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European Journal of Endocrinology

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https://www.readbyqxmd.com/read/27884859/isolated-gnrh-deficiency-genotypic-and-phenotypic-characteristics-of-the-genetically-heterogeneous-greek-population
#1
Maria I Stamou, Petros Varnavas, Machi Kentrou, Fotini Adamidou, Antonis Voutetakis, Jenny Jing, Lacey Plummer, Vasiliki Koika, Neoklis A Georgopoulos
OBJECTIVE: Isolated GnRH Deficiency (IGD) is a rare heritable disorder characterized by phenotypic and genetic heterogeneity. The genetic complexity of IGD has been surfaced by analyzing clinically complex cases, structural genetic variation as well as endogamous familial cases and isolated populations, revealing an enrichment for particular genes/ pathways that reflects the homogeneous genetic background of such populations. DESIGN AND METHODS: We analyzed a cohort of 81 Greek IGD patients by performing detailed phenotyping, followed by Sanger Sequencing of 14 causative IGD genes...
November 24, 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27881458/dosage-of-estradiol-bone-and-body-composition-in-turner-syndrome-a-5-year-randomized-controlled-clinical-trial
#2
Line Cleemann, Kirsten Holm, Hanne Kobbernagel, Bent Kristensen, Sven Oluf Skouby, Andreas Emil Kryger Jensen, Claus Hojbjerg Gravholt
OBJECTIVE: Reduced bone mineral density (BMD) is seen in Turner syndrome (TS) with an increased risk of fractures, and body composition is characterized by increased body fat and decreased lean body mass. To evaluate the effect of two different doses of oral 17ß-estradiol in young TS women on bone mineral density (BMD), biochemical markers of bone turnover, and body composition with the hypothesis of a positive effect of the higher dose. DESIGN: A double-blind 5-year randomized controlled clinical trial...
November 23, 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27879326/effects-of-levothyroxine-treatment-on-pregnancy-outcomes-in-pregnant-women-with-autoimmune-thyroid-disease
#3
Sima Nazarpour, Fahimeh Ramezani Tehrani, Masoumeh Simbar, Maryam Tohidi, Hamid Alavi Majd, Fereidoun Azizi
BACKGROUND: Despite some studies indicating that thyroid antibody positivity during pregnancy has been associated with adverse pregnancy outcomes, evidence regarding the effects of levothyroxine (LT4) treatment of euthyroid/subclinical hypothyroid pregnant women with autoimmune thyroid disease on pregnancy outcome is limited. We aimed to assess whether pregnant women with autoimmune thyroid disease, but without overt thyroid dysfunction are affected by higher rates of adverse pregnancy outcomes...
November 22, 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27879325/cushing-syndrome-in-a-child-due-to-pro-opiomelanocortin-pomc-secretion-from-a-yolk-sac-tumor
#4
Evelien Gevers, Suzanne Meredith, Pratik Shah, John Torpiano, Catherine Peters, Neil Sebire, Olga Slater, Anne White, Mehul Datani
CONTEXT: Pituitary microadenomas and adrenal tumours are the most common causes for endogenous Cushing syndrome (CS) in children. CASE DESCRIPTION: We describe a two-year old girl with Cushing syndrome due to ectopic pro-opiomelanocortin (POMC) production from an abdominal yolk sac tumor. Cortisol concentrations were elevated but adrenocorticotropic hormone (ACTH) concentrations were equivocal. The use of antibodies specifically detecting ACTH precursors revealed that plasma ACTH precursors were elevated...
November 22, 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27810905/management-of-endocrine-disease-regenerative-therapies-in-autoimmune-addison-s-disease-aad
#5
Earn Hui Gan, Simon Hs Pearce
The treatment for autoimmune Addison's disease (AAD) has remained virtually unchanged in the last 60 years. Most patients have symptoms that are relatively well controlled with exogenous steroid replacement but there may be persistent symptoms, recurrent adrenal crisis and poor quality of life, despite good compliance with optimal current treatments. Treatment with conventional exogenous steroid therapy is also associated with premature mortality, increased cardiovascular risk and complications related to excessive steroid replacement...
November 3, 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27803030/growth-and-growth-hormone-therapy-in-short-children-born-preterm
#6
Margaret Boguszewski, Adriane de Andre Cardoso-Demartini
Approximately 15 million babies are born preterm across the world every year, with less than 37 completed weeks of gestation. Survival rates increased during the last decades with the improvement of neonatal care. With premature birth, babies are deprived of the intense intrauterine growth phase and postnatal growth failure might occur. Some children born prematurely will remain short at later ages and adult life. The risk of short stature increases if the child is also born small for gestational age. In this review, the effects of being born preterm on childhood growth and adult height and the hormonal abnormalities possible associated with growth restriction are discussed, followed by a review of current information on growth hormone treatment for those who remain with short stature during infancy and childhood...
November 1, 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27780830/can-we-predict-relapse-in-graves-disease-results-from-a-systematic-review-and-meta-analysis
#7
Tristan Struja, Hannah Fehlberg, Alexander Kutz, Larissa Guebelin, Christian Degen, Beat Muller, Philipp Schuetz
BACKGROUND: Identification of pre-treatment risk factors predicting relapse in patients with hyperthyroidism of Graves' disease after stopping anti-thyroid drugs [ATD] is decisive to guide therapeutic options. PURPOSE: We performed a systematic search and meta-analysis to study predictors for relapse after stopping ATD in patients with Graves' disease. METHODS: Based on a pre-specified protocol, we searched PubMed, EMBASE and Cochrane in July 2015 for case-control, controlled, and randomized-controlled trials reporting risk factors for relapse after stopping ATD...
October 25, 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27777261/heart-rate-acceleration-with-glp-1-receptor-agonists-in-type-2-diabetes-patients-an-acute-and-12-week-randomised-double-blind-placebo-controlled-trial
#8
Mark M Smits, Lennart Tonneijck, Marcel H A Muskiet, Trynke Hoekstra, Mhh Kramer, Michaela Diamant, Daniël H van Raalte
OBJECTIVE: To examine mechanisms underlying resting heart rate (RHR) increments of GLP-1 receptor agonists in type 2 diabetes patients. DESIGN: Acute and 12-week randomised placebo-controlled, double-blind, single-centre parallel-group trial. METHODS: 57 type 2 diabetes patients (mean±SD age 62.8±6.9 years; BMI 31.8±4.1 kg/m2; HbA1c 7.3±0.6%), treated with metformin and/or sulfonylureas, were included between July 2013 and August 2015...
October 24, 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27770012/life-expectancy-in-patients-with-pituitary-adenoma-receiving-growth-hormone-replacement
#9
Daniel S Olsson, Penelope Trimpou, Tobias Hallén, Ing-Liss Bryngelsson, Eva Andersson, Thomas Skoglund, Bengt-Åke Bengtsson, Gudmundur Johannsson, Anna G Nilsson
Hypopituitarism has been associated with an increased mortality, which may be due to untreated growth hormone (GH) deficiency but also to the various underlying disorders. We therefore analysed mortality in patients with only one underlying disorder, non-functioning pituitary adenoma (NFPA), with and without GH replacement therapy (GHRT). Patients with NFPA in the western region of Sweden, 1997-2011, were identified through the National Patient Registry and cross-referenced with several National Health Registries...
October 21, 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27760792/elevated-tsh-in-adults-treated-for-hypothyroidism-is-associated-with-increased-mortality
#10
Amit Akirov, Hannah Gimbel, Alon Grossman, Tzipora Shochat, Ilan Shimon
CONTEXT: Numerous studies investigated the link between hypothyroidism and mortality, but a definite conclusion is hard to reach as these were limited by a number of factors, including age of participants, comorbidities, and single measurement of thyroid function. OBJECTIVE: Evaluate association between TSH and fT4 levels and mortality in patients with levothyroxine-treated hypothyroidism. DESIGN AND SETTING: Observational data of hospitalized patients (2011-2014)...
October 19, 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27760791/tert-promoter-mutations-a-genetic-signature-of-benign-and-malignant-thyroid-tumours-occurring-in-the-context-of-tinea-capitis-irradiation
#11
Paula Boaventura, Rui Batista, Ana Pestana, Marta Reis, Adélia Mendes, Catarina Eloy, Manuel Sobrinho-Simoes, Paula Soares
Objective - The aim of this study is to evaluate the frequency and molecular characteristics of TERTp mutations in thyroid adenomas and carcinomas occurring in the low dose radiation exposure tinea capitis setting. Design and methods - Twenty seven patients with 34 well differentiated thyroid carcinomas and 28 patients with 29 follicular adenomas diagnosed in a Portuguese tinea capitis cohort of 1375 patients, were studied. Blood samples were obtained from all the patients. Screening for TERTp mutations was performed by PCR amplification followed by Sanger sequencing...
October 19, 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27737902/incidence-of-cushing-s-syndrome-in-patients-with-significant-hypercortisoluria
#12
Dania Hirsch, Gloria Tsvetov, Yossi Manisterski, Nirit Aviran-Barak, Varda Nadler, Sandra Alboim, Vered Kopel
OBJECTIVE: To investigate the incidence of Cushing's syndrome (CS) in patients with significant hypercortisoluria and the performance of urinary free cortisol (UFC) screening. DESIGN: Retrospective file review. METHODS: The computerized database of a publicly funded health maintenance organization (HMO) in Israel was searched for all patients who underwent 24-hour UFC testing in 2005-2014 with a result of more than twice the upper limit of normal (ULN)...
October 13, 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27707768/marrow-adipose-tissue-spectrum-in-obesity-and-type-2-diabetes-mellitus
#13
Iana M de Araujo, Carlos E G Salmon, Andressa K Nahas, Marcello H Nogueira-Barbosa, Jorge Elias Junior, Francisco Ja de Paula
OBJECTIVE: To assess the association of bone mass and marrow adipose tissue (MAT) with other fat depots, insulin resistance, bone remodeling markers, adipokines and glucose control in type 2 diabetes and obesity. DESIGN AND METHODS: Cross-sectional study; comprised 24 controls (C), 26 obese (O) and 28 type 2 diabetes. Dual-energy X-ray absorptiometry was used to determine bone mineral density (BMD). Blood samples were collected for biochemical measurements. 1H Magnetic resonance spectroscopy was used to assess MAT in the L3 vertebra and abdominal magnetic resonance imaging was used to assess intrahepatic lipids, visceral (VAT) and subcutaneous adipose tissue...
October 5, 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27707767/determinants-of-hypomagnesemia-in-patients-with-type-2-diabetes-mellitus
#14
Steef Kurstjens, Jeroen De Baaij, Hacene Bouras, René Bindels, Cees J Tack, Joost Hoenderop
Background Hypomagnesemia (plasma magnesium (Mg2+) concentration <0.7 mmol/L) has been described in patients with type 2 diabetes. Polypharmacy is inevitable when treating a complex disease such as type 2 diabetes and could explain disturbances in the plasma Mg2+ concentration. In this study, we aimed to establish the extent of hypomagnesemia in a cohort of type 2 diabetes patients and to identify determinants of plasma Mg2+ levels. Methods Patient data and samples of 395 type 2 diabetes patients were investigated...
October 5, 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27697972/acute-cardiovascular-events-and-all-cause-mortality-in-patients-with-hyperthyroidism-population-based-cohort-study
#15
Olaf M Dekkers, Erzsébet Erzsébet Horváth-Puhó, Suzanne C Cannegieter, Jan Vandenbroucke, Henrik Toft Sørensen, Jens Otto L Jorgensen
Objective Several studies have shown an increased risk for cardiovascular disease (CVD) in hyperthyroidism, but most studies have been too small to address the effect of hyperthyroidism on individual cardiovascular endpoints. Our main was to assess the association between hyperthyroidism, acute cardiovascular events, and mortality. Design Nationwide population based cohort study. Data were obtained from the Danish Civil Registration System and the Danish National Patient Registry, which covers all Danish hospitals...
October 3, 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27651465/validating-genetic-markers-of-response-to-recombinant-human-growth-hormone-r-hgh-in-children-with-growth-hormone-deficiency-ghd-and-turner-syndrome-ts-the-predict-validation-study
#16
Adam Stevens, Philip George Murray, Jerome Wojcik, John Raelson, Ekaterina Koledova, Pierre Chatelain, Peter E Clayton
OBJECTIVE: Single nucleotide polymorphisms (SNPs) associated with the response to r-hGH have previously been identified in GHD and TS children in the PREDICT long-term follow-up (LTFU) study (NCT00699855). Here we describe the PREDICT validation (VAL) study (NCT01419249) which aimed to confirm these genetic associations. DESIGN AND METHODS: Children with GHD (n=293) or TS (n=132) were recruited retrospectively from 29 sites in nine countries. All children had completed one year of r-hGH therapy...
September 20, 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27647872/early-detection-of-biochemically-occult-autonomous-thyroid-nodules
#17
Nunzia Brusca, Camilla Virili, Miriam Cellini, Silvia Capriello, Lucilla Gargano, Rita Salvatori, Marco Centanni, Maria Giulia Santaguida
OBJECTIVE: Autonomously functioning thyroid areas may be associated with subclinical or overt hyperthyroidism, but may exist even in the presence of normal TSH. This study was aimed at comparing the rate of autonomously functioning areas and their cardiac sequelae in patients with nodular goitre studied with the usual and a novel approach. DESIGN AND METHODS: A total of 490 adult outpatients with thyroid nodular goitre, living in a mild iodine-deficient area, were selected in our Referral Center for thyroid diseases from 2009 to 2014 on the basis of a suspicion of thyroid functional autonomy...
September 19, 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27634944/the-androgen-receptor-gene-cag-repeat-in-relation-to-4-year-changes-in-androgen-sensitive-endpoints-in-community-dwelling-older-european-men
#18
Robert J A H Eendebak, Ilpo Huhtaniemi, Stephen R Pye, Tomas Brian Ahern, Terence W O'Neill, Gyorgy Bartfai, Felipe F Casanueva, Mario Maggi, Gianni Forti, Robert D Alston, Aleksander Giwercman, Thang S Han, Krzysztof Kula, Mike Lean, Margus Punab, Neil Pendleton, Brian Keevil, Dirk Vanderschueren, Martin Kenneth Rutter, Gindo Tampubolon, Royston Goodacre, Fredrick C W Wu
CONTEXT: The Androgen Receptor (AR) gene exon 1 CAG repeat length has been proposed to be a determinant of between-individual variations in androgen action in target tissues, which might regulate phenotypic differences of human ageing. However, findings on its phenotypic effects are inconclusive. OBJECTIVE: To assess whether the AR CAG repeat length is associated with longitudinal changes in endpoints which are influenced by testosterone (T) levels in middle-aged and elderly European men...
September 15, 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27634943/bone-mineral-density-is-increased-after-a-16-week-resistance-training-intervention-in-elderly-women-with-decreased-muscle-strength
#19
Ville Huovinen, Kaisa K Ivaska, Riku Kiviranta, Marco Bucci, Heta Lipponen, Samuel Sandboge, Juho Raiko, Johan Eriksson, Riitta Parkkola, Patricia Iozzo, Pirjo Nuutila
OBJECTIVE: Non-pharmacological interventions are important in reducing risk for osteoporotic fractures. We investigated the effects of a 16-week individualized resistance training intervention on bone mineral density (BMD), bone turnover markers and 10-year relative risk (RR) for osteoporotic fracture. DESIGN: Interventional study with a follow-up Methods: 37 elderly women (mean age 71.9±3.1 years) with decreased muscle strength participated in the resistance training intervention three times per week with 60 minutes per session for 16 weeks under the supervision of a licensed physiotherapist...
September 15, 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27634942/rapid-sequence-mri-for-long-term-surveillance-for-paraganglioma-and-phaeochromocytoma-in-patients-with-succinate-dehydrogenase-sdhx-mutations
#20
Eleni Daniel, Robert Jones, Matthew Bull, John Newell-Price
INTRODUCTION: Patients with SDHx mutations need long-term radiological surveillance for the development of paragangliomas and phaeochromocytomas, but no longitudinal data exist. We assessed the performance of rapid-sequence non-contrast magnetic resonance imaging (MRI) in the long-term monitoring of patients with SDHx mutations. METHODS: Retrospective study between 2005-2015 at a University Hospital and regional endocrine genetics referral center. Clinical and imaging data of forty-seven patients with SDHx mutations [SDHB (36), SDHC (6), SDHD (5)] who had surveillance for detection of paragangliomas by rapid-sequence non-contrast MRI (base of skull to pubic symphysis) were collected...
September 15, 2016: European Journal of Endocrinology
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