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Marenao Tanaka Department of Cardiovascular, Renal and Metabolic Medicine, Sapporo Medical University School of Medicine, Sapporo, Japan
Tanaka Medical Clinic, Yoichi, Japan

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Tomohito Gohda Department of Nephrology, Juntendo University Faculty of Medicine, Tokyo, Japan

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Nozomu Kamei Department of Endocrinology and Metabolism, Hiroshima Red Cross Hospital & Atomic-bomb Survivors Hospital, Hiroshima, Japan
Institute for Clinical Research, NHO Kure Medical Center and Chugoku Cancer Center, Hiroshima, Japan

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Maki Murakoshi Department of Nephrology, Juntendo University Faculty of Medicine, Tokyo, Japan

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Tatsuya Sato Department of Cardiovascular, Renal and Metabolic Medicine, Sapporo Medical University School of Medicine, Sapporo, Japan
Department of Cellular Physiology and Signal Transduction, Sapporo Medical University School of Medicine, Sapporo, Japan

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Mitsunobu Kubota Department of Endocrinology and Diabetology, NHO Kure Medical Center and Chugoku Cancer Center, Hiroshima, Japan

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Michiyoshi Sanuki Institute for Clinical Research, NHO Kure Medical Center and Chugoku Cancer Center, Hiroshima, Japan

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Erika Ishiwata Department of Cardiovascular, Renal and Metabolic Medicine, Sapporo Medical University School of Medicine, Sapporo, Japan

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Keisuke Endo Department of Cardiovascular, Renal and Metabolic Medicine, Sapporo Medical University School of Medicine, Sapporo, Japan

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Yusuke Suzuki Department of Nephrology, Juntendo University Faculty of Medicine, Tokyo, Japan

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Masato Furuhashi Department of Cardiovascular, Renal and Metabolic Medicine, Sapporo Medical University School of Medicine, Sapporo, Japan

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Background

Fatty acid-binding protein 4 (FABP4) is an adipokine that plays significant roles in the development of insulin resistance and atherosclerosis. High levels of soluble tumor necrosis factor receptors (TNFRs) including TNFR1 and TNFR2 are associated with renal dysfunction and increased mortality in patients with diabetes mellitus (DM). However, the association between circulating levels of FABP4 and TNFRs remains unclear.

Methods

We investigated the associations of FABP4 with TNFRs and metabolic markers in Japanese patients with type 1 DM (T1DM, n = 76, men/women: 31/45) and type 2 DM (T2DM, n = 575, men/women: 312/263).

Results

FABP4 concentration was positively correlated with levels of TNFR1 and TNFR2 in both patients with T1DM and those with T2DM. Multivariable regression analyses showed that there were independent associations of FABP4 concentration with body mass index (BMI) and estimated glomerular filtration rate (eGFR) after adjustment for age and sex in both patients with T1DM and those with T2DM. FABP4 concentration was independently associated with circulating levels of TNFR1 and TNFR2 after adjustment for the confounders in patients with T2DM but not in those with T1DM. Similarly, levels of TNFR1 and TNFR2 were independently associated with FABP4 concentration after adjustment for age, sex, systolic blood pressure, duration of DM and levels of eGFR, high-density lipoprotein cholesterol, and C-reactive protein in patients with T2DM but not in those with T1DM.

Conclusion

FABP4 concentration is independently associated with levels of TNFRs in patients with DM, but the association is more evident in patients with T2DM than in those with T1DM.

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Qian Ren Q Ren, Endocrinology and metabolism department, Peking University People's Hospital, Beijing, China

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Xueyao Han X Han, Endocrinology and Metabolism, Peking University People's Hospital, Beijing, China

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Siqian Gong S Gong, 1. Department of Endocrinology and Metabolism, Peking University People's Hospital, Beijing, China

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Simin Zhang S Zhang, Endocrinology and Metabolism, Peking University People's Hospital, Beijing, China

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Tianhao Ba T Ba, Endocrinology and metabolism department, Peking University People's Hospital, Beijing, China

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Yilin Zhao Y Zhao, Endocrinology and metabolism department, Peking University People's Hospital, Beijing, China

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Yating Li Y Li, Department of Endocrinology and Metabolism, Peking University Diabetes Center, Beijing, China

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Yanai Wang Y Wang, Endocrinology and metabolism department, Peking University People's Hospital, Beijing, China

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Xianghai Zhou X Zhou, Endocrinology and metabolism department, Peking University People's Hospital, Beijing, China

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Yufeng Li Y Li, Endocrinology and metabolism department, Peking University People's Hospital, Beijing, China

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Linong Ji L Ji, Endocrinology and metabolism department, Peking University People's Hospital, Beijing, China

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Objective: To test whether postprandial hypoglycaemia is an extreme and repeatable phenotype of glucose metabolism. Secondly, we explored the genetic determinants of this phenotype.

Design and methods: We conducted this study using data from Pinggu Metabolic Disease Study database (n = 3,345). We selected subjects after an oral glucose tolerance test (OGTT) (2 h, glucose <3 mmol/L_ and compared clinical features with those of normal glucose tolerance (NGT). We additionally selected 75 subjects as super-healthy control group. Whole-exome sequencing (WES) was performed on postprandial hypoglycaemic and super-healthy controls. We also evaluated several candidate genes believed to be important in pancreatic hypoglycaemia.

Results: We found 13 participants (0.39%) had an OGTT 2 h glucose <3 mmol/L. Ten patients were men (76.9%). All 13 participants had insulin > 3 uU/mL when postprandial blood glucose levels were <3 mmol/L. WES analysis identified one gene, paternally expressed 3 (PEG3), which had three rare mutations in four patients (30.8%). Minor allele frequencies (MAF) of rare PEG3 mutations were significantly higher in subjects with postprandial hypoglycaemia than in super-healthy controls. Among all four subjects with PEG3 gene mutations, 71.4% were men, and their body mass index (BMI) was significantly lower than that of the NGT.

Conclusions: Postprandial hypoglycaemia is an extreme and reproducible phenotype in the general population. PEG3 mutations may represent a potential genetic aetiology for postprandial hypoglycaemia. Further research with larger and more diverse populations and a broader genetic focus is needed to understand the genetic basis of postprandial hypoglycaemia.

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Danzhou Fang Department of Nuclear Medicine, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, China

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Shiying Li Department of Infectious Diseases, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, China

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Changgu Zhou Department of Infectious Diseases, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, China

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Yirui Wang Department of Nuclear Medicine, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, China

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Gengbiao Yuan Department of Nuclear Medicine, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, China

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HuiHui Zhang Department of Nuclear Medicine, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, China

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Maohua Rao Department of Nuclear Medicine, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, China

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Objective

Hyperthyroidism, a prevalent endocrine disorder, can lead to complications such as liver failure due to the liver's essential role in thyroid hormone metabolism. The study aimed to elucidate the respective contributions of 131I and/or ALSS in managing hyperthyroidism alongside liver failure.

Methods

A retrospective analysis was carried out on 74 patients diagnosed with severe liver failure in the context of Graves' disease. Patients were categorized into three groups: group A (n = 34) received 131I treatment, group B (n = 17) underwent 131I and ALSS treatment, and group C (n = 24) received artificial liver support system (ALSS) treatment alone.

Results

Throughout the treatment period, the liver function indexes in all groups exhibited a declining trend. The thyroid function of group A and group B treated with 131I was significantly improved compared to that before treatment. There was no significant change in thyroid function in group C. After the correction of hyperthyroidism, significant improvements were observed in the liver function of individuals in groups A and B, particularly with more noticeable amelioration compared to group C. After two months of treatment, the efficacy rates for the three groups were 79.41%, 82.35%, and 60.87% respectively. Mortality rates of the three groups were 5.88%, 17.65%, and 36% (P < 0.01). Group B, receiving both 131I and ALSS treatments, exhibited a lower mortality rate than group C.

Conclusion

In cases of severe liver failure accompanied by hyperthyroidism, prompt administration of 131I is recommended to alleviate the adverse effects of hyperthyroidism on liver function and facilitate a conducive environment for the recovery of liver functionality.

Open access
Salma R Ali Developmental Endocrinology Research Group, Royal Hospital for Children, University of Glasgow, Glasgow, UK
Office for Rare Conditions, University of Glasgow, Glasgow, UK

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Melissa Gardner Susan B Meister Child Health Evaluation and Research Center, Department of Pediatrics, University of Michigan Medical School, Ann Arbor, Michigan, USA

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Yiqiao Xin Health Economics and Health Technology Assessment, Institute of Health and Wellbeing, University of Glasgow, Glasgow, UK

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Stuart O’Toole Department of Paediatric Surgery, Royal Hospital for Children, Glasgow, UK

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Martyn Flett Department of Paediatric Surgery, Royal Hospital for Children, Glasgow, UK

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Boma Lee Department of Paediatric Surgery, Royal Hospital for Children, Glasgow, UK

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Mairi Steven Department of Paediatric Surgery, Royal Hospital for Children, Glasgow, UK

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David E Sandberg Susan B Meister Child Health Evaluation and Research Center, Department of Pediatrics, University of Michigan Medical School, Ann Arbor, Michigan, USA

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S Faisal Ahmed Developmental Endocrinology Research Group, Royal Hospital for Children, University of Glasgow, Glasgow, UK
Office for Rare Conditions, University of Glasgow, Glasgow, UK

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Background

There is a paucity of information on health-related quality of life (HRQoL) outcomes in parents and children with conditions affecting sex development. The objective of this study was to develop short forms of HRQoL questionnaires which consist of a 63-item and 25-item parent self-report (PSR) and parent proxy-report (PPR), respectively, optimizing use in routine clinical settings.

Methods

Short questionnaires were developed following exploratory factor analysis using raw data from 132 parents. Long and short PSRs were completed by 24 parents of children with conditions affecting sex development, with a median age of 3.6 years (range 0.1, 6.6); 21 (88%) were boys, and 11 (46%) had proximal hypospadias. A subset of 19 parents completed both long and short PPRs.

Results

Item selection, based on factor loadings of >0.8 and expert consultation, produced short PSRs and PPRs containing 16 and 7 items, respectively. There was no statistically significant difference in 11 out of 12 (92%) scales on the PSR and 4 out of 5 (80%) scales on the PPR when comparing short and long questionnaire scores. The short and long questionnaires took <1 min and 5 min to complete, respectively. Eighteen parents (75%) reported that the time taken to complete the short questionnaires was acceptable; 10 (42%) preferred short questionnaires. Ten (42%) versus 6 (25%) stated a preference for completing the short versus long questionnaires.

Conclusion

The short versions were largely representative of the long questionnaires and are acceptable for evaluating psychosocial distress in young children and their caregivers. Further psychometric validation of the short forms is warranted.

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Theodoros Karampitsakos Third Department of Obstetrics and Gynecology, ATTIKON University Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece
Unit of Endocrinology, Diabetes Mellitus and Metabolism, ARETAIEION University Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece

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Fotini Kanouta Unit of Endocrinology, Diabetes Mellitus and Metabolism, First Department of Obstetrics and Gynecology, ALEXANDRA University Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece
Unit of Endocrinology, Diabetes Mellitus and Metabolism, ARETAIEION University Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece

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Christos Chatzakis Second Department of Obstetrics and Gynecology, IPPOKRATEIO General Hospital of Thessaloniki, Aristotle, University of Thessaloniki, Athens, Greece

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Vassilios Bakoulas Athens, Greece

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Alexandros Gryparis Department of Speech and Language Therapy, University of Ioannina, Ioannina, Greece
Unit of Endocrinology, Diabetes Mellitus and Metabolism, ARETAIEION University Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece

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Petros Drakakis Third Department of Obstetrics and Gynecology, ATTIKON University Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece

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Djuro Macut Department of Endocrinology, Diabetes and Diseases of Metabolism, Faculty of Medicine, University of Belgrade, Belgrade, Serbia
Unit of Endocrinology, Diabetes Mellitus and Metabolism, ARETAIEION University Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece

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George Mastorakos Unit of Endocrinology, Diabetes Mellitus and Metabolism, ARETAIEION University Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece

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Introduction

To investigate whether synthetic (s) glucocorticoids (GCs) administered between the 24th and the 34th gestational weeks in pre-term labor might precipitate labor, studies on sGCs administration were reviewed. The physiology of endogenous glucocorticoid-related increase in fetal–maternal circulation and its association with labor, followed by a scoping review of studies on exogenous sGCs administered for fetal lung maturation and the timing of labor, were included.

Materials and methods

The methodology of systematic reviews was followed. MEDLINE, Cochrane Library, and Google Scholar databases were searched until October 2023, for original studies investigating the administration of sGCs in pregnancies risking pre-term labor. Duplicates were removed, and 1867 abstracts were excluded as irrelevant. Six controlled and four non-controlled studies were included. The index group consisted of 6001 subjects and 7691 controls in the former, while in the latter, the index group consisted of 2069 subjects.

Results

In three out of the six controlled studies, gestational age at labor was significantly lower in sGC-treated women than in controls, while in three studies, gestational age at labor was lower in sGC-treated women than in controls, with a trend toward statistical significance. In one study, gestational age at labor was significantly lower in controls than in sGC-treated women. In the non-controlled studies, the majority of women delivered less than 1 week from the day of sGC administration.

Conclusions

In this scoping review, studies lack homogeneity. However, in the controlled studies, a pattern of earlier labor emerges among sGC-treated pregnant women. The use of multiple courses of antenatal sGCs appears to be associated with precipitated labor. Their use should be carefully weighed. Carefully designed trials should examine this ongoing scientific query.

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Yi Wang Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, Beijing, China
National Center for Children’s Health, Beijing, China

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Yingying Xu Department of Pediatrics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China

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Rongrong Xie Department of Endocrinology, Children’s Hospital of Soochow University, Suzhou, China

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Bingyan Cao Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, Beijing, China
National Center for Children’s Health, Beijing, China

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Yuan Ding Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, Beijing, China
National Center for Children’s Health, Beijing, China

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Jiayun Guo Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, Beijing, China
National Center for Children’s Health, Beijing, China

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Xiaoqiao Li Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, Beijing, China
National Center for Children’s Health, Beijing, China

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Xiaolin Ni Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, Beijing, China
National Center for Children’s Health, Beijing, China

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Zheng Yuan Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, Beijing, China
National Center for Children’s Health, Beijing, China

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Linqi Chen Department of Endocrinology, Children’s Hospital of Soochow University, Suzhou, China

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Liyang Liang Department of Pediatrics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China

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Chunxiu Gong Department of Endocrinology, Genetics and Metabolism, Beijing Children’s Hospital, Capital Medical University, Beijing, China
National Center for Children’s Health, Beijing, China

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Objective

Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) is rare, and manifestations of autonomic dysregulation are diverse and may be overlooked. We aimed to evaluate the incidence of these manifestations.

Methods

Patients with ROHHAD syndrome reported before and after 2019 were divided into groups 1 and 2. Patients who were diagnosed at three regional hospitals in China were included in group 3. We collected the age of each specific term of the ROHHAD (neurogenic tumor, NET) acronym and the detailed manifestations of each term, and compared them among the three groups.

Results

A total of 16 patients were diagnosed within the 2-year period. Two had neurogenic tumors and cognitive and behavioral abnormalities before developing rapid obesity. At least 93.8% of the patients had ≥ 4 symptoms of autonomic dysregulation. When comparing autonomic dysregulation among groups 1–3, the rates of cardiovascular manifestations were NA vs 12.8% vs 81.2%; gastrointestinal disturbances were 11.4% vs 8.5% vs 62.5%; strabismus was 25.7% vs 12.8% vs 62.5%; sleep disturbance was NA vs 6.4% vs 50.0%; and abnormal pain threshold was NA vs 10.6% vs 25.0% (all P < 0.05). The rates of cognitive and behavioral abnormalities were NA vs 29.8% and 87.5% (P < 0.01).

Conclusion

Rapid-onset obesity is not always the first sign of ROHHAD syndrome. Higher rates of autonomic dysregulation and cognitive and behavioral abnormalities with multiple manifestations of autonomic dysregulation coexisted in our cohort, indicating that evaluations of autonomic function and the limbic system should be strengthened when assessing this condition.

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Laura Hasse Department of Pediatric Dermatology and Allergology, Children’s Hospital Auf der Bult, Hannover, Germany

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Dagmar Jamiolkowski Department of Pediatric Dermatology and Allergology, Children’s Hospital Auf der Bult, Hannover, Germany

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Felix Reschke Department of Pediatric Diabetology, Children’s Hospital Auf der Bult, Hannover, Germany

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Kerstin Kapitzke Department of Pediatric Diabetology, Children’s Hospital Auf der Bult, Hannover, Germany

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Jantje Weiskorn Department of Pediatric Diabetology, Children’s Hospital Auf der Bult, Hannover, Germany

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Olga Kordonouri Department of Pediatric Diabetology, Children’s Hospital Auf der Bult, Hannover, Germany

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Torben Biester Department of Pediatric Diabetology, Children’s Hospital Auf der Bult, Hannover, Germany

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Hagen Ott Department of Pediatric Dermatology and Allergology, Children’s Hospital Auf der Bult, Hannover, Germany

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Nishchil Patel Department of Endocrinology, University Hospital Plymouth, UK

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Kagabo Hirwa Department of Endocrinology, University Hospital Plymouth, UK

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Gemma Gardner Department of Endocrinology, University Hospital Plymouth, UK

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Kirsten Pearce Department of Endocrinology, University Hospital Plymouth, UK

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Jinny Jeffery Department of Endocrinology, University Hospital Plymouth, UK

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Fizzah Iqbal Department of Endocrinology, University Hospital Plymouth, UK

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Daniel Flanagan Department of Endocrinology, University Hospital Plymouth, UK

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Introduction

The aim of this study was to define functional and anatomical pituitary disease at the time of presentation following immune checkpoint inhibitor (ICI) therapy and to describe any changes in pituitary function over time.

Methods

We conducted a retrospective observational audit of patients on ICI therapy at our centre between January 2013 and September 2023. We reviewed all patients on ICI therapy under the care of the oncology department at University Hospital Plymouth, a 1000-bedded hospital serving a population of 500,000 people. From this group, we identified all individuals referred to the endocrinology department with a suspected diagnosis of adrenal insufficiency. Patients were established on adrenal steroid replacement and subsequently underwent formal pituitary testing. People were included if they had pituitary disease, as evidenced by low ACTH, other pituitary dysfunction and/or abnormalities on pituitary imaging.

Results

Nine hundred and fifty-four patients received ICI therapy during the study period, and 37 (a prevalence of 3.9%) developed hypothalamic–pituitary–adrenal axis dysfunction. Their mean age was 65 years, and 70% were male. About 86.5% of the total patients affected were treated for metastatic malignancies. Ten of the 37 patients died during follow-up as a direct consequence or complication of their primary cancer diagnosis. The median interval for the onset of symptoms was 4 months. Following repeated testing, there was no recovery in cortisol or ACTH levels for any individual. Other permanent anterior pituitary hormone defects were unusual. Hypophysitis associated with immunotherapy appears to specifically target the corticotrophs, with no evidence of recovery over time. There was a specific abnormality seen in MRI scans of 7 of 27 patients who had scans, which appeared to be a particular feature of immune-mediated hypophysitis. These were confined to the anterior aspect of the pituitary gland, appearing as striations, and were not visible on any of the scans performed more than 3 months after the likely onset of the disease.

Conclusion

These data show that immune-related hypophysitis is a common complication of immune checkpoint inhibitor therapy. This may result in an imaging abnormality within the areas of the pituitary that are richest in corticotrophs. The endocrine consequence of this is a permanent defect in ACTH and, therefore, cortisol production.

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Hana Vítková Third Department of Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic

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Kateřina Anderlová Third Department of Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic
Department of Gynaecology, Obstetrics and Neonatology, First Faculty of Medicine Charles University and General University Hospital in Prague, Prague, Czech Republic

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Jan Krátký Third Department of Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic

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Radovan Bílek Institute of Endocrinology, Prague, Czech Republic

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Drahomíra Springer Institute of Clinical Biochemistry and Laboratory Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic

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Felix Votava Department of Children and Adolescents, Third Faculty of Medicine, Charles University and University Hospital Kralovske Vinohrady, Prague, Czech Republic

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Tomáš Brutvan Third Department of Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic

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Adéla Krausová Third Department of Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic

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Kristýna Žabková Third Department of Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic

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Eliška Potluková University Center of Internal Medicine, Cantonal Hospital Baselland and University of Basel, Switzerland

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Jan Jiskra Third Department of Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic

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Introduction

Maternal urinary iodine concentration and blood neonatal thyroid-stimulating hormone (TSH) concentration reflect iodine status in pregnancy and serve as markers of iodine deficiency. As dietary measures in gestational diabetes mellitus (GDM) could affect iodine intake, our study aimed to investigate iodine supply in women with GDM compared to healthy pregnant women and to evaluate its relationship to maternal and neonatal thyroid function.

Methods

Urinary iodine concentration (UIC) and serum TSH, free thyroxine (FT4), and autoantibodies against thyroid peroxidase (TPOAb) were analyzed in 195 women with GDM and 88 healthy pregnant women in the second trimester. Subsequently, neonatal TSH concentrations measured 72 h after delivery in a subgroup of 154 newborns (115 of mothers with GDM and 39 controls) from the national register were analyzed.

Results

Median UIC was significantly lower in women with GDM compared to controls (89.50 µg/L vs. 150.05 µg/L; P < 0.001). Optimal iodine intake was found only in nine women with GDM (4.6%) and 33 healthy pregnant women (37.5%) (P < 0.001). Most pregnant women with GDM (88.7%) compared to one half of controls (50%) had iodine deficiency (P < 0.001). Although serum TSH and the prevalence of hypothyroidism (TSH > 4.0 mIU/L) were not different in both groups, hypothyroxinaemia was more prevalent in GDM compared to controls (12.3% vs 3.4%, P = 0.032). Consistently, neonatal TSH > 5.0 mIU/L indicating iodine deficiency, was found in 6 (5.2%) newborns of women with GDM as compared to none in controls. In women with GDM, the prevalence of perinatal complications was significantly lower in those who were taking dietary iodine supplements compared to those who were not (3/39 (7.69%) vs 46/156 (28.85%), P <0.001). In the multiple logistic and linear regression models in women with GDM, hypothyroxinaemia was associated with preterm births, and a negative association of serum FT4 and HbA1c was found.

Conclusion

Iodine deficiency in pregnancy was more prevalent among women with GDM compared to healthy pregnant controls. Serum FT4 negatively correlated with HbA1c, and hypothyroxinaemia was associated with preterm births in women with GDM. Conversely, women with GDM who used dietary iodine supplements had a lower risk of perinatal complications.

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Rohit Barnabas Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India

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Swati Jadhav Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Centre, Bengaluru, India

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Anurag Ranjan Lila Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India

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Sirisha Kusuma Boddu Consultant Pediatric Endocrinology & Diabetes, Rainbow Children’s Hospital, Hyderabad, India

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Saba Samad Memon Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India

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Sneha Arya Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India

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Samiksha Chandrashekhar Hegishte Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India

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Manjiri Karlekar Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India

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Virendra A Patil Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India

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Vijaya Sarathi Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Centre, Bengaluru, India

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Nalini S Shah Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India

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Tushar Bandgar Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India

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Background

The data on Leydig cell hypoplasia (LCH) resulting from biallelic Luteinizing hormone/chorionic gonadotropin receptor (LHCGR) inactivating variants is limited to case series.

Methods

We aim to describe our patients and perform systematic review of the patients with LHCGR inactivating variants in the literature. Detailed phenotype and genotype data of three patients from our centre and 85 (46,XY: 67; 46,XX: 18) patients from 59 families with LHCGR-inactivating variants from literature were described.

Results

Three 46,XY patients (age 6–18 years) from our center, with two reared as females, had two novel variants in LHCGR. Systematic review (including our patients) revealed 72 variants in 88 patients. 46,XY patients (n = 70, 56 raised as females) presented with pubertal delay (n = 41) or atypical genitalia (n = 17). Sinnecker score ≥3 (suggesting antenatal human chorionic gonadotropin (hCG) inaction) was seen in 80% (56/70), and hCG-stimulated testosterone was low (<1.1 ng/mL) in 77.4% (24/31), whereas puberty/postpubertal age, high luteinizing hormone (LH) (97.6%, 41/42) and low (<1.0 ng/mL) basal testosterone (94.9%, 37/39) was observed in most. Follicle stimulating hormone was elevated in 21/51 of these patients. Variants with <10% receptor function were exclusively seen in cohorts with Sinnecker 4/5 (10/15 vs 0/5, P = 0.033). 46,XX patients (n = 18) presented with oligo/amenorrhea and/or anovulatory infertility and had polycystic ovaries (7/9) with median LH of 10 IU/L (1.2–38).

Conclusion

In summary, this study comprehensively characterizes LHCGR variants, revealing genotype-phenotype correlations and informing clinical management of LCH. In 46,XY LCH patients, pubertal LH inaction is uniform with variable severity of antenatal hCG inaction. Few mutant LHCGR have differential actions for LH and hCG.

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