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Liang Xue Fuzong Clinical Medical College of Fujian Medical University, Fuzhou, China
Department of Neurosurgery, 900TH Hospital of the Joint Logistics Support Force, Fuzhou, Fujian, China

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Jianwu Wu Department of Neurosurgery, 900TH Hospital of the Joint Logistics Support Force, Fuzhou, Fujian, China

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Jie Chen Department of Radiology, 900TH Hospital of the Joint Logistics Support Force, Fuzhou, Fujian, China

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Yongkai Yang Department of Neurosurgery, Affiliated Fuzhou First Hospital of Fujian Medical University, Fuzhou, Fujian, China

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Purpose

We aimed to assess the factors influencing the development of diabetes insipidus after transsphenoidal surgery for pituitary adenomas.

Methods

A retrospective analysis was conducted on the clinical data of patients with pituitary adenomas who underwent transsphenoidal surgery. The predictors of postoperative diabetes insipidus were determined using statistical analysis.

Results

Of the 415 patients who underwent microscopic transsphenoidal surgery for pituitary adenomas, 196 experienced postoperative diabetes insipidus. The sinking depth of the diaphragma sellae and the difference between the preoperative and postoperative pituitary stalk deviation angles in the diabetes insipidus group were greater than those in the non-diabetes insipidus group. Logistic regression analysis showed that the risk of diabetes insipidus after transsphenoidal surgery was higher in patients with a larger difference in their pituitary stalk deviation angles (odds ratio = 2.407, 95% CI = 1.335–4.342; P = 0.004).

Conclusion

The difference in the pituitary stalk deviation angle could predict the onset of diabetes insipidus after transsphenoidal surgery for pituitary adenomas.

Open access
The Working Group for Renaming Diabetes Insipidus
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Hiroshi Arima Department of Endocrinology and Diabetes, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan
Japan Endocrine Society

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Timothy Cheetham Department of Paediatric Endocrinology, Newcastle University Faculty of Medical Sciences, Great North Children’s Hospital, Royal Victoria Infirmary, Newcastle upon Tyne, UK
European Society for Pediatric Endocrinology

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Mirjam Christ-Crain Department of Endocrinology, Diabetes and Metabolism, University Hospital Basel, University of Basel, Switzerland
European Society of Endocrinology

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Deborah Cooper Department of Endocrinology, Diabetes and Metabolism, University Hospital Basel, University of Basel, Switzerland

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Mark Gurnell European Society of Endocrinology
Wellcome-MRC Institute of Metabolic Science, University of Cambridge & Addenbrooke’s Hospital, Cambridge Biomedical Campus, Cambridge, UK

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Juliana B Drummond Faculdade de Medicina da UFMG, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil
Brazilian Society of Endocrinology and Metabolism

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Miles Levy Endocrinology, University Hospitals of Leicester, Leicester, UK
Society for Endocrinology

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Ann I McCormack Hormones and Cancer Group, Garvan Institute of Medical Research, Sydney, New South Wales, Australia
Endocrine Society of Australia

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Joseph Verbalis Endocrinology and Metabolism, Georgetown University Medical Center, Washington DC, District of Columbia, USA
Endocrine Society

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John Newell-Price Endocrine Society
Department of Oncology and Metabolism, The Medical School, University of Sheffield, Sheffield, UK

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John A H Wass Department of Endocrinology, Oxford Centre for Diabetes Endocrinology & Metabolism – Endocrinology, Oxford, UK
Pituitary Society

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What’s in a name? That which we call a rose/By any other name would smell as sweet’ (Juliet, from Romeo and Juliet by William Shakespeare). Shakespeare’s implication is that a name is nothing but a word, and it therefore represents a convention with no intrinsic meaning. While this may be relevant to romantic literature, disease names do have real meanings, and consequences, in medicine. Hence, there must be a very good rationale for changing the name of a disease that has a centuries-old historical context. A working group of representatives from national and international endocrinology, and pediatric endocrine societies now proposes changing the name of ‘diabetes insipidus’ to ‘arginine vasopressin deficiency (AVP-D)’ for central etiologies, and ‘arginine vasopressin resistance (AVP-R)’ for nephrogenic etiologies. This article provides both the historical context and the rationale for this proposed name change.

Open access
Cihan Atila Department of Endocrinology, Diabetology and Metabolism, University Hospital Basel, Basel, Switzerland
Department of Clinical Research, University of Basel, Basel, Switzerland

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Sophie Monnerat Department of Endocrinology, Diabetology and Metabolism, University Hospital Basel, Basel, Switzerland
Department of Clinical Research, University of Basel, Basel, Switzerland

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Roland Bingisser Emergency Department, University Hospital Basel, Basel, Switzerland

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Martin Siegemund Department of Intensive Care, University Hospital Basel, Basel, Switzerland

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Maurin Lampart Department of Cardiology and Cardiovascular Research Institute Basel (CRIB), University Hospital Basel, University of Basel, Basel, Switzerland

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Marco Rueegg Emergency Department, University Hospital Basel, Basel, Switzerland

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Núria Zellweger Department of Intensive Care, University Hospital Basel, Basel, Switzerland

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Stefan Osswald Department of Cardiology and Cardiovascular Research Institute Basel (CRIB), University Hospital Basel, University of Basel, Basel, Switzerland

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Katharina Rentsch Department of Laboratory Medicine, University Hospital Basel, Basel, Switzerland

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Mirjam Christ-Crain Department of Endocrinology, Diabetology and Metabolism, University Hospital Basel, Basel, Switzerland
Department of Clinical Research, University of Basel, Basel, Switzerland

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Raphael Twerenbold Department of Cardiology and Cardiovascular Research Institute Basel (CRIB), University Hospital Basel, University of Basel, Basel, Switzerland
University Center of Cardiovascular Science & Department of Cardiology, University Heart and Vascular Center Hamburg, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
German Center for Cardiovascular Research (DZHK), Partner Site Hamburg–Kiel–Lübeck, Hamburg, Germany

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Objective

Hyponatremia in COVID-19 is often due to the syndrome of inadequate antidiuresis (SIAD), possibly mediated by interleukin-6 (IL-6)-induced non-osmotic arginine vasopressin (AVP) secretion. We hypothesized an inverse association between IL-6 and plasma sodium concentration, stronger in COVID-19 compared to other respiratory infections.

Design

Secondary analysis of a prospective cohort study including patients with COVID-19 suspicion admitted to the Emergency Department, University Hospital of Basel, Switzerland, between March and July 2020.

Methods

We included patients with PCR-confirmed COVID-19 and patients with similar symptoms, further subclassified into bacterial and other viral respiratory infections. The primary objective was to investigate the association between plasma sodium and IL-6 levels.

Results

A total of 500 patients were included, 184 (37%) with COVID-19, 92 (18%) with bacterial respiratory infections, and 224 (45%) with other viral respiratory infections. In all groups, median (IQR) IL-6 levels were significantly higher in hyponatremic compared to normonatremic patients (COVID-19: 43.4 (28.4, 59.8) vs 9.2 (2.8, 32.7) pg/mL, P < 0.001; bacterial: 122.1 (63.0, 282.0) vs 67.1 (24.9, 252.0) pg/mL, P < 0.05; viral: 14.1 (6.9, 84.7) vs 4.3 (2.1, 14.4) pg/mL, P < 0.05). IL-6 levels were negatively correlated with plasma sodium levels in COVID-19, whereas the correlation in bacterial and other viral infections was weaker (COVID-19: R = −0.48, P < 0.001; bacterial: R = −0.25, P = 0.05, viral: R = −0.27, P < 0.001).

Conclusions

IL-6 levels were inversely correlated with plasma sodium levels, with a stronger correlation in COVID-19 compared to bacterial and other viral infections. IL-6 might stimulate AVP secretion and lead to higher rates of hyponatremia due to the SIAD in these patients.

Open access
J Van Schaik Division of Pediatric Endocrinology, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht, The Netherlands
Division of Pediatric Oncology, Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands

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M Burghard Division of Pediatric Oncology, Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
Department of Exercise Physiology, Child Development & Exercise Center, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht, The Netherlands

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M H Lequin Division of Pediatric Oncology, Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
Department of Radiology, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht, The Netherlands

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E A van Maren Division of Pediatric Oncology, Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
Department of Radiology, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht, The Netherlands

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A M van Dijk Department of Dietetics, University Medical Center Utrecht, Utrecht, The Netherlands

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T Takken Division of Pediatric Oncology, Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
Department of Exercise Physiology, Child Development & Exercise Center, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht, The Netherlands

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L B Rehorst-Kleinlugtenbelt Division of Pediatric Oncology, Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands

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B Bakker Division of Pediatric Endocrinology, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht, The Netherlands
Division of Pediatric Oncology, Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands

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L Meijer Division of Pediatric Oncology, Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands

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E W Hoving Division of Neurosurgery, Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands

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M Fiocco Division of Pediatric Oncology, Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
Institute of Mathematics, Leiden University, Leiden, The Netherlands

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A Y N Schouten-van Meeteren Division of Pediatric Oncology, Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands

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W J E Tissing Division of Pediatric Oncology, Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
Division of Pediatric Oncology, University Medical Centre Groningen, Groningen, The Netherlands

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H M van Santen Division of Pediatric Endocrinology, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht, The Netherlands
Division of Pediatric Oncology, Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands

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Objective

Children with suprasellar brain damage are at risk of hypothalamic dysfunction (HD). HD may lead to decreased resting energy expenditure (REE). Decreased REE, however, is not present in all children with HD. Our aim was to assess which children suspect for HD have low REE, and its association with clinical severity of HD or radiological hypothalamic damage.

Patients and methods

A retrospective cohort study was performed. Measured REE (mREE) of children at risk of HD was compared to predicted REE (pREE). Low REE was defined as mREE <90% of predicted. The mREE/pREE quotient was associated to a clinical score for HD symptoms and to radiological hypothalamic damage.

Results

In total, 67 children at risk of HD (96% brain tumor diagnosis) with a mean BMI SDS of +2.3 ± 1.0 were included. Of these, 45 (67.2%) had low mREE. Children with severe HD had a significant lower mean mREE/pREE quotient compared to children with no, mild, or moderate HD. Mean mREE/pREE quotient of children with posterior hypothalamic damage was significantly lower compared to children with no or anterior damage. Tumor progression or tumor recurrence, severe clinical HD, and panhypopituitarism with diabetes insipidus (DI) were significant risk factors for reduced REE.

Conclusion

REE may be lowered in children with hypothalamic damage and is associated to the degree of clinical HD. REE is, however, not lowered in all children suspect for HD. For children with mild or moderate clinical HD symptoms, REE measurements may be useful to distinguish between those who may benefit from obesity treatment that increases REE from those who would be better helped using other obesity interventions.

Open access
Nidan Qiao Department of Neurosurgery, Huashan Hospital, Shanghai Medical School, Fudan University, Shanghai, China
National Center for Neurological Disorders, Shanghai, China
Shanghai Clinical Medical Center of Neurosurgery, Shanghai, China
Neurosurgical Institute of Fudan University, Shanghai, China
Shanghai Key Laboratory of Brain Function and Restoration and Neural Regeneration, Shanghai, China

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Haixia Cheng Department of Pathology, Huashan Hospital, Shanghai Medical School, Shanghai, China

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Zhaoyun Zhang Department of Endocrinology, Huashan Hospital, Shanghai Medical School, Shanghai, China

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Hongying Ye Department of Endocrinology, Huashan Hospital, Shanghai Medical School, Shanghai, China

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Ming Shen Department of Neurosurgery, Huashan Hospital, Shanghai Medical School, Fudan University, Shanghai, China
National Center for Neurological Disorders, Shanghai, China
Shanghai Clinical Medical Center of Neurosurgery, Shanghai, China
Neurosurgical Institute of Fudan University, Shanghai, China
Shanghai Key Laboratory of Brain Function and Restoration and Neural Regeneration, Shanghai, China

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Xuefei Shou Department of Neurosurgery, Huashan Hospital, Shanghai Medical School, Fudan University, Shanghai, China
National Center for Neurological Disorders, Shanghai, China
Shanghai Clinical Medical Center of Neurosurgery, Shanghai, China
Neurosurgical Institute of Fudan University, Shanghai, China
Shanghai Key Laboratory of Brain Function and Restoration and Neural Regeneration, Shanghai, China

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Xiaoyun Cao Department of Neurosurgery, Huashan Hospital, Shanghai Medical School, Fudan University, Shanghai, China
National Center for Neurological Disorders, Shanghai, China
Shanghai Clinical Medical Center of Neurosurgery, Shanghai, China
Neurosurgical Institute of Fudan University, Shanghai, China
Shanghai Key Laboratory of Brain Function and Restoration and Neural Regeneration, Shanghai, China

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Hong Chen Department of Neurosurgery, Huashan Hospital, Shanghai Medical School, Fudan University, Shanghai, China
National Center for Neurological Disorders, Shanghai, China
Shanghai Clinical Medical Center of Neurosurgery, Shanghai, China
Neurosurgical Institute of Fudan University, Shanghai, China
Shanghai Key Laboratory of Brain Function and Restoration and Neural Regeneration, Shanghai, China
Department of Pathology, Huashan Hospital, Shanghai Medical School, Shanghai, China

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Xiang Zhou Department of Neurosurgery, Huashan Hospital, Shanghai Medical School, Fudan University, Shanghai, China
National Center for Neurological Disorders, Shanghai, China
Shanghai Clinical Medical Center of Neurosurgery, Shanghai, China
Neurosurgical Institute of Fudan University, Shanghai, China
Shanghai Key Laboratory of Brain Function and Restoration and Neural Regeneration, Shanghai, China

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Yongfei Wang Department of Neurosurgery, Huashan Hospital, Shanghai Medical School, Fudan University, Shanghai, China
National Center for Neurological Disorders, Shanghai, China
Shanghai Clinical Medical Center of Neurosurgery, Shanghai, China
Neurosurgical Institute of Fudan University, Shanghai, China
Shanghai Key Laboratory of Brain Function and Restoration and Neural Regeneration, Shanghai, China

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Yao Zhao Department of Neurosurgery, Huashan Hospital, Shanghai Medical School, Fudan University, Shanghai, China
National Center for Neurological Disorders, Shanghai, China
Shanghai Clinical Medical Center of Neurosurgery, Shanghai, China
Neurosurgical Institute of Fudan University, Shanghai, China
Shanghai Key Laboratory of Brain Function and Restoration and Neural Regeneration, Shanghai, China

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Introduction

Most studies reporting posterior pituitary tumors (PPTs) are small case series or single cases.

Methods

Patients with a histological diagnosis of PPT from January 2010 to December 2021 in a tertiary center were identified. We reported clinical symptoms, endocrine assessments, radiological and pathological features, and surgical outcomes of PPTs.

Results

A total of 51 patients (23 males, 51.3 ± 10.3 years old) with PPT were included in this study. Major symptoms were visual defects, headache, and hypopituitarism, while diabetes insipidus was uncommon (9.8%). The typical radiological feature was homogeneous enhancement (84.3%) of a regular-shaped mass on T1 contrast imaging without cystic change, calcification, or cavernous sinus invasion. We achieved gross total resection in 38/51 patients (74.5%). Pathologically, all tumors showed thyroid transcription factor 1 immunoreactivity. Among 29 patients with suprasellar PPTs, postoperative hemorrhage due to tumor residue was encountered in 2/15 cases in the transcranial group and 0/14 in the endoscopy group. Patients with spindle cell oncocytoma (SCO) were more likely to be surgically treated (25% vs 0%, P = 0.018), harbor a higher Ki-67 index (16.7% vs 0% > 5% P = 0.050), and present a lower 2-year recurrence-free survival rate (67.5% vs 90.9%) compared with patients with pituicytoma or granular cell tumor.

Conclusion

PPTs should be considered in the differential diagnosis of patients with sellar and suprasellar masses with a regular lesion with homogeneous enhancement. SCOs had high proliferation activity and risk of recurrence.

Open access
Muhammad Fahad Arshad Department of Diabetes and Endocrinology, Sheffield Teaching Hospitals, Sheffield, UK
Department of Oncology and Metabolism, The Medical School, The University of Sheffield, Sheffield, UK

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Ahmed Iqbal Department of Diabetes and Endocrinology, Sheffield Teaching Hospitals, Sheffield, UK
Department of Oncology and Metabolism, The Medical School, The University of Sheffield, Sheffield, UK

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James Weeks Department of Diabetes and Endocrinology, Sheffield Teaching Hospitals, Sheffield, UK

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Ines Fonseca Department of Diabetes and Endocrinology, Sheffield Teaching Hospitals, Sheffield, UK

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Alia Munir Department of Diabetes and Endocrinology, Sheffield Teaching Hospitals, Sheffield, UK

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William Bennet Department of Diabetes and Endocrinology, Sheffield Teaching Hospitals, Sheffield, UK

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Objective

To evaluate ‘real-world’ safety and efficacy of the European Society of Endocrinology guidelines for the treatment of severe symptomatic hyponatraemia using hypertonic saline (HTS).

Design

Retrospective, observational, cohort study, examining the use of HTS for severe symptomatic hyponatraemia at Sheffield Teaching Hospitals between 2017 and 2020.

Methods

Patients were identified from pharmacy records and demographic, clinical, and treatment data extracted.

Results

Out of 112 patients (females:males = 61:51), the mean age ± s.d. was 66.3± 16.0 years and mean pre-treatment serum sodium ± s.d. was 113.8 ± 6.4 mmol/L. Overall, overcorrection rates at 24 and 48 h (>10 and >18 mmol/L) were 44.9 and 19.6%, respectively, while 19.6% of patients were treated for overcorrection. Above-target rise in sodium (>5 mmol/L) after first and second boluses was noted in 22.6 and 34.6% of patients, respectively. In-hospital and 12-month mortality was 7.1 and 18.7%, respectively, with no cases of osmotic demyelination. The mean venous blood gas (VBG) sodium was 1.9 mmol/L lower than paired serum sodium (n  = 36) (113.6 ± 6.6 vs 115.7 ± 7.8 mmol/L).

Conclusion

We report real-world data demonstrating that a significant number of patients overcorrected using current guidelines. Also, several patients had above-target rise in sodium after one bolus of HTS, and sodium measurement should be considered before the second bolus unless ongoing severe symptoms persist. A point of care VBG sodium concentration was useful for this purpose. In addition to careful monitoring, a cautious but anticipatory overcorrection prevention strategy should be considered in the first 24 h.

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Jiaxi Li Department of Physiology, Xiangya School of Medicine, Central South University, Changsha, Hunan, China

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Pu Huang Department of Health Management Center, Changsha Central Hospital, University of South China, Changsha, Hunan, China

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Jing Xiong Department of Endocrinology, Xiangya Third Hospital, Central South University, Changsha, Hunan, China

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Xinyue Liang Department of Physiology, Xiangya School of Medicine, Central South University, Changsha, Hunan, China

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Mei Li Department of Physiology, Xiangya School of Medicine, Central South University, Changsha, Hunan, China

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Hao Ke Department of Physiology, Xiangya School of Medicine, Central South University, Changsha, Hunan, China

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Chunli Chen Department of Dermatology, Xiangya Third Hospital, Central South University, Changsha, Hunan, China

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Yang Han Department of Physiology, Xiangya School of Medicine, Central South University, Changsha, Hunan, China

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Yanhong Huang Department of Physiology, Xiangya School of Medicine, Central South University, Changsha, Hunan, China

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Yan Zhou Department of Physiology, Xiangya School of Medicine, Central South University, Changsha, Hunan, China

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Ziqiang Luo Department of Physiology, Xiangya School of Medicine, Central South University, Changsha, Hunan, China
Hunan Key Laboratory of Organ Fibrosis, Central South University, Changsha, Hunan, China

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Dandan Feng Department of Physiology, Xiangya School of Medicine, Central South University, Changsha, Hunan, China
Hunan Key Laboratory of Organ Fibrosis, Central South University, Changsha, Hunan, China

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Chen Chen School of Biomedical Sciences, University of Queensland, St Lucia, Brisbane, Queensland, Australia

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Objective

Ghrelin regulates body weight, food intake, and blood glucose. It also regulates insulin secretion from pancreatic islet cells. LEAP2 is a newly discovered endogenous ligand of the growth hormone secretagogue’s receptor (GHSR). It not only antagonizes the stimulation of GHSR by ghrelin but also inhibits the constitutive activation of GHSR as an inverse agonist. Type 2 diabetes (T2D) patients have endocrine disorders with metabolic imbalance. Plasma levels of ghrelin and LEAP2 may be changed in obese and T2D patients. However, there is no report yet on circulating LEAP2 levels or ghrelin/LEAP2 ratio in T2D patients. In this study, fasting serum ghrelin and LEAP2 levels in healthy adults and T2D patients were assessed to clarify the association of two hormones with different clinical anthropometric and metabolic parameters.

Design

A total of 16 females and 40 males, ages 23–68 years old normal (n  = 27), and T2D patients (n  = 29) were enrolled as a cross-sectional cohort.

Results

Serum levels of ghrelin were lower but serum levels of LEAP2 were higher in T2D patients. Ghrelin levels were positively correlated with fasting serum insulin levels and HOMA-IR in healthy adults. LEAP2 levels were positively correlated with age and hemoglobin A1c (HbA1c) in all tested samples. Ghrelin/LEAP2 ratio was negatively correlated with age, fasting blood glucose, and HbA1c.

Conclusions

This study demonstrated a decrease in serum ghrelin levels and an increase in serum LEAP2 levels in T2D patients. LEAP2 levels were positively correlated with HbA1c, suggesting that LEAP2 was associated with T2D development. The ghrelin/LEAP2 ratio was closely associated with glycemic control in T2D patients showing a negative correlation with glucose and HbA1c.

Open access
Kirsten Davidse Department of Internal Medicine-Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands

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Anneloes van Staa Research Centre Innovations in Care, Rotterdam University of Applied Sciences, Rotterdam, the Netherlands

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Wanda Geilvoet Department of Internal Medicine-Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands

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Judith P van Eck Department of Paediatric Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands

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Karlijn Pellikaan Department of Internal Medicine-Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands

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Janneke Baan Department of Internal Medicine-Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands

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Anita C S Hokken-Koelega Department of Paediatric Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands
Academic Centre for Growth, Erasmus University Medical Centre, Rotterdam, the Netherlands
Dutch Growth Research Foundation, Rotterdam, the Netherlands

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Erica L T van den Akker Department of Paediatric Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands

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Theo Sas Department of Paediatric Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands
Diabeter, National Diabetes Care and Research Centre, Rotterdam, the Netherlands

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Sabine E Hannema Department of Paediatric Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands
Department of Paediatrics, Leiden University Medical Centre, Leiden, the Netherlands

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Aart Jan van der Lely Department of Internal Medicine-Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands

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Laura C G de Graaff Department of Internal Medicine-Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands
Academic Centre for Growth, Erasmus University Medical Centre, Rotterdam, the Netherlands

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Introduction

Transition from paediatric to adult endocrinology can be challenging for adolescents, their families and healthcare professionals. Previous studies have shown that up to 25% of young adults with endocrine disorders are lost to follow-up after moving out of paediatric care. This poses a health risk for young adults, which can lead to serious and expensive medical acute and long-term complications.

Methods

In order to understand and prevent dropout, we studied electronic medical records of patients with endocrine disorders. These patients were over 15 years old when they attended the paediatric endocrine outpatient clinic (OPC) of our hospital in 2013–2014 and should have made the transfer to adult care at the time of the study.

Results

Of 387 adolescents, 131 had an indication for adult follow-up within our university hospital. Thirty-three (25%) were lost to follow-up. In 24 of them (73%), the invitation for the adult OPC had never been sent. We describe the failures in logistic processes that eventually led to dropout in these patients.

Conclusion

We found a 25% dropout during transfer from paediatric to adult tertiary endocrine care. Of all dropouts, 73% could be attributed to the failure of logistic steps. In order to prevent these dropouts, we provide practical recommendations for patients and paediatric and adult endocrinologists.

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Ja Hye Kim Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea

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Yunha Choi Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea

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Soojin Hwang Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea

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Gu-Hwan Kim Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Han-Wook Yoo Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea

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Jin-Ho Choi Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea

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Objective

Heterozygous CHD7 mutations cause a broad spectrum of clinical phenotypes ranging from typical CHARGE syndrome to self-limited delayed puberty. This study aimed to investigate the clinical characteristics of endocrine dysfunction in patients with CHD7 mutations.

Methods

The clinical features and endocrine findings from 30 patients with CHD7 variants were retrospectively reviewed. A diagnosis of CHARGE syndrome was based on the Verloes diagnostic criteria.

Results

Seventeen patients fulfilled the criteria for typical CHARGE syndrome, one patient for partial/incomplete CHARGE, and the remaining eleven patients had atypical CHARGE syndrome. One patient was diagnosed with Kallmann syndrome and unilateral deafness. The most frequently observed features were inner ear anomalies (80.0%), intellectual disability (76.7%), and external ear anomalies (73.3%). The mean height and weight SDSs at diagnosis were −2.6 ± 1.3 and −2.2 ± 1.8, respectively. Short stature was apparent in 18 patients (60%), and 1 patient was diagnosed with growth hormone deficiency. Seventeen males showed genital hypoplasia, including micropenis, cryptorchidism, or both. Seven patients after pubertal age had hypogonadotropic hypogonadism with hyposmia/anosmia and olfactory bulb hypoplasia. Truncating CHD7 mutations were the most common (n  = 22), followed by missense variants (n  = 3), splice-site variants (n  = 2), and large deletion (n  = 2).

Conclusions

A diverse phenotypic spectrum was observed in patients with CHD7 variants, and endocrine defects such as short stature and delayed puberty occurred in most patients. Endocrine evaluation, especially for growth and pubertal impairment, should be performed during diagnosis and follow-up to improve the patient’s quality of life.

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Laura Chioma Endocrinology Unit, University Pediatric Department, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

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Carla Bizzarri Endocrinology Unit, University Pediatric Department, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

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Martina Verzani Endocrinology Unit, University Pediatric Department, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

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Daniela Fava Department of Pediatrics, IRCCS Istituto Giannina Gaslini, Genova, Italy
Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy

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Mariacarolina Salerno Paediatric Endocrinology Unit, Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy

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Donatella Capalbo Paediatric Endocrinology Unit, Department of Mother and Child, University Hospital Federico II, Naples, Italy

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Chiara Guzzetti Paediatric Endocrine Unit, Paediatric Hospital Microcitemico ‘A. Cao’, AO Brotzu, Cagliari, Italy

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Laura Penta Pediatric Clinic, Department of Medicine and Surgery, University of Perugia, Perugia, Italy

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Luigi Di Luigi Endocrinology Unit, Department of Movement, Human and Health Sciences, University of Rome ‘Foro Italico’, Rome, Italy

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Natascia di Iorgi Department of Pediatrics, IRCCS Istituto Giannina Gaslini, Genova, Italy
Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy

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Mohamad Maghnie Department of Pediatrics, IRCCS Istituto Giannina Gaslini, Genova, Italy
Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy

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Sandro Loche Paediatric Endocrine Unit, Paediatric Hospital Microcitemico ‘A. Cao’, AO Brotzu, Cagliari, Italy

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Marco Cappa Endocrinology Unit, University Pediatric Department, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

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Objective

This retrospective study aimed to evaluate children observed for suspected precocious puberty in five Italian centers of Pediatric Endocrinology during the first wave of coronavirus disease 2019 pandemic (March–September 2020), compared to subjects observed in the same period of the previous year.

Design

The study population (490 children) was divided according to the year of observation and final diagnosis: transient thelarche, non-progressive precocious puberty, central precocious puberty (CPP), or early puberty.

Results

Between March and September 2020, 338 subjects were referred for suspected precocious puberty, compared to 152 subjects in the same period of 2019 (+122%). The increase was observed in girls (328 subjects in 2020 vs 140 in 2019, P  < 0.05), especially during the second half of the period considered (92 girls from March to May vs 236 girls from June to September); while no difference was observed in boys (10 subjects in 2020 vs 12 in 2019). The percentage of girls with confirmed CPP was higher in 2020, compared to 2019 (135/328 girls (41%) vs 37/140 (26%), P  < 0.01). Anthropometric and hormonal parameters in 2019 and 2020 CPP girls were not different; 2020 CPP girls showed more prolonged use of electronic devices and a more sedentary lifestyle both before and during the pandemic, compared to the rest of the 2020 population.

Conclusions

The present findings corroborate the recently reported association between the complex lifestyle changes related to the lockdown and a higher incidence of CPP in Italian girls.

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