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European Journal of Endocrinology

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https://www.readbyqxmd.com/read/28522647/prkar1a-mutation-causing-pituitary-dependent-cushing-disease-in-a-patient-with-carney-complex
#1
Florian W Kiefer, Yvonne Winhofer, Donato Iacovazzo, Marta Korbonits, Stefan Wolfsberger, Engelbert Knosp, Franz Trautinger, Romana Höftberger, Michael Krebs, Anton Luger, Alois Gessl
CONTEXT: Carney complex (CNC) is an autosomal dominant condition caused, in most cases, by an inactivating mutation of the PRKAR1A gene, which encodes for the type 1 alpha regulatory subunit of protein kinase A. CNC is characterized by the occurrence of endocrine overactivity, myxomas and typical skin manifestations. Cushing syndrome due to primary pigmented nodular adrenocortical disease (PPNAD) is the most frequent endocrine disease observed in CNC. CASE DESCRIPTION: Here we describe the first case of a patient with CNC and adrenocorticotropic hormone (ACTH)-dependent Cushing disease due to a pituitary corticotroph adenoma...
May 18, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28522646/mr-spectroscopy-of-hepatic-fat-and-adiponectin-and-leptin-levels-during-testosterone-therapy-in-type-2-diabetes-a-randomized-double-blinded-placebo-controlled-trial
#2
Line Velling Magnussen, Poul Erik Andersen, Anabel Diaz, Jelena Markovic Ostojic, Kurt Højlund, David M Hougaard, Anders Nymark Christensen, Torben Leo Nielsen, Marianne Skovsager Andersen
BACKGROUND: Men with type 2 diabetes mellitus (T2D) often have lowered testosterone levels and an increased risk of cardiovascular disease (CVD). Ectopic fat increases the risk of CVD, whereas subcutaneous gluteofemoral fat protects against CVD and has a beneficial adipokine secreting profile. HYPOTHESIS: Testosterone replacement therapy (TRT) may reduce the content of ectopic fat and improve the adipokine profile in men with T2D. DESIGN AND METHODS: A randomized, double-blinded, placebo-controlled study in 39 men aged 50-70 years with T2D and bioavailable testosterone levels <7...
May 18, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28522645/real-life-gh-dosing-patterns-in-children-with-ghd-ts-or-born-sga-a-report-from-the-nordinet%C3%A2-international-outcome-study
#3
Oliver Blankenstein, Marta Snajderova, Joanne C Blair, Effie Pournara, Birgitte Tønnes Pedersen, Isabelle Oliver Petit
OBJECTIVE: To describe real-life dosing patterns in children with growth hormone deficiency (GHD), born small for gestational age (SGA) or with Turner syndrome (TS) receiving growth hormone (GH) and enrolled in the NordiNet® International Outcome Study (IOS; NCT00960128) between 2006 and 2016. DESIGN: This non-interventional, multicentre study included paediatric patients diagnosed with GHD (isolated [IGHD] or multiple pituitary hormone deficiency [MPHD]), born SGA or with TS and treated according to everyday clinical practice from the Czech Republic (IGHD/MPHD/SGA/TS: n=425/61/316/119), France (n=1404/188/970/206), Germany (n=2603/351/1387/411) and the UK (n=259/60/87/35)...
May 18, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28512134/management-of-endocrine-disease-suicide-risk-in-patients-with-diabetes-a-systematic-review-and-meta-analysis
#4
Bin Wang, Xiaofei An, Xiaohong Shi, Jin-An Zhang
BACKGROUND: Previous studies investigating the risk of suicide in diabetes patients reported controversial findings. We did a systematic review and meta-analysis to comprehensively estimate the risk and incidence rate of suicide in diabetic patients. METHODS: Pubmed, Embase, and PsycINFO were searched for eligible studies. Random-effects meta-analysis was used to calculate the relative risk (RR) and the incidence rate of suicide in diabetes patients. We also calculated the proportion of deaths attributable to suicide among diabetes patients...
May 16, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28512133/quality-of-compounded-hydrocortisone-capsules-used-in-the-treatment-of-children
#5
Uta Neumann, Daniela Burau, Sarah Spielmann, Martin Whitaker, Richard J Ross, Charlotte Kloft, Oliver Blankenstein
Objectives: Due to the lack of paediatric licensed formulations, children are often treated with individualized pharmacy-compounded adult medication. An international web-based survey about the types of medication in children with adrenal insufficiency (AI) revealed that the majority of paediatric physicians are using pharmacy-compounded medication to treat children with AI. Observations of loss of therapy control in children with congenital adrenal hyperplasia with compounded hydrocortisone capsules and regained control after prescribing a new hydrocortisone batch led to this "real world" evaluation of pharmacy-compounded paediatric hydrocortisone capsules...
May 16, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28500244/tamoxifen-reduces-hepatic-vldl-production-and-gh-secretion-in-women-a-possible-mechanism-for-steatosis-development
#6
Vita Birzniece, P Hugh R Barrett, Ken K Y Ho
CONTEXT: Growth hormone (GH) stimulates hepatic synthesis of very-low-density lipoproteins (VLDL), whereas hepatic steatosis develops as a result of GH deficiency. Steatosis is also a complication of tamoxifen treatment, the cause of which is not known. As tamoxifen inhibits the secretion and action of GH, we hypothesize that it induces steatosis by inhibiting hepatic VLDL export. AIM: To investigate whether tamoxifen reduces hepatic VLDL secretion. DESIGN: Eight healthy, normolipidemic women (age 64...
May 12, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28490599/the-phenotype-of-sdhb-germline-mutation-carriers-a-nationwide-study
#7
Nicolasine D Niemeijer, Johannes A Rijken, Karin Eijkelenkamp, A N A van der Horst-Schrivers, Michiel N Kerstens, Carli M Tops, Anouk van Berkel, Henri J Timmers, Henricus P M Kunst, C Rene Leemans, Peter H Bisschop, Koen Ma Dreijerink, Marieke van Dooren, Jean-Pierre Bayley, Alberto M Pereira, Jeroen Jansen, Frederik J Hes, Erik Hensen, E P Corssmit
Objective Succinate dehydrogenase B subunit (SDHB) gene germline mutations predispose to pheochromocytomas, sympathetic paragangliomas, head and neck paragangliomas, and non-paraganglionic tumors (e.g. renal cell carcinoma, gastrointestinal stromal tumor and pituitary neoplasia). The aim of this study was to determine phenotypical characteristics of a large Dutch cohort of SDHB germline mutation carriers and assess differences in clinical phenotypes related to specific SDHB mutations. Design Retrospective descriptive study...
May 10, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28487297/mechanisms-in-endocrinology-towards-the-clinical-translation-of-stem-cell-therapy-for-type-1-diabetes
#8
Daniel Espes, Joey Lau Börjesson, Per-Ola Carlsson
Insulin producing cells derived from human embryonic stem cells (hESCs) or induced pluripotent stem cells (iPSCs) have for long been a promising, but elusive treatment far from clinical translation into type 1 diabetes therapy. However, the field is now on the verge of moving such insulin-producing cells into clinical trials. Although stem cell therapies provide great opportunities, there are also potential risks such as teratoma formation associated with the treatment. Many considerations are needed on how to proceed with clinical translation, including whether to use hESCs or iPSCs, and whether encapsulation of tissue will be needed...
May 9, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28476870/plasma-methoxytyramine-clinical-utility-with-metanephrines-for-diagnosis-of-pheochromocytoma-and-paraganglioma
#9
Dipti Rao, Mirko Peitzsch, Aleksander Prejbisz, Katharzyna Hanus, Martin Fassnacht, Felix Beuschlein, Christina Brugger, Stephanie Fliedner, Katharina Langton, Christina Pamporaki, Volker Gudziol, Anthony Stell, Andrzej Januszewicz, Henri J Timmers, Jacques Lenders, Graeme Eisenhofer
CONTEXT: Measurements of plasma methoxytyramine, the O-methylated dopamine metabolite, are useful for detecting rare dopamine-producing pheochromocytomas and paragangliomas (PPGLs) and head and neck paragangliomas (HNPGLs), but utility for screening beyond that achieved using standard measurements of normetanephrine and metanephrine is unclear. OBJECTIVE: Evaluation of the additional utility of methoxytyramine compared to plasma normetanephrine and metanephrine for diagnosis of PPGLs and HNPGLs...
May 5, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28468768/management-of-endocrine-disease-present-and-future-perspectives-for-medical-therapy-of-non-functioning-pituitary-adenomas
#10
Yona Greenman
In contrast to the clear indication for surgical treatment in symptomatic patients with clinically nonfunctioning pituitary adenomas (NFPA), there are no randomized controlled studies comparing therapeutic strategies such as watchful waiting, irradiation, or medical therapy for the management of NFPA after surgery. Further, no medical therapy is currently approved for the treatment of NFPA. In this review, we summarize accumulating data on medications currently approved for secreting pituitary adenomas, used off-label in patients with NFPA...
May 3, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28468767/cardiovascular-events-in-patients-with-mild-autonomous-cortisol-secretion-analysis-with-artificial-neural-networks
#11
Valentina Morelli, Serena Palmieri, Andrea Lania, Alberto Tresoldi, Sabrina Corbetta, Elisa Cairoli, Cristina Eller-Vainicher, Maura Arosio, Massimiliano Copetti, Enzo Grossi, Iacopo Chiodini
BACKGROUND: The independent role of mild autonomous cortisol secretion (ACS) in influencing the cardiovascular event (CVE) occurrence is a topic of interest. We investigated the role of mild ACS in the CVE occurrence in patients with adrenal incidentaloma (AI) by the standard statistics and the artificial neural networks (ANNs). METHODS: We analyzed a retrospective record of 518 AI patients. Data regarding cortisol levels after 1mg-dexamethasone suppression (1-mgDST) and the presence of obesity (OB), hypertension (AH), type-2 diabetes (T2DM), dyslipidaemia (DL), familial CVE history, smoking habit and CVE were collected...
May 3, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28468766/regorafenib-induced-hypothyroidism-and-cancer-related-fatigue-is-there-a-potential-link
#12
Fabiana Pani, Matteo Massidda, Valeria Pusceddu, Marco Puzzoni, Elena Massa, Clelia Madeddu, Mario Scartozzi, Stefano Mariotti
OBJECTIVE: Thyroid dysfunction has been reported during Regorafenib (Reg) administration, but no detailed study is presently available. DESIGN: Prospective, observational cohort study. Patients with documented metastatic colorectal cancer and progression of disease during or within 3 months after the last standard therapy, with no evidence and history of previous thyroid disease were enrolled. METHODS: Twenty-five consecutive patients were evaluated before and 8-50 weeks after initiating Reg therapy by monthly clinical, ultrasound and laboratory (thyrotropin [TSH], free thyroxine [fT4], antithyroglobulin [TgAb] and antithyroid peroxidase [TPOAb]) evaluation...
May 3, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28450305/mechanisms-in-endocrinology-update-on-pathogenesis-of-primary-adrenal-insufficiency-beyond-steroid-enzyme-deficiency-and-autoimmune-adrenal-destruction
#13
Christa Flueck
Primary adrenal insufficiency (PAI) is potentially life threatening, but rare. In children genetic defects prevail, while adults suffer mostly from acquired forms. The spectrum of genetic defects has increased in recent years with the use of next generation sequencing methods and reaches now far beyond genetic defects in known enzymes of steroidogenesis. Cofactor disorders such as P450 oxidoreductase (POR) deficiency manifesting as a complex form of congenital adrenal hyperplasia with a broad clinical phenotype have come to the forth...
April 27, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28432270/discriminating-between-virilizing-ovary-tumors-and-ovary-hyperthecosis-in-postmenopausal-women-clinical-data-hormonal-profiles-and-image-studies
#14
Viviane Dos Reis Vieira Yance, José Antonio Miguel Marcondes, Michelle Patrocíneo Rocha, Cristiano Roberto Grimaldi Barcellos, Wagner Silva Dantas, Ana Flavia Assis Avila, Ronaldo Hueb Baroni, Filomena Marino Carvalho, Sylvia Asaka Yamashita Hayashida, Berenice Bilharinho Mendonça, Sorahia Domenice
The presence of virilizing signs associated with high serum androgen levels in postmenopausal women is rare. Virilizing ovarian tumors (VOTs) and ovarian stromal hyperthecosis (OH) are the most common etiologies in virilized postmenopausal women. The differential diagnosis between these two conditions is often difficult. OBJECTIVE: To evaluate the contribution of clinical features, hormonal profiles and radiological studies to the differential diagnosis of VOT and OH. DESIGN: A retrospective study...
April 21, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28432269/altered-sleep-patterns-in-patients-with-non-functional-ghrh-receptor
#15
Francielle T Oliveira, Roberto Salvatori, Jose' Marcondes, Larissa B Macena, Alecia A Oliveira-Santos, Augusto Cn Faro, Viviane C Campos, Carla R Oliveira, Ursula Mm Costa, Manuel Aguiar-Oliveira
OBJECTIVES: GH releasing hormone (GHRH) exerts hypnotic actions increasing non-rapid eye movement (NREM) sleep. Conversely, GH stimulates REM sleep. GH deficiency (GHD) often leads to sleep problems, daytime fatigue, and reduced quality of life (QoL). GHD may be due to lack of hypothalamic GHRH or destruction of somatotroph cells. We have described a cohort with isolated GHD (IGHD) due to GHRH resistance caused by a homozygous null mutation in the GHRH receptor gene. They have normal QoL and no obvious complaints of chronic tiredness...
April 21, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28432268/clinical-outcomes-after-delayed-thyroid-surgery-in-patients-with-papillary-thyroid-microcarcinoma
#16
Min Ji Jeon, Won Gu Kim, Hyemi Kwon, Mijin Kim, Suyeon Park, Hye-Seon Oh, Minkyu Han, Tae-Yon Sung, Ki-Wook Chung, Suck Joon Hong, Tae Yong Kim, Young-Kee Shong, Won Bae Kim
OBJECTIVE: Active surveillance is an option for patients with papillary thyroid microcarcinoma (PTMC). However, the long-term clinical outcomes after delayed surgery remain unclear. We compared the long-term clinical outcomes of PTMC patients according to the time interval between initial diagnosis and surgery. DESIGN & METHODS: In this individual risk factor-matched cohort study, PTMC patients were classified into three groups according to the delay period: ≤ 6 months, 6-12 months, and > 12 months...
April 21, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28432267/assessment-of-lung-function-in-a-large-cohort-of-patients-with-acromegaly
#17
Sylvere Störmann, Bodo Gutt, Josefine Roemmler-Zehrer, Martin Bidlingmaier, Rudolf Maria Huber, Jochen Schopohl, Matthias Angstwurm
OBJECTIVE: Acromegaly is associated with increased mortality due to respiratory disease. To date, lung function in patients with acromegaly has only been assessed in small studies, with contradicting results. We assessed lung function parameters in a large cohort of patients with acromegaly. DESIGN: Lung function of acromegaly patients was prospectively assessed using spirometry, blood gas analysis and body plethysmography. Biochemical indicators of acromegaly were assessed through measurement of growth hormone and IGF-I levels...
April 21, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28428227/mechanisms-in-endocrinology-the-multiple-facets-of-gh-lessons-from-lifetime-untreated-isolated-gh-deficiency-due-to-ghrh-receptor-mutation
#18
Manuel Aguiar-Oliveira, Anita Ho Souza, Carla R Oliveira, Viviane C Campos, Luiz A Oliveira-Neto, Roberto Salvatori
Twenty years ago, we described a kindred of 105 individuals with isolated GH deficiency (IGHD) in Itabaianinha County, in Brazilian northeast, due to a homozygous mutation in the GH-releasing hormone receptor gene. These subjects exhibit markedly reduced GH responsiveness to stimulatory tests, and anterior pituitary hypoplasia. Serum concentrations of IGF-I, IGF binding protein type 3, and the acid-labile subunit are markedly reduced, with a lesser reduction of IGF-II. The most striking physical findings of these IGHD individuals are the proportionate short stature, doll facies, high-pitched voice, and visceral obesity with reduced fat free mass...
April 20, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28424174/the-clinical-value-of-regular-thyroid-function-tests-during-amiodarone-treatment
#19
Stan Benjamens, Robin P F Dullaart, Wim J Sluiter, Michiel Rienstra, Isabelle C van Gelder, Thera P Links
OBJECTIVE: Amiodarone is used for the maintenance of sinus rhythm in patients with arrhythmias, but thyroid dysfunction (amiodarone-induced thyrotoxicosis(AIT) or -hypothyroidism(AIH)) is a common adverse effect. Since the onset of AIT and AIH may be unpredictable, the value of long-term regular monitoring of amiodarone treated patients for thyroid dysfunction is still uncertain. DESIGN: We retrospectively documented the frequency at which overt thyroid dysfunction was preceded by subclinical thyroid dysfunction...
April 19, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28424173/association-between-estimated-glomerular-filtration-rate-and-outcomes-in-patients-with-diabetic-foot-ulcers-a-3-year-follow-up-study
#20
Yang He, Hongjie Qian, Lei Xu, Shanshan Zhang, Xueming Gu, Junyi Gu, Jianyuan Shi, Yaping Shen, Jian-Min Liu, Zhengyi Tang
OBJECTIVE: End stage renal disease and dialysis have been proven to be associated with poor prognoses in diabetic foot ulcers (DFU). However, it has rarely been reported whether and to what extent milder renal insufficiency effects the prognosis. The purpose of this study was to investigate the categorized impact of estimated glomerular filtration (eGFR) on the outcomes of patients with DFU. DESIGN AND METHODS: Three hundred and sixty-six DFU patients hospitalized in a Chinese tertiary hospital were recruited and classified into 4 groups according to the eGFRs as follows: normal (≥90), mildly reduced (60-89), moderately reduced (30-59), and severely reduced (<30)...
April 19, 2017: European Journal of Endocrinology
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