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S R Ali Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, UK
Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK

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J Bryce Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK

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A L Priego-Zurita Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands

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M Cherenko Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands

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C Smythe Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK

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T M de Rooij Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands

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M Cools Department of Internal Medicine and Paediatrics, Ghent University, Belgium
Department of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium

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T Danne Diabetes Center AUF DER BULT, Hannover, Germany

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H Katugampola UCL GOS Institute of Child Health, London

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O M Dekkers Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands
Department of Medicine & Clinical Epidemiology, Leiden University Medical Centre, Leiden, the Netherlands

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O Hiort Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, University of Lübeck, Lübeck, Germany

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A Linglart AP-HP, Université Paris Saclay, INSERM, Bicêtre Paris Saclay Hospital, le Kremlin Bicêtre, France

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I Netchine Sorbonne Université, Inserm, Centre de recherche Sainte Antoine, APHP, Hôpital des Enfants Armand Trousseau, Paris, France

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A Nordenstrom Pediatric Endocrinology, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden

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P Attila Clinical Genetics and Endocrinology Laboratory, Department of Laboratory Medicine, Semmelweis University, Budapest, Hungary

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L Persani Department of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy

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N Reisch Endokrinologie, Medizinische Klinik Innenstadt und Poliklinik IV, Klinikum der Universität München, Munich, Germany

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A Smyth Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK

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Z Sumnik Department of Pediatrics, Motol University Hospital and 2nd Faculty of Medicine, Charles University, Prague, Czech Republic

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D Taruscio National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy

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W E Visser Erasmus Medical Centre, Department of Internal Medicine, Academic Centre for Thyroid Diseases, Rotterdam, the Netherlands

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A M Pereira Department of Endocrinology and Metabolism, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam, the Netherlands
Amsterdam Gastroenterology Endocrinology and Metabolism, Amsterdam, the Netherlands

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N M Appelman-Dijkstra Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands

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S F Ahmed Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, UK
Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK
Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands

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Objective

The European Registries for Rare Endocrine Conditions (EuRRECa, eurreb.eu) includes an e-reporting registry (e-REC) used to perform surveillance of conditions within the European Reference Network (ERN) for rare endocrine conditions (Endo-ERN). The aim of this study was to report the experience of e-REC over the 3.5 years since its launch in 2018.

Methods

Electronic reporting capturing new encounters of Endo-ERN conditions was performed monthly through a bespoke platform by clinicians registered to participate in e-REC from July 2018 to December 2021.

Results

The number of centres reporting on e-REC increased to a total of 61 centres from 22 countries. A median of 29 (range 11, 45) paediatric and 32 (14, 51) adult centres had reported cases monthly. A total of 9715 and 4243 new cases were reported in adults (age ≥18 years) and children, respectively. In children, sex development conditions comprised 40% of all reported conditions and transgender cases were most frequently reported, comprising 58% of sex development conditions. The median number of sex development cases reported per centre per month was 0.6 (0, 38). Amongst adults, pituitary conditions comprised 44% of reported conditions and pituitary adenomas (69% of cases) were most commonly reported. The median number of pituitary cases reported per centre per month was 4 (0.4, 33).

Conclusions

e-REC has gained increasing acceptability over the last 3.5 years for capturing brief information on new encounters of rare conditions and shows wide variations in the rate of presentation of these conditions to centres within a reference network.

Significance statement

Endocrinology includes a very wide range of rare conditions and their occurrence is often difficult to measure. By using an electronic platform that allowed monthly reporting of new clinical encounters of several rare endocrine conditions within a defined network that consisted of several reference centres in Europe, the EuRRECa project shows that a programme of e-surveillance is feasible and acceptable. The data that have been collected by the e-reporting of rare endocrine conditions (e-REC) can allow the continuous monitoring of rare conditions and may be used for clinical benchmarking, designing new studies or recruiting to clinical trials.

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Peiwen Wu Department of Radiation Oncology, The First Affiliated Hospital of Xi’an Jiaotong University, Xi’an, China

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Dongjie He Department of Radiation Oncology, Tangdu Hospital, the Second Affiliated Hospital of Air Force Medical University, Xi’an, China

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Hao Chang Department of Radiation Oncology, Tangdu Hospital, the Second Affiliated Hospital of Air Force Medical University, Xi’an, China

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Xiaozhi Zhang Department of Radiation Oncology, The First Affiliated Hospital of Xi’an Jiaotong University, Xi’an, China

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Background

Updated epidemiological data of neuroendocrine tumors are currently lacking. Thus, we performed epidemiological and survival analyses on a large cohort of patients with neuroendocrine tumors and developed a new nomogram to predict survival.

Methods

This population-based study examined 112,256 patients with neuroendocrine tumors between 2000 and 2018 using data from the Surveillance, Epidemiology, and End Results program.

Results

The age-adjusted incidence per 100,000 persons of neuroendocrine tumors increased from 4.90 in 2000 to 8.19 in 2018 (annual percentage change, 3.40; 95% confidence interval, 3.13–3.67), with the most significant increases in grade 1, localized stage, and appendix neuroendocrine tumors. The age-adjusted mortality rate increased 3.1-fold from 2000 to 2018 (annual percentage change, 4.14; 95% confidence interval, 3.14–5.15). The 1-, 5-, and 10-year relative survival rates for all neuroendocrine tumors were 80.5%, 68.4%, and 63.5%, respectively. Multivariate analyses showed that male sex; older age; Black, American Indian, and Alaska Native populations; earlier year of diagnosis; lung neuroendocrine tumors; higher grades; and later stage were associated with a worse prognosis and that disease stage and grade were the most important risk factors for prognosis. Furthermore, we established a nomogram to predict the 3-, 5-, and 10-year survival rates, and its discrimination ability was better than that of the TNM classification.

Conclusions

The incidence, prevalence, and mortality rate of neuroendocrine tumors continued to increase over the last two decades. Additionally, the nomogram could accurately quantify the risk of death in patients with neuroendocrine tumors and had good clinical practicability.

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Tao Gao Department of General Practice, The Second Affiliated Hospital of Chongqing Medical University, Chongqing Medical University, Chongqing, China

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Rui Liu Department of Oncology. The Second Affiliated Hospital of Chongqing Medical University, Chongqing Medical University, Chongqing, China

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Chunli Li Institute of Life Sciences, Chongqing Medical University, Chongqing, China

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Xinglin Chu Department of General Practice, The Second Affiliated Hospital of Chongqing Medical University, Chongqing Medical University, Chongqing, China

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Qiao Guo Department of General Practice, The Second Affiliated Hospital of Chongqing Medical University, Chongqing Medical University, Chongqing, China

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Dazhi Ke Department of General Practice, The Second Affiliated Hospital of Chongqing Medical University, Chongqing Medical University, Chongqing, China

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Background

Fetuin-B, a cytokine that regulates lipid metabolism, has recently been linked to cardiovascular diseases such as coronary heart disease. In this study, we discussed the relationship between fetuin-B and essential hypertension.

Method

A bioinformatics analysis of fetuin-B was performed. A total of 206 with essential hypertension and 180 age- and-sex-matched healthy subjects were enrolled. Plasma fetuin-B, endothelin 1 (ET-1), nitric oxide (NO), and adiponectin (ADI) levels were measured using ELISA kits.

Results

Bioinformatics analysis has revealed that fetuin-B plays an important role in pathways such as lipid metabolism. Compared with healthy subjects, serum fetuin-B levels in patients with essential hypertension were significantly increased. Correlation analysis showed that the serum fetuin-B level was positively correlated with systolic blood pressure (SBP), diastolic blood pressure, body mass index, fat percentage in vivo, waist–hip ratio, intima–media thickness, low-density lipoprotein cholesterol (LDL-C), glutamyltranspeptidase, alanine transaminase, albumin, fasting blood glucose (FBG), glycated hemoglobin, and ET-1 in the overall study subjects (all P < 0.05) and negatively correlated with HDL-C, ADI, and NO (all P < 0.05). Multivariate linear regression analysis showed that SBP, FBG, LDL-C, ADI, and ET-1 were independent factors affecting serum fetuin-B. A binary logistic regression analysis showed that fetuin-B was an independent risk factor for primary hypertension (odds ratio: 1.060, 95% CI: 1.034–1.086, P < 0.001). Receiver operating characteristic curve analysis was used to evaluate the predictive value of fetuin-B for primary hypertension, and the optimal cutoff point was 83.14 μg/mL (sensitivity 77.4%, specificity 63.3%) (area under the curve) = 0.7738, 95% CI 0.7276–0.8200, P < 0.001).

Conclusion

Elevated fetuin-B levels are associated with an increased risk of essential hypertension.

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Simona Censi Endocrinology Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy

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Laura Salmaso Clinical Governance Unit, Azienda Zero, Veneto Region, Italy

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Filippo Ceccato Endocrinology Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy

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Jacopo Manso Endocrinology Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy
Pediatric Endocrinology Unit, Department of Women's and Children's Health, Padua University Hospital, Padova, Italy

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Ugo Fedeli Clinical Governance Unit, Azienda Zero, Veneto Region, Italy

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Mario Saia Clinical Governance Unit, Azienda Zero, Veneto Region, Italy

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Caterina Mian Endocrinology Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy

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Objective

An improvement in iodine status in Veneto Region has been documented in the last decade. We aimed at estimating the incidence of hyperthyroidism in the Veneto Region (Italy) over the period 2013–2022.

Methods

Retrospective population-based study conducted in Veneto (4.9 million people) using the population registry, an administrative health database. Between 2012 and 2022, hyperthyroidism incidence was defined thank to a health-care co-payment exemption for hyperthyroidism or any hospital diagnosis of hyperthyroidism. Incident hyperthyroidism was defined from 2013 to 2022 to exclude prevalent cases. Standardized incidence rates (IRs) were reported by age, sex, and etiology of thyroid hyperfunction too.

Results

We identified 26,602 incident cases (IR of 54.38 per 100,000 person-years, 2.47-fold higher in females than in males). IR decreased from 69.87 (95% CI: 67.49, 72.25) in 2013 to 42.83 (95% CI: 40.99, 44.66) in 2022. In 2020, an out-of-trend decrease in hyperthyroidism incidence was documented, corresponding to the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic outbreak, with a realignment to the trend in the subsequent years. The annual percentage change according to the cause of hyperthyroidism was as follows: −6.62% (95% CI: 8.47, 4.73) (P < 0.0001) in toxic multinodular goiter, −7.56% in toxic uninodular goiter (95% CI: 10.54, 4.48) (P < 0.001) and −4.70% (95% CI: 6.33, 3.04) in toxic diffuse goiter (Graves’ disease) (P < 0.001).

Conclusions

We documented a decline in the incidence of hyperthyroidism in Veneto Region, paralleling the improvement of the iodine status, thanks to a long and sustained iodine prophylaxis campaign. SARS-CoV-2 pandemic and vaccination campaign did not change the declining trend of hyperthyroidism incidence in our study region.

Significance statement

An improvement in iodine status in the population residing in the Veneto region has been documented in the last decade, thanks to a nationwide voluntary iodine prophylaxis program running since 2005, but its impact on the epidemiology of thyroid disease has never been documented. This is the largest study on the incidence rates of hyperthyroidism carried out in Italy and covers the longest observation period among all regionwide population-based studies of hyperthyroidism in our country. We documented a reduction in the incidence of hyperthyroidism, which was more pronounced in nodular goiter diagnosis but involved also toxic diffuse goiter. The decline in the incidence of hyperthyroidism in Veneto Region shows the efficacy and safety of the iodine prophylaxis campaign.

Open access
Hanneke J C M Wouters Department of Endocrinology, University of Groningen, University Medical Center Groningen, The Netherlands
Department of Hematology, University of Groningen, University Medical Center Groningen, The Netherlands

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Bruce H R Wolffenbuttel Department of Endocrinology, University of Groningen, University Medical Center Groningen, The Netherlands

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Anneke C Muller Kobold Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, The Netherlands

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Thera P Links Department of Endocrinology, University of Groningen, University Medical Center Groningen, The Netherlands

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Gerwin Huls Department of Hematology, University of Groningen, University Medical Center Groningen, The Netherlands

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Melanie M van der Klauw Department of Endocrinology, University of Groningen, University Medical Center Groningen, The Netherlands

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Hypothyroidism is associated with a decreased health-related quality of life (HRQoL). We hypothesized that individuals with hypothyroidism (defined as use of thyroid hormone (TH)) and especially those having an impaired HRQoL are characterized by a high prevalence of comorbid disorders and that the impact of hypothyroidism and comorbidity on HRQoL is synergistic. Presence of comorbidity was based on data obtained using structured questionnaires, physical examination, biochemical measurements and verified medication use. Single morbidities were clustered into 14 different disease domains. HRQoL was measured using the RAND-36. Logistic regression analyses were used to determine the effect of TH use on the odds of having an affected disease domain and a lower score than an age- and sex-specific reference value for HRQoL. TH was used by 4537/14,7201 participants of the population-based Lifelines cohort with a mean (± s.d.) age of 51.0 ± 12.8 years (88% females). Eighty-five percent of the TH users had ≥1 affected disease domain in contrast to 71% of nonusers. TH use was associated with a higher odds of 13 out of 14 affected disease domains independent of age and sex. In a multivariable model, TH use was associated with a decreased HRQoL across six out of eight dimensions. No significant interactions between TH use and affected disease domains were observed. TH users with an impaired HRQoL had significantly more comorbidity than those not having an impaired HRQoL. In this large, population-based study, we demonstrated that TH users had more comorbidity than individuals not using TH. The coexistence of other chronic medical conditions in subjects with TH use led to further lowering of HRQoL in an additive manner.

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Simone Martins de Castro Hospital Materno Infantil Presidente Vargas, Newborn Screening Referral Center, Porto Alegre, RS, Brazil
Department of Analysis, Universidade Federal do Rio Grande do Sul (UFRGS), School of Pharmacy, Porto Alegre, RS, Brazil

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Paloma Wiest Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil

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Poli Mara Spritzer Division of Endocrinology, Department of Physiology, Universidade Federal do Rio Grande do Sul (UFRGS), Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil

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Cristiane Kopacek Hospital Materno Infantil Presidente Vargas, Newborn Screening Referral Center, Porto Alegre, RS, Brazil
Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil
Department of Pediatrics, Universidade Federal do Rio Grande do Sul (UFRGS), Medical School, Porto Alegre, RS, Brazil

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Congenital adrenal hyperplasia (CAH) occurs due to enzyme defects in adrenal steroidogenesis. The 21-hydroxylase deficiency accounts for 90–95% of cases, triggering accumulation of 17-hydroxyprogesterone (17-OHP). Early diagnosis through neonatal screening allows adequate treatment and reduced mortality. The purpose of the study was to determine 17-OHP cutoffs for the diagnosis of CAH in a public newborn screening program in Southern Brazil. A retrospective, descriptive, cross-sectional study was conducted to analyze 17-OHP levels in dried blood samples collected on filter paper of 317,745 newborns screened at a public newborn screening center from May 2014 to April 2017. Neonatal 17-OHP was measured in DBS samples using a time-resolved fluoroimmunoassay (GSP® kit 3305-0010; PerkinElmer). Different cutoffs were determined and stratified by birth weight. The incidence of CAH was 1:15,887 live births in the state of Rio Grande do Sul, with 20 cases of classical CAH diagnosed during the study period. Most newborns (80.73%) were white, and the prematurity rate was 9.8% in the study population. The combination of different percentiles, 98.5th for birth weight 2001–2500 g and 99.8th for the other birth weight groups, decreased false-positive results and increased specificity compared with current reference values to identify classical CAH cases. The local 17-OHP cutoffs determined were higher than those currently used by this screening program for all birth weight groups. The calculation of reference values from local population data and the combination of percentiles proved to be a valuable tool for proper diagnosis of CAH and reduction in the number of false positives.

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Kuang Hung Department of Medical Imaging, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan

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Bo-Ching Lee Department of Medical Imaging, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan

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Po-Ting Chen Department of Medical Imaging, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan

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Kao-Lang Liu Department of Medical Imaging, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan

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Chin-Chen Chang Department of Medical Imaging, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
Department and Graduate Institute of Forensic Medicine, National Taiwan University College of Medicine, Taipei, Taiwan

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Vin-Cent Wu Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan

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Yen-Hung Lin Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan

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Context

Autonomous cortisol secretion (ACS) has a relatively high prevalence in patients with primary aldosteronism (PA). There is still a lack of relevant studies to analyze the influence of ACS on diagnosing and managing PA.

Objective

To evaluate the influence of ACS on image–adrenal venous sampling (AVS) correlation and the postoperative results.

Methods

This was a retrospective study using the Taiwan Primary Aldosteronism Investigation database from July 2017 to April 2020, with 327 PA patients enrolled. A total of 246 patients were included in the image–AVS analysis. Patients who had undergone unilateral adrenalectomy and a 12-month follow-up were included in the postoperative analysis.

Results

Sixty-five patients (26.4%) had ACS. The image–AVS discordance rate was higher in the ACS group compared to the non-ACS group (75.4% (n = 49) vs 56.4% (n = 102); odds ratio (OR) = 2.37 (CI: 1.26–4.48); P = 0.007). The complete biochemical success rate was higher in the non-ACS group than that in the ACS group (98.1% (n = 51) vs 64.3% (n = 9); OR = 28.333 (CI: 2.954–271.779); P = 0.001). In logistic regression analysis, ACS was the only factor associated with lower biochemical success (OR = 0.035 (CI: 0.004–0.339), P = 0.004).

Conclusion

PA patients with ACS have higher image–AVS discordance rate and worse biochemical outcomes after surgery. ACS was the only negative predictor of postoperative biochemical outcomes. Further studies and novel biomarkers for AVS are crucial for obtaining better postoperative outcomes in PA patients with ACS.

Open access
Claire L Wood Department of Paediatric Endocrinology, Royal Victoria Infirmary, Newcastle upon Tyne, UK
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK

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Kieren G Hollingsworth Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK

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Edrina Bokaie Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK

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Eric Hughes Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK

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Robert Muni-Lofra Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK

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Anna Mayhew Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK

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Rod T Mitchell MRC Centre for Reproductive Health, The University of Edinburgh, Queens Medical Research Institute, Edinburgh, UK

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Michela Guglieri Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK

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Joseph McElvaney Department of Paediatric Endocrinology, Royal Victoria Infirmary, Newcastle upon Tyne, UK

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Timothy D Cheetham Department of Paediatric Endocrinology, Royal Victoria Infirmary, Newcastle upon Tyne, UK
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK

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Volker Straub Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK

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Glucocorticoids (GCs) reduce inflammation and preserve muscle function in boys with Duchenne muscular dystrophy (DMD) but cause pubertal delay. Pubertal induction with testosterone is recommended but longer-term outcome is unknown.

Objective

To assess hypothalamic–pituitary–gonadal axis, muscle volume and function 5 years after pubertal induction.

Methods

A prospective observational follow-up of a clinical study was conducted. 15 GC-treated males with DMD were treated with incremental testosterone for 2 years (end of regimen +2 years) then evaluated at +2.5 years and +5 years (final follow-up ~3 years after last injection). Data collected included testicular volume (TV), gonadotrophin, testosterone, inhibin B, muscle function, and limb muscle MRI.

Results

Participants were 18.7 years (s.d. 1.6) at the final follow-up and had been on GC for 11.2 years (s.d. 2.2). Testosterone levels were similar at +2.5 years (8.6 nmol/L (s.d. 3.4) and 5 years (11.0 nmol/L (s.d. 6.1). TV increased from 2.8 mL (s.d. 0.9) at +2 years to 7.1 mL (s.d. 1.8) then 10.6 mL (s.d. 3.5) at +2.5 years and +5.0 years (P < 0.001). Inhibin B levels increased from 55.6 pg/mL (s.d. 47.0) at baseline to 158.2 pg/mL (s.d.87.6), P =0.004 at 5 years but remained lower than reference values (mean 305 pg/mL). Muscle contractile bulk decreased.

Interpretation

Pubertal induction with testosterone in DMD is associated with HPG axis activation and ongoing increases in inhibin B, TV, and testosterone concentrations. Some patients have normal levels which is promising regarding future fertility. Given the beneficial impact of testosterone on bone health, muscle, and well-being, monitoring testosterone levels in this population and supplementation of sub-optimal levels is important.

Open access
Feifei Shao Department of Endocrinology, Gansu Provincial Hospital, Lanzhou, Gansu, China
Clinical Research Center for Metabolic Disease, Gansu Province, Lanzhou, Gansu, China
The First School of Clinical Medicine, Lanzhou University, Lanzhou, Gansu, China

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Xinxin Hu Clinical Research Center for Metabolic Disease, Gansu Province, Lanzhou, Gansu, China
The First School of Clinical Medicine, Lanzhou University, Lanzhou, Gansu, China

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Jiayu Li Clinical Research Center for Metabolic Disease, Gansu Province, Lanzhou, Gansu, China
The First School of Clinical Medicine, Lanzhou University, Lanzhou, Gansu, China

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Bona Bai Clinical Research Center for Metabolic Disease, Gansu Province, Lanzhou, Gansu, China
The First School of Clinical Medicine, Lanzhou University, Lanzhou, Gansu, China

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Limin Tian Department of Endocrinology, Gansu Provincial Hospital, Lanzhou, Gansu, China
Clinical Research Center for Metabolic Disease, Gansu Province, Lanzhou, Gansu, China
The First School of Clinical Medicine, Lanzhou University, Lanzhou, Gansu, China

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Aims

Aging, obesity, and type 2 diabetes mellitus (T2DM) form a metabolic disease continuum that has a continuously increasing prevalence. Lipidomics explains the complex interactions between lipid metabolism and metabolic diseases. We aimed to systematically investigate the plasma lipidome changes induced by newly diagnosed impaired glucose tolerance (IGT) and T2DM in overweight/obese elderly individuals and to identify potential biomarkers to differentiate between the IGT, T2DM, and control groups.

Methods

Plasma samples from 148 overweight/obese elderly individuals, including 52 patients with IGT, 47 patients with T2DM, and 49 euglycemic controls, were analyzed using a high-coverage nontargeted absolute quantitative lipidomics approach.

Results

We quantified 1840 lipids from thirty-eight classes and seven lipid categories. Among overweight/obese elderly individuals, the lipidomic profiles of IGT and T2DM patients were significantly different from those of controls, while they were similar in the IGT and T2DM groups. The concentrations of diglycerides, triglycerides, phosphatidylcholines, and ceramides were obviously altered in the IGT and T2DM groups. Particularly, IGT and T2DM induced the accumulation of triglycerides with longer carbon atom numbers (C44–50) and saturated or lower double bond numbers (n (C=C) = 0–2). Furthermore, a total of 17 potential lipidic biomarkers were identified to successfully differentiate between the IGT, T2DM, and control groups.

Conclusions

In overweight/obese elderly patients, IGT and T2DM induced apparent lipidome-wide changes. This study’s results may contribute to explaining the complex dysfunctional lipid metabolism in aging, obesity, and diabetes.

Open access
Stefan M Constantinescu Department of Endocrinology and Nutrition, Cliniques Universitaires Saint-Luc, Brussels, Belgium

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Thierry Duprez Department of Radiology, Cliniques Universitaires Saint-Luc, Brussels, Belgium

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Edward Fomekong Department of Neurosurgery, Cliniques Universitaires Saint-Luc, Brussels, Belgium

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Christian Raftopoulos Department of Neurosurgery, Cliniques Universitaires Saint-Luc, Brussels, Belgium

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Orsalia Alexopoulou Department of Endocrinology and Nutrition, Cliniques Universitaires Saint-Luc, Brussels, Belgium

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Dominique Maiter Department of Endocrinology and Nutrition, Cliniques Universitaires Saint-Luc, Brussels, Belgium

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Objectives

The incidental diagnosis of nonfunctioning pituitary macroadenomas (NFPMAs) is becoming more prevalent with the spread of modern brain imaging techniques. We sought to uncover new data about their natural history and surgical outcome.

Design

This is a retrospective single-center observational study.

Methods

Among 210 patients seen for a NFPMA between 2010 and 2019, 70 (33%) were discovered incidentally (i-NFPMA). We analyzed outcomes in a total of 65 patients with available follow-up data.

Results

Mean age at diagnosis (± s.d.) was 60 ± 14 years and mean maximal diameter was 20.0 ± 7.3 mm. At diagnosis, 29 patients (45%) had pituitary hormone deficits (LH/FSH 41%, TSH 29%, ACTH 15%) and 12% had visual field deficits. 26 patients underwent initial surgery, while 12 had delayed surgery after initial surveillance. In the surveillance group, the risk of tumor growth was estimated at 10%/year. Patients with hormonal deficits at diagnosis experienced earlier growth at 24 months (P < 0.02). Overall, surgical resection of the i-NFPMA led to stable or improved endocrine function in 91% of patients, with only 6% postoperative permanent diabetes insipidus. Moreover, surgery was more effective in preserving intact endocrine function (10/12) than restoring altered endocrine function to normal (6/22, P = 0.03).

Conclusion

About one-third of NFPMAs are now discovered incidentally and a significant subset may be responsible for unrecognized endocrine and visual deficits. Under surveillance the risk of further tumor growth is significant (10%/year) and seems to occur faster in patients already harboring an endocrine deficit. Early surgical removal before onset of endocrine deficits appears to lead to better endocrine outcome.

Open access