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European Journal of Endocrinology

Vince Kornél Grolmusz, Annamária Kövesdi, Katalin Borka, Peter Igaz, Attila Patocs
Objective Pancreatic neuroendocrine neoplasms (PanNENs) are rare tumors arising from the endocrine pancreas, however their prognosis differs significantly upon their proliferative state which is characterized by histopathological grading. MiRNAs are small, noncoding RNAs posttranscriptionally regulating gene expression. Our aim was to identify miRNAs with altered expression upon proliferation which can be used as prognostic biomarkers in PanNENs. Methods MiRNA expression profiles of 40 PanNENs were downloaded from Gene Expression Omnibus and were reanalyzed upon tumor grades (discovery cohort)...
July 13, 2018: European Journal of Endocrinology
Nicolas Nicolaides, George Chrousos
Glucocorticoids signal through their cognate, ubiquitously expressed glucocorticoid receptor (GR), which influences the transcription of a large number of target genes. Several genetic defects, including point mutations, deletions or insertions in the NR3C1 gene that encodes the GR, have been associated with familial or sporadic generalized glucocorticoid resistance or Chrousos syndrome. One of the clinical manifestations of this rare endocrine condition is bilateral adrenal hyperplasia due to compensatory elevations of plasma ACTH concentrations...
July 13, 2018: European Journal of Endocrinology
Anjana Radhakutty, Morton G Burt
Glucocorticoids are frequently prescribed to patients with a wide range of inflammatory and autoimmune diseases. The semi-synthetic glucocorticoid prednisolone is most commonly prescribed and in two main patterns. Prednisolone is prescribed short-term at medium-high doses to treat an acute inflammatory illness or long-term at lower doses to attenuate chronic inflammatory disease progression. In hospitalized patients with acute prednisolone-induced hyperglycaemia there is a distinct circadian pattern of glucose elevation, which occurs predominantly in the afternoon and evening...
July 10, 2018: European Journal of Endocrinology
Laura Audí, S Faisal Ahmed, Nils Krone, Martine Cools, Ken McElreavey, Paul-Martin Holterhus, Andy Greenfield, Anu Bashamboo, Olaf Hiort, Stefan A Wudy, Ruth McGowan
The differential diagnosis of differences or disorders of sex development (DSD) belongs to the most complex fields in medicine. It requires a multidisciplinary team conducting a synoptic and complementary approach consisting of thorough clinical, hormonal and genetic workups. This position paper of EU COST (European Cooperation in Science and Technology) Action BM1303 "DSDnet" was written by leading experts in the field and focuses on current best practice in genetic diagnosis in DSD patients. Ascertainment of the karyotpye defines one of the three major diagnostic DSD subclasses and is therefore the mandatory initial step...
July 4, 2018: European Journal of Endocrinology
Athanasios Fountas, Shu Teng Chai, Chrysoula Kourkouti, Niki Karavitaki
The use of opioids has grown substantially over the past two decades reaching the dimensions of a global epidemic. These drugs have effects on multiple levels of the endocrine system through mechanisms which are still not fully elucidated, and awareness of their endocrine sequelae is vital for all specialists prescribing or managing patients on them. Hypogonadism is the most well recognised consequence of opioid use (prevalence 21-86%) which, however, may remain undiagnosed with potential adverse outcomes for the patients...
July 4, 2018: European Journal of Endocrinology
Brandon Patrick Galm, Edgar Leonardo Martinez-Salazar, Brooke Swearingen, Martin Torriani, Anne Klibanski, Miriam A Bredella, Nicholas Tritos
BACKGROUND: There are limited predictors of prognosis in patients with clinically non-functioning pituitary adenomas (NFPAs). We hypothesized that MRI texture analysis may predict tumor recurrence or progression in patients with NFPAs undergoing transsphenoidal pituitary surgery (TSS). OBJECTIVE: To characterize texture parameters on preoperative MRI examinations in patients with NFPAs in relation to prognosis. METHODS: Retrospective study of patients with NFPAs who underwent TSS at our institution between 2009-2010...
July 4, 2018: European Journal of Endocrinology
Laurence Dumeige, Livie Chatelais, Claire Bouvattier, Marc De Kerdanet, Hyon Capucine, Blandine Esteva, Dinane Samara-Boustani, Delphine Zénaty, Marc Nicolino, Sabine Baron, Chantal Metz, Naud-Saudreau Catherine, Clementine Dupuis, Juliane Leger, Jean-Pierre Siffroi, Bruno Donadille, Sophie Christin-Maitre, Jean-Claude Carel, Regis Coutant, Laetitia Martinerie
OBJECTIVE: Few studies of patients with a 45,X/46,XY mosaicism have considered those with normal male phenotype. The purpose of this study was to evaluate the clinical outcome of 45,X/46,XY boys born with normal or minor abnormalities of external genitalia, notably in terms of growth and pubertal development. METHODS: Retrospective longitudinal study of 40 patients followed between 1982 and 2017 in France. RESULTS: Twenty patients had a prenatal diagnosis whereas 20 patients had a postnatal diagnosis, mainly for short stature...
July 4, 2018: European Journal of Endocrinology
Cheol Ryong Ku, Thierry Brue, Katharina Schilbach, Stanislav Ignatenko, Sándor Magony, Yoon-Sok Chung, Byung-Joon Kim, Kyu Yeon Hur, Ho-Cheol Kang, Jung Hee Kim, Min Seon Kim, Aldona Kowalska, Marek Bolanowski, Marek Ruchala, Svetozar Damjanovic, Juraj Payer, Yun Jung Choi, Su Jin Heo, Tae Kyoung Kim, MinKyu Heo, Joan Lee, Eun Jig Lee
OBJECTIVE: Hybrid Fc-fused rhGH (GX-H9) is a long-acting recombinant human growth hormone (GH) under clinical development for both adults and children with GH deficiency (GHD). We compared the safety, pharmacokinetics, and pharmacodynamics of weekly and every other week (EOW) dosages of GX-H9 with those of daily GH administration in adult GHD (AGHD) patients. DESIGN: This was a randomized, open-label, active-controlled, and dose-escalation study conducted in 16 endocrinology centers in Europe and Korea...
July 4, 2018: European Journal of Endocrinology
Tareck Rharass, Stephanie Lucas
Bone marrow adipocytes (BMA) constitute an original and heterogeneous fat depot whose development appears interlinked with bone status throughout life. The gradual replacement of the hematopoietic tissue by BMA arises in a well-ordered way during childhood and adolescence concomitantly to bone growth and continues at a slower rate throughout the adult life. Importantly, BM adiposity quantity is found well associated with BMD (Bone Mineral Density) loss at different skeletal sites in primary osteoporosis such as in ageing or menopause but also in secondary osteoporosis consecutive to anorexia nervosa...
July 4, 2018: European Journal of Endocrinology
I Huhtaniemi
The two pituitary gonadotrophins, luteinising hormone (LH) and follicle-stimulating hormone (FSH), and in particular LH-stimulated high intratesticular (IT) testosterone (T) concentration, are considered crucial for spermatogenesis. We have revisited these concepts in genetically modified mice, one being the LH receptor (R) knockout mouse (LuRKO), the other a transgenic mouse expressing in Sertoli cells a highly constitutively active mutated Fshr (Fshr-CAM). It was found that full spermatogenesis was induced by exogenous T treatment in LuRKO mice at doses that restored ITT concentration to a level corresponding to normal circulating T levels in wild-type (WT) mice, ≈ 5 nmol/L, which is 1...
June 29, 2018: European Journal of Endocrinology
Lenore DeMartino, Rebecca McMahon, Michele Caggana, Norma Parvin Tavakoli
OBJECTIVE: Newborn screening for congenital hypothyroidism (CH) is based on testing for the markers thyroxine (T4) and/or thyroid stimulating hormone (TSH). Diagnosis of CH is complicated because many factors affect the levels of these hormones including infant birth weight, prematurity, and age at specimen collection. We investigated whether the sex of the newborn affected the levels of T4 and TSH and consequently the outcome of newborn screening. DESIGN: In New York State, the Newborn Screening program initially tests all infants for T4 and any baby with a result in the lowest 10% is triaged for TSH screening...
June 26, 2018: European Journal of Endocrinology
Marianne Skovsager Andersen, Dorte Glintborg
Polycystic ovary syndrome (PCOS) is common in premenopausal women. The majority of women with PCOS have insulin resistance and the risk of type 2 diabetes mellitus (T2D) is higher in women with PCOS compared to controls. In non-pregnant women with PCOS, glycemic status may be assessed by oral glucose tolerance test (OGTT), fasting plasma glucose (FPG), or HbA1c. OGTT has been reckoned gold standard test for diagnosing T2D, but OGTT is rarely used for diagnostic purpose in other non-pregnant individuals at risk of T2D, apart from PCOS...
June 19, 2018: European Journal of Endocrinology
Elfi B Conemans, Lutske Lodewijk, Cathy M Moelans, G Johan A Offerhaus, Carolina R C Pieterman, Folkert H Morsink, Olaf M Dekkers, Wouter W de Herder, Ad R Hermus, Anouk N A van der Horst-Schrivers, Madeleine L Drent, Peter H Bisschop, Bas Havekes, Lodewijk A A Brosens, Koen M A Dreijerink, Inne H M Borel Rinkes, H Th Marc Timmers, Gerlof D Valk, Menno R Vriens
OBJECTIVE: Epigenetic changes contribute to pancreatic neuroendocrine tumor (PanNET) development. Hypermethylation of promoter DNA as a cause of tumor suppressor gene silencing is a well-established oncogenic mechanism that is potentially reversible and therefore an interesting therapeutic target. Multiple Endocrine Neoplasia type 1 (MEN1) is the most frequent cause of inherited PanNETs. The aim of this study was to determine promoter methylation profiles in MEN1-related PanNETs. DESIGN AND METHODS: Methylation-specific multiplex ligation-dependent probe amplification was used to assess promoter methylation of 56 tumor suppressor genes in MEN1-related (n=61) and sporadic (n=34) PanNETs...
June 14, 2018: European Journal of Endocrinology
Domenico Albano, Francesco Bertagna, Mattia Bonacina, Rexhep Durmo, Elisabetta Cerudelli, Maria Gazzilli, Maria Beatrice Panarotto, Anna Maria Formenti, Gherando Mazziotti, Andrea Giustina, Raffaele Giubbini
OBJECTIVE: According to the 2015 ATA guidelines, thyroid ablation by iodine-131 (I-131) therapy is absolutely recommended only in patients with high-risk differentiated thyroid cancer (DTC). Often distant metastases are not recognized early and they can stay silent for long time. The aim of our study was to retrospectively analyze the prevalence of metastatic disease before and after I-131 and to evaluate the influence of the new ATA guidelines in the management of DTC. METHODS: We retrospectively analyzed 140 patients showing distant metastases...
June 13, 2018: European Journal of Endocrinology
Walter Miller
Congenital adrenal hyperplasia (CAH) is a group of genetic disorders of adrenal steroidogenesis that impair cortisol synthesis, with compensatory increases in ACTH leading to hyperplastic adrenals. The term 'CAH' is generally used to mean 'steroid 21-hydroxylase deficiency' (21OHD) as 21OHD accounts for about 95% of CAH in most populations; the incidences of the rare forms of CAH vary with ethnicity and geography. These forms of CAH are easily understood on the basis of the biochemistry of steroidogenesis. Defects in the steroidogenic acute regulatory protein, StAR, disrupt all steroidogenesis and are the second-most common form of CAH in Japan and Korea; very rare defects in the cholesterol side-chain cleavage enzyme, P450scc, are clinically indistinguishable from StAR defects...
June 7, 2018: European Journal of Endocrinology
Luca Persani, Tiziana de Filippis, Carla Colombo, Davide Gentilini
The technological advancements in genetics produced a profound impact on the research and diagnostics of non-communicable diseases. The availability of Next Generation Sequencing (NGS) allowed the identification of novel candidate genes but also an in depth modification of the understanding of the architecture of several endocrine diseases. Several different NGS approaches are available allowing the sequencing of several regions of interest or the whole exome or genome (WGS, WES, or targeted NGS), with highly variable costs, potentials and limitations that should be clearly known before designing the experiment...
June 7, 2018: European Journal of Endocrinology
Mamta N Joshi, Benjamin Whitelaw, Paul V Carroll
Hypophysitis is a rare condition characterised by inflammation of the pituitary gland, usually resulting in hypopituitarism and pituitary enlargement. Pituitary inflammation can occur as a primary hypophysitis (most commonly lymphocytic, granulomatous or xanthomatous disease) or as secondary hypophysitis (as a result of systemic diseases, immunotherapy or alternative sella based pathologies). Hypophysitis can be classified using anatomical, histopathological and aetiological criteria. Non-invasive diagnosis of hypophysitis remains elusive, and the use of currently available serum anti-pituitary antibodies are limited by low sensitivity and specificity...
June 7, 2018: European Journal of Endocrinology
Eyun Song, Min Ji Jeon, Hye-Seon Oh, Minkyu Han, Yu-Mi Lee, Tae Yong Kim, Ki-Wook Chung, Won Bae Kim, Young-Kee Shong, Dong Eun Song, Won Gu Kim
OBJECTIVE: Evidence for unfavorable outcomes of each type of aggressive variant papillary thyroid carcinoma (AV-PTC) is not clear because most previous studies are focused on tall cell variant (TCV) and did not control for other major confounding factors contributing to clinical outcomes. DESIGN: Retrospective cohort study. METHODS: This study included 763 patients with classical PTC (cPTC) and 144 with AV-PTC, including TCV, columnar cell variant (CCV), and hobnail variants...
June 6, 2018: European Journal of Endocrinology
Annika M A Berends, Michiel N Kerstens, Janne W Bolt, Thera P Links, Esther Korpershoek, Ronald R de Krijger, Annemiek M E Walenkamp, Walter Noordzij, Boudewijn van Etten, Gursah Kats-Ugurlu, Ah Brouwers, A N A van der Horst-Schrivers
BACKGROUND/AIM: Positron Emission Tomography (PET) with 6-[18F]fluor-L-3,4-dihydroxyphenylalanine (18F-FDOPA) has been shown to be a useful imaging tool with a high sensitivity for the visualization of neuroendocrine tumors (NETs). 18F-FDOPA uptake in tumors other than NETs has been suggested previously, but data on this phenomenon are limited. We therefore studied the non-physiological, false-positive uptake of 18F-FDOPA in a large population of patients with a NET or with a high clinical suspicion of harboring a NET...
June 6, 2018: European Journal of Endocrinology
Jessica Pepe, Cristiana Cipriani, Mario Curione, Federica Biamonte, Luciano Colangelo, Vittoria Danese, Veronica Cecchetti, Chiara Sonato, Federica Ferrone, Mirella Cilli, Salvatore Minisola
OBJECTIVE: Hypercalcemia may induce arrhythmias. There are no data on the prevalence of arrhythmias in primary hyperparathyroidism (PHPT) in daily life. Aim of the study was to investigate both the prevalence of arrhythmias in patients with PHPT compared to controls and the impact of parathyroidectomy, evaluated by 24 hour electrocardiogram (ECG) monitoring. DESIGN: This is a randomized study. METHODS: 26 postmenopausal women with PHPT and 26 controls were enrolled...
June 6, 2018: European Journal of Endocrinology
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