European Journal of Endocrinology (EUR J ENDOCRINOL)

Publisher: European Federation of Endocrine Societies, BioScientifica

Journal description

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

Current impact factor: 4.07

Impact Factor Rankings

2016 Impact Factor Available summer 2017
2014 / 2015 Impact Factor 4.069
2013 Impact Factor 3.686
2012 Impact Factor 3.136
2011 Impact Factor 3.423
2010 Impact Factor 3.482
2009 Impact Factor 3.539
2008 Impact Factor 3.791
2007 Impact Factor 3.239
2006 Impact Factor 3.145
2005 Impact Factor 2.962
2004 Impact Factor 3.14
2003 Impact Factor 2.941
2002 Impact Factor 2.56
2001 Impact Factor 2.133
2000 Impact Factor 2.315
1999 Impact Factor 2.421
1998 Impact Factor 2.101
1997 Impact Factor 1.968
1996 Impact Factor 1.695
1995 Impact Factor 1.234

Impact factor over time

Impact factor

Additional details

5-year impact 3.94
Cited half-life 6.60
Immediacy index 0.73
Eigenfactor 0.02
Article influence 1.19
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

Publisher details


  • Pre-print
    • Author cannot archive a pre-print version
  • Post-print
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  • Restrictions
    • 12 months embargo
  • Conditions
    • In any repository
    • Publisher's version/PDF cannot be used
    • Set statement to accompany deposit (see policy)
    • Publisher last contacted on 18/04/2013
  • Classification

Publications in this journal

  • No preview · Article · Apr 2016 · European Journal of Endocrinology

  • No preview · Article · Mar 2016 · European Journal of Endocrinology
  • Mette Lundgren Nielsen · Manan Pareek · Margrét Leósdóttir · Kurt Højlund · Karl-Fredrik Eriksson · Peter Nilsson · Michael Hecht Olsen
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    ABSTRACT: Objective: To examine the impact of follow-up duration on the incremental prognostic yield of a baseline oral glucose tolerance test (OGTT) for predicting type 2 diabetes and to assess the discrimination ability of blood glucose (BG) obtained at different time points during OGTT. Design: Prospective, population-based cohort study (Malmö Preventive Project) with subject inclusion 1974-1992. Methods: 5,256 men without diabetes, who had BG measured at 0, 20, 40, 60, 90, and 120 min during OGTT (30 g/m2 glucose), were followed for 30 years. Incident type 2 diabetes was recorded using registries. Performance of OGTT added to a clinical prediction model (age, body mass index (BMI), diastolic blood pressure, fasting BG, triglycerides, and family history of diabetes) was assessed using Harrell's concordance index (C-index) and integrated discrimination improvement (IDI). Results: Median age was 48 years, mean BMI 24.9 kg/m2, and mean fasting BG 4.7 mmol/L. Models with added postload BG performed better than the clinical model (C-index: p=0.08 for BG at 120 min at 5 years, otherwise p≤0.045; IDI: p≥0.06 for BG at 60 and 90 min at 5 years, otherwise p≤0.01). With longer follow-up duration, C-index decreased, and the C-index increase associated with OGTT was attenuated. Models including BG at 60 or 90 min performed significantly better than the model with BG at 120 min, evident beyond follow-up of 10 and 5 years, respectively. Conclusions: OGTT provided incremental prognostic yield for type 2 diabetes prediction. BG measured at 60 or 90 min provided better discrimination than BG at 120 min.
    No preview · Article · Feb 2016 · European Journal of Endocrinology
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    ABSTRACT: Objective: To provide a detailed characterization of the androgens and androgens precursor in classic 21-hydroxylase deficiency (21OHD) and to gain insight to the mechanisms of their formation. Design: Serum samples were obtained from 38 patients (19 men) with classic 21OHD, age 3-59, and 38 sex- and age-matched controls; 3 patients with 11β-hydroxylase deficiency; 4 patients with adrenal insufficiency; and16 patients (8 men) undergoing adrenal vein sampling. Paraffin-embedded normal (n=5) and 21OHD adrenal tissue (n=3) was used for immunohistochemical studies. Methods: We measured 11 steroids in all sera using liquid chromatography-tandem mass spectrometry. Immunofluroescence localized 3β-hydroxysteroid dehydrogenase type 2 (HSD3B2) and cytochrome b5 (CYB5A) within the normal and 21OHD adrenals. Results: Four 11-oxygenated (11oxC19) steroids were significantly higher in male and female 21OHD patients than in controls: 11β-hydroxyandrostenedione, 11-ketoandrostenedione 11β-hydroxytestosterone, and 11-ketotestosterone (11KT) (3-4-fold, p< 0.0001). For 21OHD patients, testosterone and 11KT were positively correlated in females, but inversely correlated in males. All 11oxC19 steroids were higher in adrenal vein than in inferior vena cava samples from men and women and rose with cosyntropin stimulation. Furthermore, only trace amounts of 11oxC19 steroids were found in sera from patients with 11β-hydroxylase deficiency and adrenal insufficiency. The key androgenic enzymes/cofactors HSD3B2 and CYB5A immunoreactivities were sharply segregated in the normal adrenal glands, whereas areas of overlapping expression were identified in the 21OHD adrenals. Conclusions: Four 11oxC19 steroids are elevated in both men and women with classic 21OHD. Our data suggest that the 11oxC19 steroids are specific biomarkers of adrenal-derived androgen excess.
    No preview · Article · Feb 2016 · European Journal of Endocrinology
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    ABSTRACT: Insulin orchestrates physiological responses to ingested nutrients, however although it elicits widely ramifying metabolic and trophic responses from diverse tissues, "insulin resistance", a pandemic metabolic derangement commonly associated with obesity, is usually defined solely by blunting of insulin's hypoglycaemic effect. Recent study of monogenic forms of insulin resistance has established that biochemical subphenotypes of insulin resistance exist, clustering into those caused by primary disorders of adipose tissue, and those caused by primary defects in proximal insulin signalling. Insulin resistance is often first recognised by virtue of its associated disorders, including type 2 diabetes, dyslipidaemia, fatty liver and polycystic ovary syndrome. Although these clinically observed associations are confirmed by cross sectional and longitudinal population-based studies, causal relationships among these phenomena have been more difficult to establish. Single gene insulin resistance is important to recognise in order to optimise clinical management, and also permits testing of causal relationships among components of the insulin resistance syndrome using the principle of Mendelian randomisation. Thus, where a precisely defined genetic defect is identified that directly produces one component of the syndrome, then phenomena that are causally linked to that component should be seen. Where this is not the case, then a simple causal link is refuted. This article summarises known forms of monogenic severe insulin resistance and considers the lessons to be learned about the pathogenic mechanisms both upstream from common insulin resistance, and those downstream linking it to disorders such as dyslipidaemia, fatty liver, polycystic ovary syndrome and cancer.
    No preview · Article · Feb 2016 · European Journal of Endocrinology
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    ABSTRACT: Objective: Primary hyperparathyroidism is usually characterized by a monoclonal parathyroid tumor secreting excess parathyroid hormone (PTH). The main regulator of PTH secretion is calcium and the calcium-PTH set point is shifted in parathyroid tumor cells. We sought to investigate the relationship between tumor PTH and PTH mRNA expression and clinical presentation as well as regulatory factors including phosphate, vitamin D and fibroblast growth factor 23. Design: A total of 154 parathyroid tumors were analyzed with PTH immunohistochemistry and chromogenic in situ hybridization of PTH mRNA. A subset of samples (n=34) was analyzed with quantitative real time PCR. Results: Low tumor PTH mRNA was significantly associated with low tumor PTH immunoreactivity (P=0.026), but the two did not correlate with regard to histological distribution within individual tumors. Tumors displaying reduced PTH mRNA levels as compared with normal rim were significantly larger (P=0.013) and showed higher expression of the Calcium Sensing Receptor (P=0.046). Weaker tumor PTH mRNA was significantly associated with higher concentration of circulating 25-hydroxyvitamin D (P=0.005). No significant correlation was seen between PTH immunoreactivity and patient biochemistry. Tumor weight was strongly associated with circulatory concentrations of calcium and PTH. Conclusions: No areas with apparently higher PTH expression were identified, perhaps suggesting that hyperfunctioning parathyroid tumor subclones should be rare. Circulating 25-hydroxyvitamin D levels may influence tumor PTH expression in vivo. If PTH immunoreactivity reflects the tumor calcium-PTH set point, our data imply that the main determinant of disease severity should be tumor weight.
    No preview · Article · Feb 2016 · European Journal of Endocrinology
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    ABSTRACT: Objective: The aim of this study was to assess the time to insulin initiation in T2DM patients treated with oral glucose lowering agents and to determine the baseline characteristics associated with time to insulin initiation. This was evaluated in T2DM patients with HbA1c levels consistently ≥ 7.0% during total follow-up and in those with fluctuating HbA1c levels around 7.0%. Design&Methods: Prospective, observational study comprising 2,418 persons with T2DM aged ≥ 40 years who entered the Diabetes Care System, between 1998 - 2012 with a minimum follow-up of at least three years following a first HbA1c level ≥ 7.0%. Cox regression analyses were performed to assess the determinants of the time to insulin initiation. Data related to long term effects of insulin initiation were studied at baseline and end of follow up using descriptive summary statistics. Results: Two-third of the patients initiated insulin during follow up. The time to insulin varied from 1.2 years (range 0.3-3.1) in patients with HbA1c levels consistently ≥ 7.0% to 5.4 years (range 3.0-7.5) in patients with fluctuating HbA1c levels around 7.0%. Longer diabetes duration (HR1.04 95%CI 1.03-1.05) and lower age (HR1.00 95%CI 0.99-1.00) at baseline were associated with a shorter time to initiation. More insulin initiators had retinopathy compared to patients that remained on oral glucose lowering agents during follow up. Conclusions: The time to insulin initiation was short and most of the patients with HbA1c levels consistently ≥ 7.0% were initiating insulin. Longer diabetes duration and younger age shortened the time to insulin.
    No preview · Article · Feb 2016 · European Journal of Endocrinology
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    ABSTRACT: Background: Osteopontin (OPN) is a matricellular glycoprotein whose expression is elevated in various types of cancer and has been shown to be involved in tumourigenesis and metastasis in many malignancies, including follicular cell-derived thyroid carcinomas. Its role in C-cell derived thyroid lesions and tumours remains to be established. Objective: To clarify the role of OPN expression in the development of medullary thyroid carcinoma (MTC). Methods: OPN expression was analysed in a series of 116 MTCs by immunohistochemistry, and by qPCR mRNA quantification of the 3 OPN isoforms (OPNa, b and c) in 6 cases from which fresh frozen tissue was available. Statistical tests were used to evaluate the relationship of OPN expression and the clinicopathological and molecular characteristics of patients and tumours. Results: OPN expression was detected in 91 of 116 (78.4%) of the MTC. We also observed high OPN expression in C-cell hyperplasia as well as in C-cells scattered in the thyroid parenchyma adjacent to the tumours. OPN expression was significantly associated with smaller tumour size, PTEN nuclear expression and RAS status, and suggestively associated with non-invasive tumours. OPNa isoform was expressed at significantly higher levels in tumours than in non-tumour samples. OPNb and OPNc presented similar levels of expression in all samples. Furthermore, OPNa isoform overexpression was significantly associated with reduced growth and viability in the medullary thyroid carcinoma-derived cell line TT. Conclusion: The expression of OPN in normal C-cells and C-cell hyperplasia suggests that OPN is a differentiation marker of C-cells, rather than a marker of biological aggressiveness in this setting. At variance with other cancers, OPN expression is associated with good prognostic features in MTC.
    No preview · Article · Jan 2016 · European Journal of Endocrinology
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    ABSTRACT: Objective: Individuals with primary adrenal insufficiency (PAI) or congenital adrenal hyperplasia (CAH) receive life-long glucocorticoid (GC) replacement therapy. Current daily GC doses are still higher than the reported adrenal cortisol production rate. This GC excess could result in long-term morbidities such as osteoporosis. No prospective trials have investigated the long-term effect of GC dose changes in PAI and CAH patients. Methods: Prospective, longitudinal study including 57 subjects with PAI (42 women) and 33 with CAH (21 women). Bone mineral density (BMD) was measured by DXA at baseline and after two years. Subjects were divided into three groups (similar baseline characteristics) depending on changes in daily hydrocortisone equivalent dose (group1: unchanged 25·2±8·2mg (mean+SD; n=50); group2: increased 18·7±10·3 to 25·9±12·0mg (n=13); group3: decreased 30·8±8·5 to 21·4±7·2mg (n=27)). Results: Subjects in group1 showed normal lumbar and femoral Z-scores which were unchanged over time. Group2 subjects showed a significant decrease in femoral neck Z-scores over time (-0·15±1·1 to -0·37±1·0 (p<0·05)), whereas group3 subjects showed a significant increase in lumbar spine and hip Z-scores (L1-L4: -0·93±1·2 to -0·65±1·5 (p<0·05); total hip: -0·40±1·0 to -0·28±1·0 (p<0·05)). No changes in BMI over time were seen within any group. Reduction in GC dose did not increase the risk of adrenal crisis. Conclusions: For the first time we demonstrated that cautious reduction in hydrocortisone equivalent doses leads to increases in BMD, whereas dose increments reduced BMD. These data emphasize the need for the lowest possible GC replacement dose in AI patients to maintain health and avoid long-term adverse effects.
    No preview · Article · Jan 2016 · European Journal of Endocrinology
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    ABSTRACT: The concept of 'relative' adrenal insufficiency during critical illness remains a highly debated disease entity. Several studies have addressed how to diagnose or treat this condition but have often yielded conflicting results, which further fuelled the controversy. The main reason for the controversy is the fact that the pathophysiology is not completely understood. Recently, new insights in the pathophysiology of the hypothalamus-pituitary-adrenal axis response to critical illness were generated. It was revealed that high circulating levels of cortisol during critical illness are explained more by reduced cortisol breakdown than by elevated cortisol production. Cortisol production rate during critical illness is less than doubled during the day but lower than in healthy subjects during the night. High plasma cortisol concentrations due to reduced breakdown in turn reduce plasma ACTH concentrations via feedback inhibition, which with time may lead to an understimulation and hereby a dysfunction of the adrenal cortex. This could explain the high incidence of adrenal insufficiency in the prolonged phase of critical illness. These novel insights have created a new framework for the diagnosis and treatment of adrenal failure during critical illness that has redirected future research.
    Preview · Article · Jan 2016 · European Journal of Endocrinology
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    ABSTRACT: Objective: Corticotroph macroadenomas are a rare cause of Cushing's disease (CD), but their properties are not well recognized. The aim of this study is to evaluate the clinical and pathological aspects of corticotroph macroadenomas with particular emphasis on proliferation markers and their associations with the efficacy of surgical treatment. Design: Prospective cohort study in a tertiary referral centre in Poland. Methods: Fifty-nine patients with CD (20 macroadenomas and 39 microadenomas) were included in this study. Hormonal and imaging parameters, histopathological and ultrastructural features of the corticotroph tumours and the early surgical outcomes were evaluated. Results: ACTH and ACTH/cortisol ratios were higher in macroadenomas (P<0.001 and P=0.002, respectively). Greater tumour volumes were associated with higher Ki-67 and p53 expression (Ptrend=0.009 and Ptrend=0.024, respectively) and the rates of sparsely granulated adenomas (Ptrend=0.036). Immediate post-operative remission and early biochemical remission rates were lower in macroadenomas compared to microadenomas (P<0.001). A logistic regression model showed that the immediate post-operative remission or early biochemical remission depended on tumour volume (P=0.005 and P=0.006, respectively) and invasiveness based on Knosp grades 3, 4 for macroadenomas and a lack of surgical pseudocapsule for microadenomas (P=0.004 and P=0.007, respectively). Conclusions: Corticotroph macroadenomas differ from the more common microadenomas not only in terms of hormonal and imaging characteristics, but also in terms of immunohistochemical and ultrastructural features and proliferation markers. The early effectiveness of surgery depends primarily on tumour volume and invasiveness.
    No preview · Article · Jan 2016 · European Journal of Endocrinology
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    ABSTRACT: Objective: Type 2 diabetes mellitus (T2DM) is associated with endothelial dysfunction, characterized by a reduction of nitric oxide (NO)-mediated relaxation. Phosphodiesterase-5 inhibitors (PDE5i) improve NO levels. The aim of the study is to investigate whether long-term, chronic treatment with the PDE5i Vardenafil improves systemic endothelial function in diabetic men. Design: Prospective, investigator-initiated, randomized, placebo-controlled, double-blind, clinical-trial. Methods: 54 male patients affected by T2DM, diagnosed within the last 5 years, and erectile dysfunction were enrolled, regardless of testosterone (T) levels. 26 and 28 patients were assigned to verum and placebo-group, respectively. The study consisted of an enrolment phase, a treatment phase (24weeks) (Vardenafil/placebo 10mg twice-daily), and a follow-up phase (24weeks). Parameters evaluated: International Index of Erectile Function (IIEF)-15, flow mediated dilation (FMD), serum interleukin (IL)-6, endothelin (ET)-1, gonadotropins and T (measured by liquid-chromatography/tandem mass-spectrometry). Results: IIEF-15 erectile function improved during treatment (p<0.001). At the end of the treatment both FMD (p=0.040) and IL-6 (p=0.019) significantly improved. FMD correlated with serum T levels (R2=0.299, p<0.001). T increased significantly under Vardenafil treatment and returned in the eugonadal range only in hypogonadal men (n=13), without changes in gonadotropins. Chronic Vardenafil treatment did not result in relevant side effects. Conclusions: This is the first double-blind, placebo-controlled clinical-trial designed to evaluate the effects of chronic treatment of Vardenafil on endothelial health-related parameters and sexual hormones in patients affected by a chronic disease. Chronically administered Vardenafil is effective and improves endothelial parameters in T2DM patient. Moreover, chronic Vardenafil therapy improves hypogonadism in diabetic, hypogonadal men.
    No preview · Article · Jan 2016 · European Journal of Endocrinology
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    ABSTRACT: Context: Recently, germline and somatic GPR101 p.(E308D) mutation was found in patients with isolated acromegaly. It is not known whether GPR101 point mutations are associated with other histological types of pituitary adenoma. Objective: We sought germline GPR101 mutations in patients with sporadic pituitary adenomas, and compared the phenotypes of GPR101 mutation carriers and AIP mutation carriers. Design: Observational cohort study performed between 2007-2014 in a single referral center. Participants: This prospective study involved 766 unselected patients (413 women) with sporadic pituitary adenomas of all histotypes. Methods: Entire GPR101 and AIP coding sequence were screened for germline mutations. Results: Twelve patients (1.6%) were found to carry the GPR101 p.(E308D) mutation or rare GPR101 variants. The minor allele frequency of the GPR101 mutation and variants was higher in patients with pituitary adenomas than in unaffected individuals included in the Exome Aggregation Consortium database. Three of the six patients with the GPR101 p.(E308D) mutation had adult-onset acromegaly, two had ACTH-secreting adenomas, and one had a nonfunctioning macroadenoma. Six patients carried rare GPR101 variants. Germline AIP mutations or rare AIP variants were identified in 32 patients (4.2%). AIP mutation carriers were younger at diagnosis than GPR101 mutation carriers and non carriers. No patients harbored mutations in both the GPR101 and AIP genes. Conclusion: Germline GPR101 mutations are very rare in patients with sporadic pituitary adenomas of various histotypes. No digenism with AIP was identified. Further studies are required to establish whether and how genetic variation in GPR101 gene contributes to pituitary tumorigenesis.
    No preview · Article · Jan 2016 · European Journal of Endocrinology
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    ABSTRACT: Congenital hypogonadotropic hypogonadism (CHH) is characterized by lack of puberty and infertility. Traditionally, it has been considered a life-long condition yet cases of reversibility have been described wherein patients spontaneously recover function of the reproductive axis following treatment. Reversibility occurs in both male and female CHH cases and appears to be more common (approximately 10-15%) than previously thought. These reversal patients span a range of GnRH deficiency from mild to severe and many reversal patients harbor mutations in genes underlying CHH. However, to date there are no clear factors for predicting reversible CHH. Importantly, recovery of reproductive axis function may not be permanent. Thus, CHH is not always life-long and the incidence of reversal warrants periodic treatment withdrawal with close monitoring and follow-up. Reversible CHH highlights the importance of environmental (epigenetic) factors such as sex steroid treatment on the reproductive axis in modifying the phenotype. This review provides an overview and an update on what is known about this phenomenon.
    Preview · Article · Jan 2016 · European Journal of Endocrinology
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    ABSTRACT: Objectives: Inappropriate calcitonin (CT) release, a major feature of medullary thyroid cancer (MTC), may occur in neuroendocrine tumors (NETs). The aims of this retrospective study were to assess a) the characteristics and prognosis of CT-producing NETs, and b) the value of CT monitoring during follow-up. Methods: All patients with NETs in whom serum CT was assayed between 2010 and 2012 were included. MTCs were excluded. Clinical, biological, and histological characteristics were studied. Results: Twenty-one (12%) of 176 patients in whom serum CT was systematically assayed had concentrations >100 ng/L, with tumours predominantly of bronchial or pancreatic origin (p<0.0001), and of high grade (p=0.0006). Poor prognosis was linked to high CT levels, poor differentiation, and grade 3. In a total group of 24 patients with serum CT >100 ng/L, symptoms potentially attributable to CT were recorded in 8, with occasional overlap with the carcinoid syndrome among other secretory syndromes. Immunohistochemistry could be performed in 6 tumor specimens, CT being detected in 5. In 11 patients with 5 or more successive CT assays, hormone levels were fairly well correlated with clinical courses. Conclusion: serum CT levels may be raised in some patients with NETs, especially from foregut origin, and of high grade. The suggested value of CT monitoring during follow-up must be confirmed in further studies.
    No preview · Article · Dec 2015 · European Journal of Endocrinology
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    ABSTRACT: Objective: Our objective was to evaluate the efficacy and safety of sunitinib following at least one course of radioactive iodine treatment in patients with advanced differentiated thyroid cancer. The study end points included best response rate (including best objective response rate) and progression-free survival (PFS) per RECIST 1.1, measurement of serum thyroglobulin (Tg), and toxicity evaluation. Design and methods: This was a single center, nonrandomized, open-label, phase 2 clinical trial (NCT: 00668811). 23 patients were enrolled and were treated with a starting daily, oral dose of 37.5 mg of sunitinib. Patients were evaluated with imaging, laboratory tests, and physical examination periodically per protocol. Results: The mean best response was a decrease of 17.2% (Standard Deviation: 22.8) in tumor sum from baseline. 6 (26%) patients achieved a partial response (PR), and 13 (57%) had stable disease (SD) for a clinical benefit rate (PR + SD) of 83%. The overall median PFS was 241 days (interquartile limits, 114-518). No statistically significant difference was observed between the medians of the baseline and post-treatment Tg values (p=0.24). The most common adverse events included grade 1 and grade 2 decreases in blood cell counts (especially leukocytes), diarrhea, fatigue, hand-foot skin reaction, nausea, musculoskeletal pain and hypertension. Conclusions: These data demonstrate that sunitinib exhibits significant anti-tumor activity in patients with advanced differentiated thyroid cancer. Since sunitinib was relatively well tolerated, there is the potential for clinical benefit in these patients, and further investigation of this agent is warranted.
    No preview · Article · Dec 2015 · European Journal of Endocrinology
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    ABSTRACT: Objective Short stature is a key aspect of the phenotype of patients with Turner Syndrome (TS). SHOX haploinsufficiency is responsible for about two thirds of the height deficit. The aim was to investigate the effect of X-chromosome gene dosage on anthropometric parameters at birth, spontane-ous height and adult height after GH treatment. DesignWe conducted a national observational multicenter study. Methods Birth parameter SDS for gestational age, height and adult height before and after growth hormone (GH) treatment, respectively, and height deficit with respect to target height (SDS) were classified by karyotype subgroup in a cohort of 1501 patients with TS:45,X (36%), isoXq (19%), 45,X/46,XX (15%), XrX (7%), presence of Y (6%), or other karyotypes (17%). Results Birth weight, length (p<0.0001) and head circumference (p<0.001), height and height deficit with respect to target height (SDS) before GH treatment, at a median age of 8.8 (5.3-11.8) years and after adjustment for age and correction for multiple testing (p<0.0001), adult height deficit with re-spect to target height at a median age of 19.3 (18.0-21.8) years and with additional adjustment for dose and duration of GH treatment (p=0.006), were significantly associated with karyotype subgroup. Growth retardation tended to be more severe in patients with XrX, isoXq and, to a lesser extent, 45,X karyotypes, than in patients with 45,X/46,XX karyotypes or a Y chromosome. Conclusion These data suggest that haploinsufficiency for an unknown Xp gene increases the risk of fetal and postnatal growth deficit and short adult height with respect to target height after GH therapy.
    No preview · Article · Dec 2015 · European Journal of Endocrinology