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European Journal of Endocrinology

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https://www.readbyqxmd.com/read/29348113/genetics-in-endocrinology-the-expanding-genetic-horizon-of-primary-aldosteronism
#1
Silvia Monticone, Fabrizio Buffolo, Martina Tetti, Franco Veglio, Barbara Pasini, Paolo Mulatero
Aldosterone is the main mineralocorticoid hormone in humans and plays a key role in maintaining water and electrolyte homeostasis. Primary aldosteronism (PA), characterized by autonomous aldosterone overproduction by the adrenal glands, affects 6% of the general hypertensive population and can be either sporadic or familial. Aldosterone producing adenoma (APA) and bilateral adrenal hyperplasia (BAH) are the two most frequent subtypes of sporadic PA, and 4 forms of familial hyperaldosteronism (FH-I to FH-IV) have been identified...
January 18, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29339530/management-of-endocrine-disease-personalized-medicine-in-the-treatment-of-acromegaly
#2
Leandro Kasuki, Luiz Eduardo Wildemberg, Monica R Gadelha
Acromegaly is associated with high morbidity and elevated mortality when not adequately treated. Surgery is the first-line treatment for most patients as it is the only one that can lead to immediate cure. In patients who are not cured by surgery, treatment is currently based on a trial-and-error approach. First-generation somatostatin receptor ligands (fg-SRL) are initiated for most patients, although approximately 25% of patients present resistance to this drug class. Some biomarkers of treatment outcome are described in the literature, with the aim of categorizing patients into different groups to individualize their treatments using a personalized approach...
January 16, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29339529/management-of-endocrine-disease-atypical-femoral-fractures-risks-and-benefits-of-long-term-treatment-of-osteoporosis-with-anti-resorptive-therapy
#3
Robert Adler
Modern osteoporosis treatment began in the mid-1990's with the approval of amino-bisphosphonates, anti-resorptive agents that have been shown to decrease osteoporotic fracture risk by about half. In 2005, the first cases of atypical femoral fractures (AFF), occurring in the shaft of the femur, were reported. Since then, more cases have been found, leading to great concern among patients and a dramatic decrease in bisphosphonate prescribing. The pathogenesis and incidence of AFF are reviewed herein. Management and an approach to prevention or early detection of AFF are also provided...
January 16, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29339528/gonadal-function-in-adult-male-patients-with-congenital-adrenal-hyperplasia
#4
Manon Engels, Katharina Gehrmann, Henrik Falhammar, Emma A Webb, Anna Nordenstrom, Fred Sweep, Paul N Span, Antonius Eduard van Herwaarden, Julia Rohayem, Annette Richter-Unruh, Claire Bouvattier, Birgit Koehler, Barbara B Kortmann, Wiebke Arlt, Nel Roeleveld, Nicole Reisch, Nike Stikkelbroeck, Hedi L Claahsen-van der Grinten
CONTEXT: Current knowledge on gonadal function in Congenital Adrenal Hyperplasia (CAH) is mostly limited to single center/country studies enrolling small patient numbers. Overall data indicate that gonadal function can be compromised in men with CAH. OBJECTIVE: To determine gonadal function in men with CAH within the European "dsd-LIFE" cohort. DESIGN: Cross-sectional clinical outcome study, including retrospective data from medical records...
January 16, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29339527/diminished-androgen-and-estrogen-receptors-and-aromatase-levels-in-hypogonadal-diabetic-men-reversal-with-testosterone
#5
Husam Ghanim, Sandeep Dhindsa, Sanaa Abuaysheh, Manav Batra, Nitesh Kuhadiya, Antoine Makdissi, Ajay Chaudhuri, Paresh Dandona
AIMS: One third of males with type 2 diabetes have hypogonadism, characterized by low total and free testosterone concentrations. We hypothesized that this condition is associated with a compensatory increase in the expression of androgen receptors (AR) and that testosterone replacement reverses these changes. We also measured estrogen receptor and aromatase expression. MATERIALS AND METHODS: This is a randomized double-blind placebo controlled trial. 32 hypogonadal and 32 eugonadal men with type 2 diabetes were recruited...
January 16, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29339526/the-diversity-of-gestational-diabetes-a-therapeutic-challenge
#6
Elisabeth Qvigstad
Metformin as the first drug of choice for glucose lowering in gestational diabetes (GDM) is still controversial, despite recent publications reporting similar outcomes in comparison to insulin, both for offspring and mothers. The use of metformin during pregnancy is increasing and several recent guidelines recommend metformin use in GDM pregnancies. Background, current metformin use and unresolved concerns are discussed in the context of the article from Gante et al. (Gante I, Melo L, Dores J, Ruas L & Almeida MDC...
January 16, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29330228/treatment-of-aggressive-pituitary-tumours-and-carcinomas-results-of-a-european-society-of-endocrinology-ese-survey-2016
#7
Ann I McCormack, Olaf Dekkers, Stephan Petersenn, Vera Popovic, Jacqueline Trouillas, Gerald Raverot, Pia Burman
OBJECTIVE: To collect outcome data in a large cohort of patients with aggressive pituitary tumours (APT)/carcinomas (PC), and specifically report effects of temozolomide (TMZ) treatment. DESIGN: Electronic survey to ESE members Dec 2015-Nov 2016. RESULTS: Reports on 165 patients (40 PC, 125 APT) were obtained. Median age at diagnosis was 43 (range 4-79) years. 69% of the tumours were clinically functioning, and the most frequent immunohistochemical subtype were corticotroph tumours (45%)...
January 12, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29330227/earlier-post-operative-hypocortisolemia-may-predict-durable-remission-from-cushing-s-disease
#8
Natasha Ironside, Gregoire Chatain, David Asuzu, Sarah Benzo, Maya Lodish, Susmeeta Sharma, Lynnette Nieman, Constantine Stratakis, Russell Lonser, Prashant Chittiboina
CONTEXT: Achievement of hypocortisolemia following transsphenoidal surgery (TSS) for Cushing's disease (CD) is associated with successful adenoma resection. However, up to one third of these patients recur. OBJECTIVE: We assessed whether delay in reaching post-operative cortisol nadir may delineate those at risk of recurrence for CD following TSS. METHODS: A retrospective review of of 257 patients who received 291 TSS procedures for CD at NIH, between 2003 and 2016...
January 12, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29330226/mitotane-treatment-in-patients-with-metastatic-testicular-leydig-cell-tutor-associated-with-severe-androgen-excess
#9
Vasileios Chortis, Nicholas J Johal, Irina Bancos, Matthew Evans, Kassiani Skordilis, Peter Guest, Michael H Cullen, Emilio Porfiri, Wiebke Arlt
Mitotane (o,p'DDD) is established in the adjuvant and advanced stage treatment of adrenocortical carcinoma and counteracts both tumour growth and tumour-related steroid production. Both the adrenal glands and the gonads are steroidogenically active organs and share a common embryogenic origin. Here we describe the effects of mitotane in two patients with metastatic Leydig cell tumour (LCT) of the testes and associated severe androgen excess (serum testosterone 93 and 88 nmol/l, respectively; male reference range 7-27 nmol/L)...
January 12, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29330225/genetics-in-endocrinology-genetic-counseling-for-congenital-hypogonadotropic-hypogonadism-and-kallmann-syndrome-new-challenges-in-the-era-of-oligogenism-and-next-generation-sequencing
#10
Luigi Maione, Andrew A Dwyer, Bruno Francou, Anne Guiochon-Mantel, Nadine Binart, Jerome Bouligand, Jacques Young
Congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS) are rare, related diseases that prevent normal pubertal development and cause infertility in affected men and women. However, the infertility carries a good prognosis as increasing numbers of patients with CHH/KS are now able to have children through medically assisted procreation. These are genetic diseases that can be transmitted to patients' offspring. Importantly patients and their families should be informed of this risk and given genetic counseling...
January 12, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29263154/transsphenoidal-surgery-for-pituitary-tumours-frequency-and-predictors-of-delayed-hyponatraemia-and-their-relationship-to-early-readmission
#11
Jesper Krogh, Caroline Kistorp, Bahram Jafar-Mohammadi, Aparna Pal, Simon Cudlip, Ashley B Grossman
Objective A major cause of readmission after transsphenoidal surgery (TSS) is delayed hyponatraemia. The purpose of this study was to identify predictors of 30-day readmissions for hyponatraemia and predictors of hyponatraemia one week post-surgery. Design A retrospective cohort study including patients who had TSS performed. Method The risk of readmission for hyponatraemia was assessed in consecutive patients between January 2008 and March 2016. The risk of hyponatraemia one week post-surgery was assessed in patients admitted for TSS between July 2011 and March 2016...
December 20, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29259039/both-invasiveness-and-proliferation-criteria-predict-recurrence-of-non-functioning-pituitary-macroadenomas-after-surgery-a-retrospective-analysis-of-a-monocentric-cohort-of-120-patients
#12
Julie Lelotte, Anne Jouret-Mourin, Edward Fomekong, Alex Michotte, Christian Raftopoulos, Dominique Maiter
INTRODUCTION: Additional robust criteria to predict early postoperative recurrence of non-functioning pituitary macroadenomas (NFMAs) are needed. Recently, a new classification of pituitary tumours has been proposed which is based on both radiological and histological criteria and allows the grading into 5 groups of different potential aggressiveness. The aim of this study was to use this classification to further characterize predictive factors of recurrence in an independent series of NFMA...
December 19, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29259038/one-hour-glucose-value-as-a-long-term-predictor-of-cardiovascular-morbidity-and-mortality-the-malm%C3%A3-preventive-project
#13
Mette Lundgren Nielsen, Manan Pareek, Margrét Leósdóttir, Karl-Fredrik Eriksson, Peter Nilsson, Michael Hecht Olsen
OBJECTIVE: To examine the predictive capability of a 1-hour versus 2-hour postload glucose value for cardiovascular morbidity and mortality. DESIGN: Prospective, population-based cohort study (Malmö Preventive Project) with subject inclusion 1974-1992. METHODS: 4934 men without known diabetes and cardiovascular disease, who had blood glucose (BG) measured at 0, 20, 40, 60, 90 and 120 min during an OGTT (30g glucose per m2 body surface area), were followed for 27 years...
December 19, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29259037/gene-expression-profiling-of-fast-and-slow-growing-gonadotroph-non-functioning-pituitary-adenomas
#14
Camilla Maria Falch, Arvind Y M Sundaram, Kristin Astrid Øystese, Kjersti Ringvoll Normann, Tove Lekva, Ivars Silamikelis, Alexander Kirkeby Eieland, Marianne Skovsager Andersen, Jens Bollerslev, Nicoleta Cristina Olarescu
Objective Reliable biomarkers associated with aggressiveness of non-functioning gonadotroph adenomas (GAs) are lacking. As the growth of tumor remnants is highly variable, molecular markers for growth potential prediction are necessary. We hypothesized that fast- and slow - growing GAs present different gene expression profiles and reliable biomarkers for tumor growth potential could be identified, focusing on the specific role of epithelial-mesenchymal transition (EMT). Design and methods Eight GAs selected for RNA sequencing were equally divided into fast- and slow- growing group by the tumor volume doubling time (TVDT) median (27...
December 19, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29254931/psychosocial-development-in-survivors-of-childhood-differentiated-thyroid-carcinoma-a-cross-sectional-study
#15
Marloes Nies, Bernadette L Dekker, Esther Sulkers, Gea A Huizinga, Ms Klein Hesselink, Heleen Maurice-Stam, Martha A Grootenhuis, Ah Brouwers, Johannes Gm Burgerhof, Eveline W C M van Dam, Bas Havekes, Marry M van den Heuvel-Eibrink, E P Corssmit, Leontien C Kremer, Romana Netea-Maier, Heleen H J van der Pal, Robin P Peeters, JThM Plukker, Cecile Ronckers, Hanneke Margo van Santen, A N A van der Horst-Schrivers, Wim J E Tissing, Gianni Bocca, Thera P Links
Objective The impact of childhood differentiated thyroid carcinoma (DTC) on psychosocial development has not yet been studied. The aim of this study was to evaluate the achievement of psychosocial developmental milestones in long-term survivors of childhood DTC. Design and Methods Survivors of childhood DTC diagnosed between 1970 and 2013 were included. Reasons for exclusion were age <18 or >35 years at follow-up, a follow-up period <5 years, or diagnosis with DTC as a second malignant neoplasm. Survivors gathered peer controls of similar age and sex (n = 30)...
December 18, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29237697/triple-a-syndrome-a-wide-spectrum-of-adrenal-dysfunction
#16
Florence Roucher-Boulez, Aude Brac de la Perrière, Aude Jacquez, Delphine Chau, Laurence Guignat, Christophe Vial, Yves Morel, Marc Nicolino, Gerald Raverot, Michel Pugeat
Objective: Triple-A or Allgrove syndrome is an autosomal recessive disorder due to mutations in the AAAS gene which encodes a nucleoporin named ALADIN. It is characterized by a classical clinical triad: Alacrima, Achalasia and Adrenal Insufficiency, the canonic symptoms that are associated with progressive peripheral neuropathy. Only a few cohorts have been reported. The objective of the present study was to characterize the various spectra of adrenal function in Triple-A patients. Methods: A retrospective clinical and biological monitoring of 14 patients (10 families) was done in a single multidisciplinary French center...
December 13, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29208737/genetic-influence-on-the-associations-between-igf-i-and-glucose-metabolism-in-a-cohort-of-elderly-twins
#17
Rikke Beck Jensen, Ajay Thankamony, Klaus K Holst, Joseph A M J L Janssen, Anders Juul, David P Dunger, Pernille Poulsen, Thomas Scheike
OBJECTIVE: IGF-I may be a marker of later metabolic and cardiovascular disease. The interactions between IGF-I and glucose metabolism are multifactorial and there is potential confounding from several secondary effects. In this study we examined the interaction between IGF-I and glucose metabolism in a large cohort of clinically well-characterised elderly twins. DESIGN: A total of 303 twin pairs of the same gender (606 twins) were included in the study; 125 monozygotic and 178 dizygotic twin pairs...
December 5, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29187512/familial-multinodular-goiter-and-sertoli-leydig-cell-tumors-associated-with-a-large-intragenic-in-frame-dicer1-deletion
#18
Maria Apellaniz-Ruiz, Leanne de Kock, Nelly Sabbaghian, Federica Guaraldi, Lucia Ghizzoni, Guglielmo Beccuti, William Foulkes
OBJECTIVE: Familial multinodular goiter (MNG), with or without ovarian Sertoli-Leydig cell tumor (SLCT), has been linked to DICER1 syndrome. We aimed to search for the presence of a germline DICER1 mutation in a large family with a remarkable history of MNG and SLCT, and to further explore the relevance of the identified mutation. DESIGN AND METHODS: Sanger sequencing, Fluidigm access array and multiplex ligation-dependent probe amplification (MLPA) techniques were used to screen for DICER1 mutations in germline DNA from 16 family members...
November 29, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29187511/pregnancy-outcomes-are-not-altered-by-variation-in-thyroid-function-within-the-normal-range-in-women-free-of-thyroid-disease
#19
Flora Veltri, Pierre Kleynen, Lidia Grabczan, Alexandra Salajan, Serge Rozenberg, Thierry Pepersack, Kris Gustave Poppe
OBJECTIVE: In the recently revised guidelines on the management of thyroid dysfunction during pregnancy, treatment with thyroid hormone (LT4) is not recommended in women without thyroid autoimmunity (TAI) and TSH levels in the range 2.5-4.0 mIU/L, and in a recent study in that particular group of pregnant women, more complications were observed when a treatment with LT4 was given. The objective of the study was therefore to investigate whether variation in thyroid function within the normal (non-pregnant) range in women free of thyroid disease was associated with altered pregnancy outcomes? DESIGN: Cross-sectional data analysis of 1321 pregnant women nested within an ongoing prospective collection of pregnant women's data in a single centre in Brussels, Belgium...
November 29, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29187510/ercc1-as-predictive-biomarker-to-platinum-based-chemotherapy-in-adrenocortical-carcinomas
#20
Valeria Laufs, Barbara Altieri, Silviu Sbiera, Stefan Kircher, Sonja Steinhauer, Felix Beuschlein, Marcus Quinkler, Holger S Willenberg, Andreas Rosenwald, Martin Fassnacht, Cristina L Ronchi
OBJECTIVE: Platinum-based chemotherapy (PBC) is the most effective cytotoxic treatment for advanced adrenocortical carcinoma (ACC). Excision repair cross complementing group 1 (ERCC1) plays a critical role in the repair of platinum-induced DNA damage. Two studies investigating the role of ERCC1 immunostaining as a predictive marker for the response to PBC in ACC had reported conflicting results. Both studies used the ERCC1-antibody clone 8F1 that later turned out to be not specific. The aim of this study was to evaluate the predictive role of ERCC1 with the new specific antibody in a larger series of ACC...
November 29, 2017: European Journal of Endocrinology
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