [Show abstract] [Hide abstract]
    ABSTRACT: Objective: MicroRNAs (miRNAs) are involved in the regulation of adiposity, but functional studies have yielded inconclusive results. Examining the associations of circulating miRNAs levels with obesity and insulin sensitivity in human may lead to improved insight. Design and Methods: Serum samples from 112 obese and control subjects (50.0% men) were randomly divided and combined into 4 pools (28 samples in each obese or control pool). The genome-wide circulating miRNA profiles were detected via microarray. Elevated miR-122 was selected and validated in individual serum samples from 123 obese (46.7% men) and 107 control (50.0% men) young adults. Associations between circulating miR-122 levels and parameters related to adiposity, insulin resistance, lipid profiles and hepatic enzymes were further assessed. Results: Thirty-four miRNAs were found to be expressed differently in the sera of obese patients compared to control subjects (P < 0.001). Further analyses confirmed that obese patients had 3.07-fold higher circulating miR-122 levels than controls (P < 0.001). Serum miR-122 levels were correlated with Body mass index (r = 0.469), alanine aminotransferase (r = 0.634), triglycerides (r = 0.448), high density lipoprotein-cholesterol (r = -0.351) and HOMA-IR (r = 0.401, all P < 0.01). After controlling for confounding factors, miR-122 remained an independent risk factor for insulin resistance (OR = 3.379, 95% CI = 1.141 - 10.007, P = 0.028). Conclusions: Elevated circulating miR-122 is positively associated with obesity and insulin resistance in young adults. These findings provide a better understanding regarding the role of miRNAs in adiposity and insulin sensitivity.
    European Journal of Endocrinology 12/2014;
  • [Show abstract] [Hide abstract]
    ABSTRACT: OBJECTIVE Recently, an increased incidence of central diabetes insipidus in pregnancy and less frequently in post-partum period has been reported, likely favoured by some conditions occurring in pregnancy, DESIGN To investigate the influence of pregnancy on a pre-existing potential/subclinical hypothalamic autoimmunity, we studied longitudinally the overtime behavior of vasopressin-cell antibodies (AVPcAb) and post pituitary function in two young women with positive history of autoimmune diseases and presence of AVPcAb but without clinical central diabetes insipidus (CDI), became pregnant 5 and 7 months after our first observation, respectively. METHODS The behavior of post-pituitary function and AVPcAb (by immunofluorescence) were evaluated at baseline, during pregnancy and for 2 years after delivery. RESULTS AVPcAb, present at low/middle titres at baseline in both patients, showed a titre increase during the pregnancy in one and after delivery in the other, with development of clinically overt CDI. The start of therapy with 1-deamino-8-D-arginine-vasopressin (DDAVP) caused a prompt clinical remission. After a first unsuccessful attempt of withdrawal, the therapy was definitively stopped at the 6th and the 7th month of post partum period, respectively, when AVPcAb disappeared accompanied by post- pituitary function recovery, persisting until the end of the follow- up. CONCLUSION To search for AVPcAb is advisable in patients with autoimmune diseases when planning their pregnancy, because they may be considered good predictive markers of gestational or postpartum autoimmune CDI . The monitoring of AVPcAb titre and post-pituitary function during pregnancy in these patients may allow an early diagnosis and an early replacement therapy, which could be able to induce the disappearance of these antibodies with consequent complete remission of CDI.
    European Journal of Endocrinology 12/2014;
  • [Show abstract] [Hide abstract]
    ABSTRACT: Objective: To obtain structured information on the diagnostic delay in patients with Cushing's disease (CD) from the patients perspective to provide leverage points for earlier diagnosis. Design: 176 patients with ACTH-dependent CD who had received pituitary surgery completed a self-developed questionnaire on their symptomatology before the illness was diagnosed, the course and length of the diagnostic process and the role of the involved health care professionals. Methods: Data were analyzed statistically. Answers in free text options were categorized and counted. Results: The overall diagnostic process took 3.8 ± 4.8 years (median 2 y) during which 4.6 ± 3.8 (1-30) physicians were consulted, most frequently the family physician (FP; 83.0%). Presented symptoms were various and often vague e.g. "poor general condition" (at FPs) or very common in the field of the visited specialist (i.e "skin changes" at dermatologists). Women recognized the first CD symptoms themselves significantly more frequently than men, whereas physicians recognized CD symptoms significantly more frequently in males. Conclusion: A clear difficulty of diagnosing CD seems that patients describe isolated symptoms to the FP or the respective specialists according to their fields of specialization. Since FPs are contacted most frequently, they should be trained to recognize the broad spectrum of CD symptoms especially in female patients with weight gain and initiate endocrinological referral.
    European Journal of Endocrinology 12/2014;
  • European Journal of Endocrinology 12/2014;
  • [Show abstract] [Hide abstract]
    ABSTRACT: Objective: The effects of vitamin D in the elderly are inconsistent. The aim of this study was to evaluate the association between vitamin D status and the metabolic syndrome (MetS) in the elderly, as well as between vitamin D status and the components of MetS (i.e. serum glucose, triglycerides (TG), HDL cholesterol (HDL-C), waist circumference (WC), and blood pressure (BP)). Methods: The study was embedded in the Rotterdam Study, a population-based cohort of middle-aged and elderly adults. We analyzed data from 3240 people (median age 71.2 years) who did not have type 2 diabetes mellitus at baseline. Results: We found higher 25-hydroxyvitamin D (25(OH)D) concentrations associated with lower prevalence of MetS (Odds Ratio (OR); 95% Confidence Interval (CI): 0.61; 0.49, 0.77 for adequate levels (≥75nmol/l) versus deficiency (<50nmol/l) . Additionally, in analysis of the individual components, the ORs for adequate versus deficient vitamin D levels were: 0.66 (95%CI 0.53,0.83) for elevated WC, 0.67 (95%CI 0.52,0.86) for reduced HDL-C, 0.69 (95%CI 0.54,0.88) for elevated triglycerides, 0.80 (95%CI 0.65,0.99) for elevated fasting glucose. Vitamin D was not associated with elevated blood pressure, ORs for adequacy versus deficiency were 0.82 (95%CI 0.65,1.03). Conclusion: Higher 25(OH)D concentrations in the elderly are associated with lower prevalence of MetS and, in particular, with more beneficial HDL-C, TG, WC and serum glucose. Since the prevalence of vitamin D deficiency is common worldwide and its risk increases with age, if causality is proven, benefits of improving vitamin D status among the elderly may be great.
    European Journal of Endocrinology 12/2014;
  • [Show abstract] [Hide abstract]
    ABSTRACT: Pituitary tumour apoplexy (PA) is a rare clinical syndrome that occurs as a result of acute haemorrhage and/or infarction within a frequently undiagnosed pituitary tumour. The sudden enlargement of the pituitary mass undergoing PA is responsible for a wide range of acute symptoms/signs (severe headache, visual loss, diplopia, hypopituitarism, impaired consciousness) which, together with the radiological evidence of a pituitary lesion, establish the diagnosis. The optimal care of PA requires involvement of a multidisciplinary team including endocrinologist, neurosurgeon, neuroophthalmologist and the management strategy depends on the clinical manifestations, as well as the presence of co-morbidities. Prompt surgical decompression is initially indicated in cases with severe or progressive impairment of the visual acuity or the visual fields or with altered mental state and leads to visual and neurological recovery in most of the patients. Patients with mild, stable clinical picture (including those with isolated ocular palsies) can be managed conservatively (support of fluid and electrolyte balance and stress doses of steroids in most cases) with favourable visual and neurological outcome. Frequent reassessment is mandatory because the clinical course can be unpredictable; if progression of symptoms occurs, later elective surgery is indicated and is beneficial, especially in terms of visual outcome. The endocrinological outcome is less favourable, irrespective of the treatment option, with many patients remaining on long-term replacement therapy. Despite the above guidelines, clear proof of optimal outcomes in the form of randomised controlled trials is lacking. Regrowth of the pituitary tumour years after a PA episode is possible and patients require long-term surveillance.
    European Journal of Endocrinology 12/2014;
  • [Show abstract] [Hide abstract]
    ABSTRACT: The role of key cell cycle regulation genes such as, CDKN1B, CDKN2A, CDKN2B, and CDKN2C in sporadic medullary thyroid carcinoma (s-MTC) is still largely unknown. In order to evaluate the influence of inherited polymorphisms of these genes on the pathogenesis of s-MTC, we used TaqMan SNP genotyping to examine 45 s-MTC patients carefully matched with 98 controls. A multivariate logistic regression analysis demonstrated that CDKN1B and CDKN2A genes were related to s-MTC susceptibility. The rs2066827*GT+GG CDKN1B genotype was more frequent in s-MTC patients (62.22%) than in controls (40.21%), increasing the susceptibility to s-MTC (OR=2.47; 95% CI=1.048-5.833; P=0.038). By contrast, the rs11515*CG+GG of CDKN2A gene was more frequent in the controls (32.65%) than in patients (15.56%), reducing the risk for s-MTC (OR=0.174; 95% CI=0.048-0.627; P=0.0075). A stepwise regression analysis indicated that two genotypes together could explain 11% of the total s-MTC risk. In addition, a relationship was found between disease progression and the presence of alterations in the CDKN1A (rs1801270), CDKN2C (rs12885), and CDKN2B (rs1063192) genes. WT rs1801270 CDKN1A patients presented extrathyroidal tumor extension more frequently (92%) than polymorphic CDKN1A rs1801270 patients (50%; P=0.0376). Patients with the WT CDKN2C gene (rs12885) presented larger tumors (2.9±1.8 cm) than polymorphic patients (1.5±0.7 cm; P=0.0324). On the other hand, patients with the polymorphic CDKN2B gene (rs1063192) presented distant metastases (36.3%; P=0.0261). In summary, we demonstrated that CDKN1B and CDKN2A genes are associated with susceptibility, whereas the inherited genetic profile of CDKN1A, CDKN2B, and CDKN2C is associated with aggressive features of tumors. This study suggests that profiling cell cycle genes may help define the risk and characterize s-MTC aggressiveness. © 2014 European Society of Endocrinology.
    European Journal of Endocrinology 12/2014; 171(6):761-7.
  • [Show abstract] [Hide abstract]
    ABSTRACT: Background: Reports conflict concerning measurements of plasma metanephrines for diagnosis of pheochromocytomas/paragangliomas (PPGL) by immunoassays compared to other methods. We aimed to compare the performance of a commercially available enzyme-linked immunoassay (EIA) with liquid chromatography tandem mass spectrometric (LC-MS/MS) measurements of metanephrines to diagnose PPGLs. Methods: In a sub-study of a prospective, multicenter trial to study the biochemical profiles of monoamine-producing tumors, we included 341 patients (174 males, 167 females) with suspected PPGL (median age 54 years), of whom 54 had confirmed PPGL. Plasma metanephrines were measured by EIA and LC-MS/MS, each in a specialized laboratory. Results: Plasma normetanephrine and metanephrine were measured 60% and 39% lower by EIA than by LC-MS/MS. Using upper cut-offs stipulated for the EIA, diagnostic sensitivity was only 74.1% at a specificity of 99.3%. In contrast, use of similar cut-offs for metanephrine and overall lower age-adjusted cut-offs for normetanephrine measured by LC-MS/MS returned a diagnostic sensitivity and specificity of 98.1% and 99.7%. Areas under receiver-operating characteristic curves, nevertheless, indicated comparable diagnostic performance of the EIA (0.993) and LC-MS/MS (0.985). Diagnostic sensitivity for the EIA increased to 96.2% with minimal loss in specificity (95.1%) following use of cut-offs for the EIA adapted to correct for the negative bias. Conclusions: EIA underestimates plasma metanephrines and diagnostic sensitivity is poor using commonly stipulated cut-offs, resulting in high risk for missing patients with PPGLs. Correction of this shortcoming can be achieved by appropriately determined cut-offs resulting in comparable diagnostic performance of EIA and LC-MS/MS assays.
    European Journal of Endocrinology 12/2014;
  • [Show abstract] [Hide abstract]
    ABSTRACT: Objective: Germany was iodine deficient until the mid-1990s when a nationwide iodine fortification program became effective. It is expected that after a longer period of sufficient iodine supply median TSH values in the general population will shift to the right. Hence, the previous TSH reference range does not reflect the current TSH distribution in the general population of Germany. Thus, we aimed to establish a new reference range for serum TSH levels. Design and Methods: We used data from the Study of Health in Pomerania TREND, a population-based study including 4420 individuals. The reference population consisted of 1596 individuals without diagnosed thyroid diseases or thyroid-related findings in ultrasound and serum analysis. Serum TSH levels were measured by an immunochemiluminescent procedure on a Siemens Dimension Vista. Results: The overall reference range for TSH was 0.49 mIU/L (95%-CI = 0.44; 0.53) - 3.29 mIU/L (95%-CI = 3.08; 3.50). The lower reference limit differed significantly by sex, whereas the upper reference limit showed no significant difference between males and females. Age was significantly associated with the 2.5th TSH percentile in males but not in females, whereas age was significantly associated in males and females for the 97.5th TSH percentile. Conclusions: We demonstrate a shift towards the right of the TSH reference range in comparison to data from the same study region ten years earlier, which is likely due to the improved iodine supply of the study region. Our study indicates that TSH reference limits are dependent on past and current iodine supply of populations.
    European Journal of Endocrinology 12/2014;
  • [Show abstract] [Hide abstract]
    ABSTRACT: Context and Objective: Patients with cranial diabetes insipidus (CDI) are at risk of developing both hypernatraemia and hyponatraemia, due to the condition itself, or secondary to treatment with vasopressin-analogues, or during administration of intravenous fluids. We aimed to assess the frequency and impact of dysnatraemias in the inpatient (INPT) and outpatient (OPT) setting in desmopressin-treated CDI, comparing those with normal thirst to those with abnormal thirst. Design: 192 patients with cranial diabetes were identified from the Beaumont Pituitary Database, a tertiary referral centre. Retrospective case note audit was performed and the clinical and biochemical information of 147 patients with CDI were available for analysis. Results: 4142 plasma sodium measurements for 137 patients with normal thirst, and 385 plasma sodium measurements for 10 patients with abnormal thirst were analysed. In those with normal thirst the most common OPT abnormality was mild hyponatremia (pNa+ 131-134mmol/l) in 27%, while 14.6% had more significant hyponatraemia (pNa+ <130mmol/l). 5.8% of patients with normal thirst were admitted due to complications directly related to hyponatraemia. Compared to patients with normal thirst, those with abnormal thirst were more likely to develop significant OPT hypernatraemia (20% v 1.4%, p0.02) and significant INPT hyponatraemia (50% v 11.1%, p0.02). Conclusion: Outpatient management of CDI is complicated by a significant incidence of hyponatraemia. In contrast, OPT hypernatraemia is almost exclusively a complication seen in adipsic CDI, who also had more frequent in-patient hyponatraemia. CDI associated with thirst disorder requires increased physician attention and patient awareness of potential complications.
    European Journal of Endocrinology 11/2014;
  • [Show abstract] [Hide abstract]
    ABSTRACT: Objective: To assess whether single nucleotide polymorphisms of HSD17B5 (rs1937845 and rs12529) and HSD17B6 (rs898611) are associated with polycystic ovary syndrome (PCOS) in Chinese population. Design: Case-control study. Methods: In this study, 335 patients with PCOS and 354 controls were recruited. The genotypes of HSD17B5 (rs1937845 and rs12529) and HSD17B6 (rs898611) were detected using TaqMan method. Results and conclusions: We found that the genotypic frequencies of the rs1937845 polymorphism were different in PCOS compared with control, with the CT genotype being more commonly found in PCOS patients than in controls (P = 0.005). We observed a significantly 1.74-fold higher risk of CT genotype in the polymorphism rs1937845 in women with PCOS versus the control group (adjusted OR, 1.74, 95% CI = 1.19-2.54, P = 0.005). A similar, significant 1.47-fold higher risk (adjusted OR, 1.47, 95% CI = 1.07-2.03, P = 0.018) was demonstrated for T allele of polymorphism rs1937845 associated with PCOS. In patients with PCOS, the rs12529 (G>C) and rs1937845 (C>T) polymorphisms were strongly associated with the high level of testosterone. The TT-carriers of polymorphism rs1937845 had a significantly increased homeostatic model assessment-B% (HOMA-B%) (P = 0.045) and that might be associated with the high risk of insulin resistance. However, no significant difference was found in genotype or allele distributions of the polymorphisms of rs12529 in HSD17B5 and rs898611 in HSD17B6 between PCOS patients and controls. Additionally, the two polymorphisms of HSD17B5 are associated with hyperandrogenemia in PCOS patients. In conclusion, our findings showed a significant statistical association between HSD17B5 rs1937845 and PCOS risk in Chinese women. The CT genotype and 'T' allele frequency influences significantly higher in PCOS patients than controls. Further studies are needed to confirm the results and find out the exact molecular mechanism of the polymorphism on the risk of hyperandrogenemia and PCOS.
    European Journal of Endocrinology 11/2014;
  • [Show abstract] [Hide abstract]
    ABSTRACT: Perturbations of the composition and function of the gut microbiota have been associated with metabolic disorders including obesity, insulin resistance and type 2 diabetes. Studies in mice have demonstrated several underlying mechanisms including host signalling through bacterial lipopolysaccharides derived from the outer membranes of Gram-negative bacteria, bacterial fermentation of dietary fibres to short-chain fatty acids and bacterial modulation of bile acids. On top of this, an increased permeability of the intestinal epithelium may lead to increased absorption of macromolecules from the intestinal content resulting in systemic immune responses, low-grade inflammation and altered signalling pathways influencing lipid and glucose metabolism. Whereas mechanistic studies in mice collectively support a causal role of the gut microbiota in metabolic diseases, the majority of studies in humans is correlative of nature and thus hinder causal inferences. Importantly, several factors known to influence the risk of type 2 diabetes, e.g., diet and age, have also been linked to alterations in the gut microbiota complicating the interpretation of correlative studies. However, based upon the available evidence it is hypothesized that the gut microbiota may mediate or modulate the influence of lifestyle factors triggering development of type 2 diabetes. Thus, the aim of the present review is to critically discuss the potential role of the gut microbiota in the pathophysiology and pathogenesis of type 2 diabetes.
    European Journal of Endocrinology 11/2014;