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European Journal of Endocrinology

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https://www.readbyqxmd.com/read/28924001/diagnosis-of-endocrine-disease-sdhx-mutations-beyond-pheochromocytomas-and-paragangliomas
#1
Massimo Mannelli, Letizia Canu, Tonino Ercolino, Elena Rapizzi, Serena Martinelli, Gabriele Parenti, Giuseppina De Filpo, Gabriella Nesi
Mutations in one of the five genes encoding the succinate dehydrogenase (SDHx) or mitochondrial complex II cause the corresponding family syndromes characterized by the occurrence of pheochromocytomas (PHEO) and paragangliomas (PGL). Recently, other solid growths, such as gastrointestinal stromal tumors (GISTs), renal cell carcinomas (RCCs) and pituitary adenomas (PAs) have been associated with these syndromes. In the absence of prospective studies assessing their frequency, at present, their occurrence seems too infrequent to suggest systematic screening for SDHx mutation carriers...
September 18, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28916564/modulation-of-the-gut-microbiome-a-systematic-review-of-the-effect-of-bariatric-surgery
#2
Yan Guo, Zhi-Ping Huang, Chao-Qian Liu, Lin Qi, Yuan Sheng, Da-Jin Zou
OBJECTIVE: Bariatric surgery is recommended for patients with obesity and type 2 diabetes. Recent evidence suggested a strong connection between gut microbiota and bariatric surgery. DESIGN: Systematic review. METHODS: The PubMed and OVID Embase were used and articles concerning bariatric surgery and gut microbiota were screened. The main outcome measures were alterations of gut microbiota after bariatric surgery and correlations between gut microbiota and host metabolism...
September 15, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28904009/diagnosis-of-endocrine-disease-18-oxocortisol-and-18-hydroxycortisol-is-there-clinical-utility-of-these-steroids
#3
Jacques Lenders, Tracy A Williams, Martin Reincke, Celso E Gomez-Sanchez
Since the early nineteen eighties 18-hydroxycortisol and 18-oxocortisol have attracted attention when it was shown that the urinary excretion of these hybrid steroids was increased in primary aldosteronism. The development and more widespread use of specific assays has improved the understanding of their role in the (patho)physiology of adrenal disorders. The adrenal site of synthesis is not fully understood although it is clear that for the synthesis of 18-hydroxycortisol and 18-oxocortisol the action of both aldosterone synthase (zona glomerulosa) and 17α-hydroxylase (zona fasciculata) is required with cortisol as main substrate...
September 13, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28904008/mechanisms-in-endocrinology-clinical-and-pharmacogenetic-aspects-of-the-growth-hormone-receptor-polymorphism
#4
Cesar Luiz Boguszewski, Edna Jesus Litenski Barbosa, Per-Arne Svensson, Gudmundur Johannsson, Camilla A M Glad
Pharmacogenetics aims to maximize the beneficial effects of a medical therapy by identifying genetic finger prints from responders and non-responders and, thereby, improving safety and efficacy profile of the drug. Most subjects who are deficient in growth hormone (GHD) are candidates for recombinant human GH (rhGH) therapy. To date, it is well established that even after adjustments for several clinical variables, such as age, gender, body composition and the age at onset of the GHD, response to rhGH treatment is highly variable among individuals, part of which is believed to be due to genetic factors within the GH system...
September 13, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28890442/marked-geographic-patterns-in-the-incidence-of-idiopathic-central-precocious-puberty-a-nationwide-study-in-france
#5
Joëlle Le Moal, Annabel Rigou, Alain Le Tertre, Perrine Decrouy-Chanel, Juliane Leger, Jean-Claude Carel
OBJECTIVES: Precocious puberty seems to be increasing but epidemiological data are scarce. Our objective was to improve the epidemiologic knowledge on this disease, in the context of a suspected role of endocrine disruptor chemicals exposure. We analyzed the national incidence and spatial trends of idiopathic central precocious puberty in France in 2011-2013 in a cross-sectional descriptive study. DESIGN: We used an indicator based on treatment reimbursements recorded in the national insurance database, in boys less than 10 years and girls less than nine years old...
September 10, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28882981/characteristics-of-a-nationwide-cohort-of-patients-presenting-with-isolated-hypogonadotropic-hypogonadism-ihh
#6
Marco Bonomi, Valeria Vezzoli, Csilla Gabriella Krausz, Fabiana Guizzardi, Silvia Vezzani, Manuela Simoni, Ivan Bassi, Paolo Duminuco, Natascia Di Iorgi, Claudia Giavoli, Alessandro Pizzoccaro, Gianni Russo, Mirella Moro, Letizia Maria Fatti, Alberto Ferlin, Laura Mazzanti, Maria Chiara Zatelli, Salvatore Cannavò, Andrea M Isidori, Angela I Pincelli, Flavia Prodam, Antonio Mancini, Paolo Limone, Maria Laura Tanda, Rossella Gaudino, Mariacarolina Salerno, Francesca Pregnolato, Mohammad Maghnie, Mario Maggi, Luca Persani
OBJECTIVE: IHH is a rare disorder with pubertal delay, normal (normoosmic-IHH, nIHH) or defective sense of smell (Kallmann syndrome, KS). Other reproductive and non-reproductive anomalies might be present altough information on their frequency are scanty, particularly according to the age of presentation. DESIGN: Observational cohort study carried out between January 2008-June 2016 within a national network of academic or general hospitals Methods: We performed a detailed phenotyping of 503 IHH patients with: 1) manifestations of hypogonadism with low sex steroid hormone and low/normal gonadotropins; 2) absence of expansive hypothalamic/pituitary lesions or multiple pituitary hormone defects...
September 7, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28882980/the-metabolic-syndrome-and-its-components-in-178-patients-treated-for-craniopharyngioma-after-16-years-of-follow-up
#7
Mark Wijnen, Daniel S Olsson, Marry M van den Heuvel-Eibrink, Casper Hammarstrand, Joseph A M J L Janssen, A J Van der Lely, Gudmundur Johannsson, Sebastian J C M M Neggers
OBJECTIVE: Patients with craniopharyngioma are at increased risk for cardio- and cerebrovascular mortality. The metabolic syndrome (MetS) is an important cardiometabolic risk factor, but barely studied in patients with craniopharyngioma. We aimed to investigate the prevalence of and risk factors for the MetS and its components in patients with craniopharyngioma. DESIGN: Cross-sectional study with retrospective data. METHODS: We studied the prevalence of and risk factors for the MetS and its components in 110 Dutch (median age 47 years, range 18-92) and 68 Swedish (median age 50 years, range 20-81) patients with craniopharyngioma with ≥3 years of follow-up (90 females [51%]; 83 patients with childhood-onset craniopharyngioma [47%]; median follow-up after craniopharyngioma diagnosis 16 years [range 3-62])...
September 7, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28877925/the-impact-of-vitamin-d-status-on-hungry-bone-syndrome-after-surgery-for-primary-hyperparathyroidism
#8
Reto Martin Kaderli, Philipp Riss, Daniela Dunkler, Peter Pietschmann, Andreas Selberherr, Christian Scheuba, Bruno Niederle
OBJECTIVE: Prolonged hypocalcaemia but normal intact parathyroid hormone (iPTH) levels after surgery for primary hyperparathyroidism (PHPT) are referred to as "hungry bone syndrome" (HBS). The aim was to evaluate preoperative risk factors for HBS with a focus on the impact of 25-hydroxyvitamin D (25(OH)D) deficiency. DESIGN: Patients having undergone initial successful surgery for sporadic PHPT within 6 years were considered for retrospective analysis. METHODS: A total of 385 patients were evaluated, of whom 33 (8...
September 6, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28870985/whole-exome-sequencing-gives-additional-benefits-compared-to-candidate-gene-sequencing-in-the-molecular-diagnosis-of-children-with-growth-hormone-or-igf-1-insensitivity
#9
Lucy Shapiro, Sumana Chatterjee, Dina Ramadan, Kate M Davies, Martin O Savage, Louise A Metherell, Helen L Storr
GH insensitivity (GHI) is characterised by short stature, IGF-1 deficiency and normal/elevated serum GH. IGF-1 insensitivity results in pre- and post-natal growth failure with normal/high IGF-1 levels. The prevalence of genetic defects is unknown. OBJECTIVE: To identify the underlying genetic diagnoses in a paediatric cohort with GH or IGF-1 insensitivity using candidate gene (CGS) and whole exome sequencing (WES) and assess factors associated with the discovery of a genetic defect. METHODS: We undertook a prospective study of 132 patients with short stature and suspected GH or IGF-1 insensitivity referred to our centre for genetic analysis...
September 4, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28870984/optimal-follow-up-strategies-for-adrenal-incidentalomas-reappraisal-of-the-2016-ese-ensat-guidelines-in-real-clinical-practice
#10
A Ram Hong, Jung Hee Kim, Kyeong Seon Park, Kyong Young Kim, Ji Hyun Lee, Sung Hye Kong, Seo Young Lee, Chan Soo Shin, Sang Wan Kim, Seong-Yeon Kim
OBJECTIVE: Recently, the European Society of Endocrinology (ESE), in collaboration with the European Network for the Study of Adrenal Tumors (ENSAT), asserted that adrenal incidentalomas (AIs) <4 cm and ≤10 Hounsfield units (HU) do not require further follow-up imaging. In order to validate the clinical application of the follow-up strategies suggested by the 2016 ESE-ENSAT guidelines, we explored the clinical characteristics and natural course of AIs in a single center over 13 years...
September 4, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28864536/changes-in-the-clinicopathological-characteristics-and-genetic-alterations-of-follicular-thyroid-cancer
#11
Young Shin Song, Jung Ah Lim, Hye Sook Min, Min Joo Kim, Hoonsung Choi, Sun Wook Cho, Jae Hoon Moon, Ka Hee Yi, Do Joon Park, Bo Youn Cho, Young Joo Park
OBJECTIVE: Changes in the clinicopathological characteristics and genetic alterations of follicular thyroid cancer (FTC) over time have not been reported. Moreover, the prognostic effects of RAS and TERT promoter mutations in FTC have not been clearly elucidated. We investigated changes in the clinicopathological characteristics of patients with FTC over four decades, as well as the clinical significance of genetic mutations of FTC. DESIGN AND METHODS: This retrospective study included 690 patients with FTC who underwent thyroidectomy between 1973 and 2015 at the Seoul National University Hospital...
September 1, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28864535/mechanisms-in-endocrinology-cardiovascular-manifestations-of-primary-hyperparathyroidism-a-narrative-review
#12
Jessica Pepe, Cristiana Cipriani, Chiara Sonato, Orlando Raimo, Federica Biamonte, Salvatore Minisola
Data on cardiovascular disease in primary hyperparathyroidism (PHPT) are controversial; indeed, at present, cardiovascular involvement is not included among the criteria needed for parathyroidectomy. Aim of this narrative review is to analyze the available literature in an effort to better characterize cardiovascular involvement in PHPT. Due to physiological effects of both parathyroid hormone (PTH) and calcium on cardiomyocyte, cardiac conduction system, smooth vascular, endothelial and pancreatic beta cells, a number of data have been published regarding associations between symptomatic and mild PHPT with hypertension, arrhythmias, endothelial dysfunction (an early marker of atherosclerosis), glucose metabolism impairment and metabolic syndrome...
September 1, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28855269/roles-of-increased-glycemic-variability-glp-1-and-glucagon-in-hypoglycaemia-after-roux-en-y-gastric-bypass
#13
George Tharakan, Preeshila Behary, Nicolai Jacob Wewer Albrechtsen, Harvinder Chahal, Julia Kenkre, Alexander D Miras, Ahmed R Ahmed, Jens Juul Holst, Steve R Bloom, Tricia Mei Mei Tan
Objective Roux-en-Y Gastric Bypass (RYGB) surgery is currently the most effective treatment for diabetes and obesity. An increasingly recognized complication of RYGB surgery is postprandial hypoglycemia (PPH). The pathophysiology of PPH remains unclear with multiple mechanisms suggested including nesidioblastosis, altered insulin clearance and increased glucagon-like-1 peptide (GLP-1) secretion. Whilst many PPH patients respond to dietary modification, some have severely disabling symptoms. Multiple treatments have been trialled ranging from acarbose, to both GLP-1 agonists and antagonists, even to reversal of RYGB...
August 30, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28855268/inflammatory-infiltrates-in-parathyroid-tumors
#14
Felix Haglund, Björn Hallström, Inga-Lena Nilsson, Anders HÖÖg, Christofer C Juhlin, Catharina Larsson
Context Inflammatory infiltrates are sometimes present in solid tumors and may be coupled to clinical behavior or etiology. Infectious viruses contribute to tumorigenesis in a significant fraction of human neoplasias. Objective Characterize inflammatory infiltrates and possible viral transcription in primary hyperparathyroidism. Design From the period 2007-2016, a total of 55 parathyroid tumors (51 adenomas and 4 hyperplasias) with prominent inflammatory infiltrates were identified from more than 2000 parathyroid tumors in the pathology archives, and investigated by immunohistochemistry for CD4, CD8, CD20 and CD45 and scored as +0, +1 or +2...
August 30, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28855267/therapy-of-endocrine-disease-t4-t3-combination-therapy-is-there-a-true-effect
#15
Wilmar M Wiersinga
5-10% of hypothyroid patients on T4 replacement have persistent symptoms, despite normal TSH levels. T4+T3 combination therapy provided no better outcomes according to a meta-analysis of 11 randomized clinical trials comparing T4 monotherapy with T4+T3 combination therapy. This review evaluates recent developments in the field of T4+T3 therapy . T4 monotherapy is associated with higher serum FT4 and lower serum FT3 and FT3/FT4 ratio's than in healthy subjects. T4+T3 combination therapy may mimic more closely thyroid function tests of healthy subjects, but it has not been demonstrated that relatively low serum FT3 or FT3/FT4 ratio's are linked to persistent symptoms...
August 30, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28819017/adrenocortical-carcinoma-and-succinate-dehydrogenase-gene-mutations
#16
Tobias Else, Antonio Marcondes Lerario, Jessica Everett, Lori Haymon, Deborah Wham, Michael Mullane, Tremika LeShan Wilson, Irene Rainville, Huma Rana, Andrew J Worth, Nathaniel W Snyder, Ian A Blair, Rana McKay, Kerry Kilbridge, Gary D Hammer, Justine Barletta, Anand Vaiyda
OBJECTIVE: Germline loss-of-function mutations in succinate dehydrogenase (SDHx) genes results in rare tumor syndromes that include pheochromocytoma, paraganglioma, and others. Here we report a case series of patients with adrenocortical carcinoma (ACC) that harbor SDHx germline mutations. PATIENTS AND RESULTS: We report four unrelated patients with ACC and SDHx mutations. All cases presented with Cushing syndrome and large adrenal masses that were confirmed to be ACC on pathology...
August 17, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28819016/a-syndromic-extreme-insulin-resistance-caused-by-biallelic-poc1a-mutations-in-exon-10
#17
Elisa Giorgio, Elisa Rubino, Alessandro Bruselles, Simone Pizzi, Innocenzo Rainero, Sergio Duca, Fabio Sirchia, Barbara Pasini, Marco Tartaglia, Alfredo Brusco
POC1A encodes a protein with a role in centriole assembly and stability, and in ciliogenesis. Biallelic loss of function mutations affecting POC1A cause SOFT syndrome, an ultra-rare condition characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis. Using exome sequencing, we identified a homozygous frameshift mutation (c.1047_1048dupC; p.G337Rfs*25) in a patient presenting with short stature, facial hirsutism, alopecia, dyslipidemia and extreme insulin resistance. The truncating variant affected exon 10, which is retained in only two of the three POC1A mature RNAs, due to alternative processing of the transcript...
August 17, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28819015/adrenal-cushing-s-syndrome-during-pregnancy
#18
Corina Andreescu, Rehmat Ali Alwani, Johannes Hofland, Leendert Looijenga, Wouter de Herder, Leo Hofland, Richard A Feelders
Cushing syndrome (CS) during pregnancy is a rare condition with only a few cases reported in the literature. Misdiagnosis of CS is common because of overlapping features like fatigue, weight gain, striae and emotional changes that can occur during normal pregnancy. Changes in maternal hormones and their binding proteins complicate assessment of glucocorticoid hormone levels during gestation. CS during pregnancy is most frequently due to an adrenal adenoma and to a lesser degree to adrenocorticotropic hormone (ACTH) hypersecretion by a pituitary adenoma...
August 17, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28794160/primary-aldosteronism-as-a-cause-of-secondary-osteoporosis
#19
Antonio Stefano Salcuni, Vincenzo Carnevale, Claudia Battista, Serena Palmieri, Cristina Eller-Vainicher, Vito Guarnieri, Flavia Pugliese, Giuseppe Guglielmi, Gaetano Desina, Salvatore Minisola, Iacopo Chiodini, Alfredo Scillitani
OBJECTIVE: Patients with primary aldosteronism (PA) have a high prevalence of osteoporosis (OP) and fractures (Fx). We evaluated the presence of PA in patients admitted to our metabolic bone disease outpatient clinic. DESIGN: Study conducted on an in- and outpatient basis in a referral Italian endocrinology unit. METHODS: A total of 2632 patients were evaluated. 2310 were excluded because they were taking drugs known to affect bone or mineralocorticoids metabolism, or were diagnosed to have a secondary cause of osteoporosis...
August 8, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28780521/early-growth-hormone-treatment-start-in-childhood-growth-hormone-deficiency-improves-near-adult-height-analysis-from-nordinet-%C3%A2-international-outcome-study
#20
Michel Polak, Joanne C Blair, Primoz Kotnik, Effie Pournara, Birgitte Tønnes Pedersen, Tilman R Rohrer
OBJECTIVE: To investigate the effect of age at growth hormone (GH) treatment start on near adult height (NAH) in children with isolated GH deficiency (GHD). DESIGN: NordiNet(®) International Outcome Study (IOS) (NCT00960128), a non-interventional, multicentre study, evaluates the long-term effectiveness and safety of Norditropin(®) (somatropin) (Novo Nordisk A/S) in the real-life clinical setting. METHODS: Patients (n=172) treated to NAH (height at ≥18 years, or height velocity <2 cm/year at ≥16 [boys] or ≥15 [girls] years) were grouped by age (years) at treatment start (early [girls, <8; boys, <9], intermediate [girls, 8-10; boys, 9-11] or late [girls, >10; boys, >11]) and GHD severity (<3 ng/mL or 3-≤10 ng/mL)...
August 5, 2017: European Journal of Endocrinology
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