Reviews in Endocrine & Metabolic Disorders最新文献

Metabolic diseases, cardiovascular diseases (CVD), and chronic kidney disease (CKD) often coexist. To understand the complex relationships between these conditions, the American Heart Association first proposed the concept of cardiovascular-kidney-metabolic (CKM) syndrome in 2023. This syndrome is recognized by pathophysiological interplays among metabolic risk factors, CKD, and CVD, which results in multi-organ disorders and increased adverse cardiovascular outcomes. The core effect of the liver in metabolism has been revealed gradually. Sharing extensive overlapping pathological mechanisms with metabolic syndrome (MS), metabolic dysfunction-associated steatotic liver disease (MASLD) is the hepatic component of MS. The risk of developing CVD and CKD is considerably elevated in patients with MASLD. Therefore, from the perspective of endocrinologists, the concept of metabolic associated liver-cardiovascular-kidney syndrome (MALCKS) more accurately describes the impairment to vital organs caused by metabolic abnormalities. By examining the implications of CKM syndrome and its relationship with MASLD, this article elucidates the mechanisms linking MASLD to metabolic syndrome and cardiorenal diseases, and demonstrates that MASLD is associated with cardiovascular, renal, and endocrine metabolic disorders, thereby expanding the concept of CKM syndrome to MALCKS. Furthermore, multidisciplinary managements under the MALCKS framework are advocated to improve patient prognosis. Nevertheless, its formal adoption as a clinical syndrome will require clear operational definitions, validation through robust cohort studies, demonstration of unique clinical utility, and multidisciplinary consensus.

Vitamin D is an essential pro-hormone that helps to regulate mineral metabolism and skeletal health. Epidemiological data suggest that many individuals have insufficient serum levels of 25-hydroxy vitamin D, the marker of vitamin D status, for most of the year. Recognition of this observation has led to replacement regimens for vitamin D that have often led to its overuse even in disorders not related to bone homeostasis. Since vitamin D toxicity is rare, safety issues related to vitamin D supplementation have not been carefully addressed recently. Overall safety issues related to administration of vitamin D pro-hormones from nutritional sources and from supplements are reviewed, along with recommendations for correct intakes. Traditional and new areas in which an improper use of vitamin D may occur are specifically addressed. Supplementation with vitamin D pro-hormones is effective and safe at usual daily, weekly or monthly doses that are recommended to maintain optimal mineral homeostasis. Monitoring is generally not mandatory once the desired level of serum 25(OH)D is obtained. However, clinical circumstances often change from year to year, in which cases confirmation of the adequacy of 25(OH)D is reasonable. When calcidiol is used, long term, monitoring is expected. Ingestion of excessive amounts of vitamin D, either through overprescribing or overdosing, is potentially harmful.

This systematic review and meta-analysis aimed to investigate the impact of clinical hypothyroidism (CH) and subclinical hypothyroidism (SCH) on anthropometric parameters, such as body mass index (BMI), body weight (BW), waist circumference (WC), Hip Circumference (HC), Waist Circumference (WC) and Waist-Hip ratio (W/H). Databases including PubMed, Web of Science, Scopus, and EMBASE were searched for observational studies on hypothyroidism and body composition. The review included 38 studies (54 comparison groups, 49,427 individuals). Effect sizes (ES) with 95% confidence intervals (CI) were used to measure the effects of CH and SCH on body composition compared to healthy controls and between themselves. Effect sizes were defined as negligible (< 0.2), small (0.20-0.49), moderate (0.50-0.79), and large (> 0.8). CH showed large increases in BMI (ES = 1.092; CI: 0.755, 1.429) and BW (ES = 0.897; CI: 0.404, 1.389), and moderate increases in WC (ES = 0.759; CI: 0.419, 1.099) and fat mass (ES = 0.609; CI: 0.051, 1.167). SCH showed moderate increases in BMI (ES = 0.596; CI: 0.403, 0.789) and BW (ES = 0.712; CI: 0.287, 1.138), a small increase in WC (ES = 0.298; CI: 0.141, 0.454), with negligible fat mass changes (ES=-0.055; CI: - 0.760, 0.649). Analysis of SCH by thyroid-stimulating hormone (TSH) levels revealed greater impacts on body composition with increasing TSH. In turn, BMI (ES=-0.082; CI: - 0.577, 0.413) and BW (ES = 0.054; CI: - 0.441, 0.550) showed no significant changes at near-normal TSH (4.0-4.9 mIU/L). Moderate TSH elevation (5.0-10.0 mIU/L) led to moderate increases in BMI (ES = 0.584; CI: 0.343, 0.825) and BW (ES = 0.659; CI: 0.245, 1.073), with a small WC increase (ES = 0.271; CI: 0.077,0.465). TSH > 10.0 mIU/L resulted in large increases in BMI (ES = 1.426; CI: 0.614, 2.238) and BW (ES = 1.942; CI: 1.550, 2.334), along with a small WC increase (ES = 0.271; CI: 0.077, 0.465). The comparison regarding BMI, WC and BW showed no differences between CH and SCH. Both CH and SCH are associated with changes in body composition, mainly BMI, WC, and BW, which may contribute to metabolic risk. Body composition worsens in SCH as TSH levels rise, and stronger effects are evidenced in females and symptomatic individuals.

Hyperphagia is a hallmark of both congenital and acquired rare melanocortin-4 receptor (MC4R) pathway diseases. Currently, the medical community has no standard treatment guidelines or approach to establishing treatment benefit. This narrative review discusses current understandings of the pathophysiology, burden, and treatment of hyperphagia and summarizes findings from a systematic literature review of validated instruments for assessing the response to hyperphagia treatment. Hyperphagia can result from dysfunction within, or damage impacting, hypothalamic pathways including the MC4R pathway, a key regulator of energy balance. The burden of hyperphagia is substantial, with negative effects experienced across physiologic, emotional, and social domains. Approaches for hyperphagia management include environmental control, lifestyle intervention, pharmacotherapy, neurocognitive approaches, and neurostimulation. There are varied approaches to determine treatment response; however, standard methodology has not been determined and largely relies on questionnaires. Studies of rare MC4R pathway diseases have improved understanding of the etiology of hyperphagia and established the need for indication-specific treatment. Targeted treatments are limited, and methods for determining treatment efficacy are varied. There is a need for consensus guidelines to establish a standard approach for the management of hyperphagia and related assessment of treatment response to improve patient morbidity.

Craniopharyngiomas are frequently diagnosed during childhood and adolescence, crucial periods for physical and psychosocial development. Despite improvements in survival rates, patients with childhood-onset craniopharyngioma face a wide array of lifelong complications, which emerge or worsen during adolescence, complicating the transition to adult care. Nevertheless, the transition age (15-25 years) remains an understudied phase in clinical practice. This narrative review synthesises current literature on the endocrine, neurocognitive, and metabolic consequences of transition-age childhood-onset craniopharyngiomas, providing a practical clinical approach to their diagnosis and management, along with an overview of emerging treatment strategies. Childhood-onset craniopharyngiomas are frequently associated with pituitary hormone deficiencies, which typically worsen post-treatment. While replacement protocols largely mirror those for adult patients, particular emphasis should be placed on patient education and optimal timing of treatment, especially regarding puberty induction and growth hormone replacement. Emerging therapies, such as long-acting growth hormone and modified-release hydrocortisone, should be considered to improve compliance. Hypothalamic dysfunction, both pre- and post-treatment, can lead to obesity, sleep disorders, and cognitive impairment. GLP-1 receptor agonists and melanocortin receptor agonists have recently shown promise in managing hypothalamic obesity. Sleep disturbances and cognitive impairment, often overlooked in clinical practice, should be systematically assessed in patients with hypothalamic involvement. Cardiovascular and bone health complications should be proactively addressed to improve long-term outcomes. Childhood-onset craniopharyngioma survivors require multidisciplinary care, particularly during the transition to adulthood. Timely endocrine management, individualised treatment strategies, and emerging targeted therapies are crucial for optimising quality of life and metabolic and neurocognitive outcomes.

Adrenocortical cancers (ACCs) are rare tumours, with up to 50% of cases associated with hypercortisolism. Cortisol-secreting ACCs are characterized by a worse prognosis, and in these patients, the normalization of hypercortisolism is mandatory and requires an urgent approach to avoid complications related to glucocorticoid excess. Clinical and biochemical parameters, including hormonal values, can be used to define cortisol normalization. However, in patients on concomitant mitotane treatment, serum cortisol and ACTH levels may be falsely altered and thus unreliable for defining cortisol normalization. Adrenal steroidogenesis inhibitors, alone or in combination, are the first-line treatment for severe hypercortisolism in ACC due to their rapid action, efficacy, and safety profile. Mitotane is the cornerstone of ACC treatment in both adjuvant and advanced settings. Similarly, glucocorticoid receptor antagonists also have a rapid onset of action, but their use is limited by challenges in monitoring efficacy and safety. This review aims to address the critical aspects of managing cortisol-secreting ACC, including the definition of hypercortisolism control, current therapeutic approaches and future perspectives for ACC, with a focus to the potential role of immune checkpoint inhibitors.