TouchREVIEWS in endocrinology最新文献

Pituitary tumours (PTs) are the second most common intracranial tumour. Although the majority show benign behaviour, they may exert aggressive behaviour and can be resistant to treatment. The aim of this review is to report the recently identified biomarkers that might have possible prognostic value. Studies evaluating potentially prognostic biomarkers or a therapeutic target in invasive/recurrent PTs compared with either non-invasive or non-recurrent PTs or normal pituitaries are included in this review. In the 28 included studies, more than 911 PTs were evaluated. A systematic search identified the expression of a number of biomarkers that may be positively correlated with disease recurrence or invasion in PT, grouped according to role: (1) insensitivity to anti-growth signals: minichromosome maintenance protein 7; (2) evasion of the immune system: cyclooxygenase 2, arginase 1, programmed cell death protein 1 (PD-1)/programmed death ligand 2, cluster of differentiation (CD) 80/CD86; (3) sustained angiogenesis: endothelial cell-specific molecule, fibroblast growth factor receptor, matrix metalloproteinase 9, pituitary tumour transforming gene; (4) self-sufficiency in growth signals: epidermal growth factor receptor; and (5) tissue invasion: matrix metalloproteinase 9, fascin protein. Biomarkers with a negative correlation with disease recurrence or invasion include: (1) insensitivity to anti-growth signals: transforming growth factor β1, Smad proteins; (2) sustained angiogenesis: tissue inhibitor of metalloproteinase 1; (3) tissue invasion: Wnt inhibitory factor 1; and (4) miscellaneous: co-expression of glial fibrillary acidic protein and cytokeratin, and oestrogen receptors α36 and α66. PD-1/programmed cell death ligand 1 showed no clear association with invasion or recurrence, while cyclin A, cytotoxic T lymphocyte-associated protein 4, S100 protein, ephrin receptor, galectin-3 , neural cell adhesion molecule, protein tyrosine phosphatase 4A3 and steroidogenic factor 1 had no association with invasion or recurrence of PT. With the aim to develop a more personalized approach to the treatment of PT, and because of the limited number of molecular targets currently studied in the context of recurrent PT and invasion, a better understanding of the most relevant of these biomarkers by well-d esigned interventional studies will lead to a better understanding of the molecular profile of PT. This should also meet the increased need of treatable molecular targets.

Van Wyk-Grumbach syndrome is a rare, female juvenile hypothyroidism disorder that is characterized by precocious puberty with clinical, radiological and hormonal pathologies. We present a case series of three patients with this unusual condition who were evaluated and followed up over a 3-year period between January 2017 and June 2020. All three patients presented with short stature (<3rd centile), low weight (<3rd centile), absence of goitre, no axillary or pubic hair, delayed bone age by more than 2 years, elevated thyroid-stimulating hormone with low T3 and T4 (primary hypothyroidism), and raised follicle-stimulating hormone with pre-pubertal levels of luteinizing hormone. Abdominal ultrasonography showed bilateral multi-cystic ovaries in two patients and a right-sided bulky ovary in the third patient. One of the patients also had a pituitary 'macroadenoma'. All the patients were successfully managed with levothyroxine. We discuss the pathophysiological mechanisms with a brief literature review.

Thyroid hormones, mainly triiodothyronine, have genomic and non-genomic effects on cardiomyocytes related to the contractile function of the heart. Thyrotoxicosis, which is the set of signs and symptoms derived from the excess of circulating thyroid hormones, leads to increased cardiac output and decreased systemic vascular resistance, increasing the volume of circulating blood and causing systolic hypertension. In addition, the shortening of the refractory period of cardiomyocytes produces sinus tachycardia and atrial fibrillation. This leads to heart failure. Approximately 1% of patients with thyrotoxicosis develop thyrotoxic cardiomyopathy, a rare but potentially fatal form of dilated cardiomyopathy. Thyrotoxic cardiomyopathy represents a diagnosis of exclusion, and prompt identification is crucial as it is a reversible cause of heart failure, and heart function can be recovered after achieving a euthyroid state using antithyroid drugs. Radioactive iodine therapy and surgery are not the best initial therapeutic approach. Moreover, it is important to manage cardiovascular symptoms, for which beta blockers are the first-line therapeutic option.

Urothelial cancer is a common neoplasm and metastatic disease correlates with a poor prognosis. Isolated adrenal gland metastases of urothelial carcinoma are quite rare, and management options can decide a patient's prognosis. Herein we report the case of a 76-year-old man with a metachronous solitary adrenal metastasis from a bladder carcinoma, who underwent adrenalectomy as part of his treatment. Furthermore, we discuss the cases of solitary adrenal metastases of urothelial carcinoma available in the literature, to identify key features to direct appropriate treatment of this rare metastatic site of urothelial cancer and improve prognosis and survival. Still, further prospective studies are needed to design effective therapeutic strategies.

Thyrolipomatosis, a diffuse non-neoplastic infiltration of fatty tissue in the thyroid gland, is an extremely rare condition with only about 30 cases reported worldwide. A few of these cases report the concurrency of thyrolipomatosis and malignant neoplasms in the thyroid or colon, but never with tongue cancer. A 44-year-old female patient with an infiltrative tongue mass suggestive of carcinoma presented for an outpatient consultation. Cervical imaging revealed multiple lymphadenopathies and a multinodular goitre with diffuse fatty infiltration, suggestive of thyrolipomatosis. Surgical intervention included partial resection of the tongue and thyroid (left hemiglossectomy and right hemithyroidectomy, respectively) and lymphadenectomy. The thyroid specimen showed diffuse fat metaplasia of the stromal thyroid tissue, confirming incidental thyrolipomatosis. During post-operative follow-up, the patient presented with recurrence of squamous cell carcinoma as indicated by new right-sided thyroid nodules, left-sided lymphadenopathies with confirmatory biopsy, and a growing neck mass that became infected. The patient developed septic shock and later died. Thyrolipomatosis causes thyroid swelling and can be clinically detected as goitres or as an incidental finding. Diagnosis is suggested by cervical imaging (ultrasonography, computed tomography or magnetic resonance), but confirmation is histological after thyroidectomy. Although thyrolipomatosis is benign, it could develop concurrently with neoplastic diseases, especially on embryologically related tissues (e.g. thyroid and tongue). This case report is the first in the literature describing the coexistence between thyrolipomatosis and tongue cancer in an adult Peruvian patient.

The American Association of Clinical Endocrinology (AACE) 2022 guideline provides comprehensive and evidence-based guidance on contemporary diabetes management. The statement reiterates the importance of person-centred, team-based care for optimum outcomes. The recent strides to prevent cardiovascular and renal complications have been aptly incorporated. The recommendations on virtual care, continuous glucose monitors, cancer screening, infertility and mental health are relevant. However, focused discussions on non-alcoholic fatty liver disease and geriatric diabetes care could have been helpful. Outlining targets for prediabetes care is a notable addition and is likely to be the most effective strategy in addressing the rising burden of diabetes.

Diabetes is the ninth leading cause of death, directly accounting for 1.5 million deaths annually worldwide. Despite several breakthrough discoveries, little progress has been made in type 2 diabetes outcomes over the past 100 years. Younger age (below 60 years), a diet high in calories and processed food, and severe obesity (body mass index >35 kg/m²) may identify reversible beta cell dysfunction. Much of the clinical presentation pertains to flooding the body's adaptive limits with overnutrition. Recognizing this as a global societal trend brought about by lifestyle changes, sedentary work, mental stress and unlimited access to calorie-dense foods is crucial. Insulin resistance and genetic abnormalities cannot account for the dramatic increase in diabetes, from only 1% five decades ago to nearly 10% today. Obesity - and not insulin resistance - is at the core of the problem. As well as hyperglycaemia, end-organ damage can also be reversed with diet and weight loss in many affected individuals. We present the evolution of our understanding and compelling reasons to reframe diabetes in the severely obese to what it really is - overweight hyperglycaemia. This may shift societal perception, governmental funding, workplace reformations and individual engagement with healthy lifestyles. The objective of this review is to better understand global trends and the potential to improve outcomes by reframing the diabetes narrative towards remission. This may shift societal perception, governmental funding, workplace reformations and individual engagement with healthy lifestyles.

As age increases, adipose tissue infiltrates muscle tissue and leads to sarcopenia. When excessive accumulation of adipose tissue accompanied progressive decrease in lean body mass especially visceral fat, termed as sarcopenic obesity (SO) and related metabolic intermuscular adipose tissue (IMAT) is an ectopic tissue found between muscle groups, and is distinct from subcutaneous adipose tissue. Until now, the association between IMAT and metabolic health was not understood. This study is the first systematic review assessing the association between IMAT and metabolic health. The PubMed, Science Direct and Cochrane databases were searched for studies reporting IMAT and metabolic risk. The descriptions of the extracted data are guided by the Preferred Reporting Items for Systematic Reviews (PRISMA) statement with a Grading of Recommendations Assessment, Development and Evaluation approach. This study is registered at PROSPERO (identifier: CRD42022337518). Six studies were pooled and reviewed using critical appraisal by the Newcastle Ottawa Scale and Centre for Evidence-Based Medicine checklist. Two clinical trials and four observational trials were included. Our results reveal that IMAT is associated with metabolic risk, especially in older adults and patients with obesity. However, in a person with abdominal obesity, VAT has a more significant role in metabolic risk than IMAT. The largest decrease in IMAT was achieved by combining aerobic with resistance training.

The prevalence of type 2 diabetes mellitus (T2DM) is steadily rising worldwide due to an increasingly sedentary lifestyle combined with unhealthy food habits. Currently, the burden of diabetes on healthcare systems is unprecedented and rising daily. Several observational studies and randomized controlled trials provide clinical evidence that T2DM remission is possible by adopting dietary interventions and a strict exercise training protocol. Notably, these studies provide ample evidence for remission in patients with T2DM or for prevention in those with risk factors for the disease through various non-pharmacological behavioural interventions. In this article, we present two clinical cases of individuals who showed remission from T2DM/prediabetes via behavioural changes, especially through the adoption of a low-energy diet and exercise. We also discuss the recent advances in T2DM and obesity research, focusing on nutritional interventions and exercise and their benefits for weight loss, improved metabolic profile, enhanced glycaemic control and remission of diabetes.

Background: Type 2 diabetes mellitus (T2DM) is a severe public health issue notably impacting human life and health expenditure. It has been observed in literature that intermittent fasting (IF) addresses diabetes and its underlying cause, which benefits people with diabetes. Therefore, this study aimed to evaluate the effectiveness of IF treatment on glycaemic control in people with T2DM compared with control group. Methods: Systematic review and meta-analysis of interventional studies among patients with T2DM with glycated haemoglobin (HbA1c) as an outcome was performed. A comprehensive search of electronic databases, including PubMed, Embase and Google Scholar, for articles published before 24 April 2022, was done. Studies reporting 24 hours of complete fasting or intermittent restricted energy intake (feeding permitted for only 4-8 hours daily, with 16-20 hours of fasting) and reporting changes in HbA1c and fasting glucose levels were eligible. Meta-analysis was performed using Cochrane's Q statistic and the I² statistical approach. Results: Eleven studies (13 arms) measuring the effect of IF on patients' HbA1c level were analysed. There was no statistically significant difference between IF and control groups (Standardized mean difference [SMD] -0.08, 95% confidence interval [CI] -0.20 to 0.04;p=0.19, I²=22%). Overall, seven studies on patients' fasting blood glucose were analysed, and the meta-analysis revealed no significant difference between the two groups i.e. IF and control groups (SMD 0.06, 95% CI -0.25 to 0.38;p=0.69, I²=76%). Conclusion: IF and usual diet pattern have no difference in terms of glycaemic control. Although, IF may be used as a preventative diet pattern in the pre-diabetic population, as it works well in the long-term to achieve controlled sugar levels. Study registration: The protocol of this study was registered in The International Prospective Register of Systematic Reviews (PROSPERO) with a registration number CRD42022328528.