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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.

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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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Kunzhe Lin Department of Neurosurgery, Affiliated Fuzhou First Hospital of Fujian Medical University, Fuzhou, China
Fuzong Clinical Medical College of Fujian Medical University, Fuzhou, China

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Lingling Lu Fuzong Clinical Medical College of Fujian Medical University, Fuzhou, China

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Zhijie Pei Fuzong Clinical Medical College of Fujian Medical University, Fuzhou, China

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Shuwen Mu Fuzong Clinical Medical College of Fujian Medical University, Fuzhou, China

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Shaokuan Huang Department of Neurosurgery, Guiqian International General Hospital, Guiyang, China

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Shousen Wang Fuzong Clinical Medical College of Fujian Medical University, Fuzhou, China
Department of Neurosurgery, 900th Hospital, Fuzhou, China

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Objective

The aim of this study was to evaluate the incidence and duration of delayed hyponatremia and to assess the factors influencing the development of delayed hyponatremia after transsphenoidal surgery (TSS) in pituitary adenomas.

Methods

We retrospectively analyzed the clinical data of patients with pituitary adenoma who underwent TSS. Univariable and multivariable statistics were carried out to identify factors independently associated with the occurrence of delayed hyponatremia.

Results

Of the 285 patients with pituitary adenoma who underwent microscopic TSS, 44 (15.4%) developed postoperative-delayed hyponatremia and 241 (84.6%) did not. The onset of delayed hyponatremia occurred an average of 5.84 days post-surgery and persisted for an average of 5.36 days. Logistic regression analysis showed the highest risk of delayed hyponatremia in patients with significant change in tumor cavity height (odds ratio (OR), 1.158; 95% CI, 1.062, 1.262; P = 0.001), preoperative hypothalamus–pituitary–thyroid axis hypofunction (OR, 3.112; 95% CI, 1.481, 6.539; P = 0.003), and significant difference in blood sodium levels before and 2 days after TSS (OR, 1.101; 95% CI, 1.005, 1.206; P = 0.039).

Conclusions

Preoperative hypothyroidism, difference in blood sodium levels before and 2 days after TSS, and the change in tumor cavity height after TSS played important roles in predicting postoperative-delayed hyponatremia onset in patients with pituitary adenomas.

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Marcus Heldmann Department of Neurology, University of Lübeck, Lübeck, Germany
Department of Psychology II, University of Lübeck, Lübeck, Germany

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Krishna Chatterjee Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, UK

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Carla Moran Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge, Cambridge, UK

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Berenike Rogge Department of Neurology, University of Lübeck, Lübeck, Germany

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Julia Steinhardt Department of Neurology, University of Lübeck, Lübeck, Germany

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Tobias Wagner-Altendorf Department of Neurology, University of Lübeck, Lübeck, Germany

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Martin Göttlich Department of Neurology, University of Lübeck, Lübeck, Germany

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Hannes Schacht Department of Neuroradiology, University of Lübeck, Lübeck, Germany

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Peter Schramm Department of Neuroradiology, University of Lübeck, Lübeck, Germany

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Georg Brabant Department of Internal Medicine I, University of Lübeck, Lübeck, Germany
Department of Endocrinology, The Christie, University of Manchester, Manchester, UK

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Thomas F Münte Department of Neurology, University of Lübeck, Lübeck, Germany
Department of Psychology II, University of Lübeck, Lübeck, Germany

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Anna Cirkel Department of Neurology, University of Lübeck, Lübeck, Germany

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Background

Thyroid hormone action is mediated by two forms of thyroid hormone receptors (α, β) with differential tissue distribution. Thyroid hormone receptor β (TRβ) mutations lead to resistance to thyroid hormone action in tissues predominantly expressing the β form of the receptor (pituitary, liver). This study seeks to identify the effects of mutant TRβ on pituitary size.

Methods

High-resolution 3D T1-weighted magnetic resonance images were acquired in 19 patients with RTHβ in comparison to 19 healthy matched controls. Volumetric measurements of the pituitary gland were performed independently and blinded by four different raters (two neuroradiologists, one neurologist, one neuroscientist).

Results

Patients with mutant TRβ (resistance to thyroid hormone β, RTHβ) showed elevated free tri-iodothyronine/thyroxine levels with normal thyroid-stimulating hormone levels, whereas healthy controls showed normal thyroid hormone levels. Imaging revealed smaller pituitary size in RTHβ patients in comparison to healthy controls (F(1,35) = 7.05, P  = 0.012, partial η2 = 0.17).

Conclusion

RTHβ subjects have impaired sensitivity to thyroid hormones, along with decreased size of the pituitary gland.

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