Reviews in Endocrine & Metabolic Disorders最新文献

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.

This study examines the 34-year trends in gestational diabetes mellitus (GDM) prevalence in China, analyzing diagnostic shifts, regional variations, and urban-rural disparities. A comprehensive search of PubMed, Scopus, EMBASE, Google Scholar, WanFang, and China National Knowledge Infrastructure was conducted, ultimately including 1,105 articles after screening and data extraction. The study used multilevel meta-analysis to calculate pooled GDM prevalence and meta-regression to estimate trends and identify sources of heterogeneity. The results show that GDM prevalence based on the International Association of Diabetes and Pregnancy Study Groups (IADPSG) criteria was 2 to 3 times higher (15.6%, [95% CI 14.9-16.2%]) in pregnant women post-2010, compared to other criteria (e.g., World Health Organization: 7.1%, [95%CI 4.1-10.0%]). A consistent upward trend in GDM prevalence was observed across all criteria except for ADA/C&C samples. Notably, the urban-rural gap in GDM prevalence is narrowing, with rural areas experiencing a faster increase in GDM rates (rural: 0.90% per year, urban: 0.60% per year). Additionally, regional differences are becoming less pronounced. The study highlights the significant and rapid rise in GDM prevalence in China over the past 34 years, with a notable shift in regional patterns. The narrowing of the urban-rural disparity and the diminishing regional differences underscore the need for unified national guidelines and targeted healthcare strategies to address the growing prevalence of GDM across diverse populations.Protocol registration.Systematic review registration PROSPERO CRD42019135521.

The diagnosis of pituitary adenomas (PAs), also called pituitary tumors or neuroendocrine tumors (PitNETs) currently involves assessment of blood/plasma hormone levels and traditional neuroradiological techniques, with magnetic resonance imaging (MRI) being of particular significance. However, Positron Emission Tomography- computerized tomography (PET-CT) has been gaining a more substantial role both for the diagnosis and management of PAs. The present systematic review analyzes the most widely used radiopharmaceuticals in the evaluation of pituitary disorders. We explore the potential utilization of PET with multiple radiopharmaceuticals for individualized diagnosis and therapeutic strategies, highlighting both the constraints and merits of this constantly evolving technique and application in clinical practice.

Cardiovascular autonomic neuropathy (CAN) is a serious and prevalent complication of diabetes, linked to significant morbidity and mortality. Continuous glucose monitoring systems (CGM) provide a comprehensive and continuous glucose profile, enabling precise assessment of glycemic variability, hypoglycemia, and other key glucose metrics. Despite the increasing use of CGM, the relationship between CGM-derived metrics and CAN risk has yet to be rigorously evaluated. A systematic search of PubMed, Cochrane Library, Web of Science, Medline, and Embase was conducted up to 30 September 2024. Eligible observational studies assessed the association between CGM metrics and CAN in diabetic adults, using ORs with 95% CIs. Heterogeneity was evaluated via Cochrane's Q and I² statistics, and meta-analysis was performed when at least three studies provided comparable CGM metrics and outcomes. Sixteen studies involving 1,814 participants were included in the systematic review. Among these, four studies each for coefficients of variation (CV) and standard deviation (SD), and five studies for mean amplitude of glycemic excursions (MAGE) provided data suitable for meta-analysis. Higher CV (OR 1.08; 95% CI 1.04-1.12) and SD (OR 1.03; 95% CI 1.01-1.06) were significantly associated with increased CAN risk, whereas MAGE was not significantly associated (OR 1.01; 95% CI 0.99-1.03). Other metrics such as time in range (TIR), time above/below range (TAR/TBR), and low blood glucose index (LBGI) showed inconsistent results across studies and were synthesized narratively. Higher glycemic variability, notably CV and SD, is linked to increased CAN risk in patients with diabetes. Monitoring CGM metrics may aid early detection and management of CAN. Further high-quality longitudinal studies are warranted.

Gender-affirming hormone therapy (GAHT) uses sex steroid hormones to induce desired physical changes, improving the quality of life of transgender individuals. While generally considered safe, its effects on body composition and adipose tissue remain a topic of debate. The aim of this review was to verify whether GAHT is associated with weight gain and body composition in transgender individuals. This is a systematic review with meta-analysis (April-September 2022, updated March 2025) following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, including cohort, case‒control, and clinical trial studies from four databases. The outcomes analyzed included body mass index (BMI), body fat (BF), lean mass (LM), and waist circumference (WC). Among the 1,896 identified studies, 29 were included in the systematic review, and 28 were included in the meta-analysis. GAHT increased BMI in assigned male at birth (AMAB) individuals (0.55 kg/m², 95% CI: 0.14-0.97) and assigned female at birth (AFAB) individuals (0.92 kg/m², 95% CI: 0.55-1.29). The AMAB participants presented a reduction in LM (-1.81 kg, 95% CI: -3.15, -0.47) and an increase in BF (4.27 kg, 95% CI: 3.15-5.39), whereas the AFAB individuals presented an increase in LM (4.98 kg, 95% CI: 4.06-5.91) and a decrease in BF (-2.13 kg, 95% CI: -3.52, -0.75). No significant changes in WC were observed in either group. According to the GRADE assessment, the certainty of evidence was moderate for BMI and low to very low for changes in waist circumference, lean mass, and fat mass. GAHT is associated with increased BMI and body composition changes. These alterations align with the expected outcomes for transgender individuals and do not appear to be directly linked to cardiovascular risks.

Traditional reliance on Body Mass Index (BMI) as a diagnostic tool for obesity is increasingly challenged due to its inability to differentiate between fat and lean mass and to capture fat distribution. Emerging evidence-including findings from our longitudinal study in Latino patients with obesity and insights from the 2025 Lancet Commission on Obesity-suggests that a comprehensive evaluation of body composition is essential for accurate risk stratification. This review synthesizes historical perspectives and recent developments in obesity phenotyping, detailing how the field has evolved from simple BMI-based assessments to multifaceted approaches incorporating bioelectrical impedance analysis (BIA) and supplementary anthropometric measures such as waist circumference and waist-to-hip ratio. We also examine the metabolic, genetic, and hormonal mechanisms underlying phenotypic variability, which help explain why individuals with similar BMIs may exhibit markedly different health risks. By integrating our original data with an extensive review of current literature, we demonstrate that refined obesity phenotyping can serve as an early indicator of progression from preclinical to clinical obesity. Such nuanced classifications offer the potential for more personalized therapeutic interventions aimed at optimizing weight loss outcomes and reducing cardiometabolic risk. Overall, our findings advocate for a multidimensional approach to obesity assessment that promises to improve clinical outcomes through tailored, phenotype-based strategies.

The increasing use of cosmetics and therapeutic products has raised concerns about their effects on skin health and overall well-being. This review focuses on the toxicological impact of cosmetic ingredients, particularly endocrine-disrupting chemicals (EDCs) such as benzophenones, triclosan, phthalates, and parabens. Frequently present in skincare, haircare, and cosmetic products, these compounds have been associated with adverse outcomes, including carcinogenesis, skin disorders, hormonal imbalances, and reproductive health issues. Despite extensive research on parabens, phthalates, triclosan, and benzophenones, significant uncertainties persist, underscoring the need for further investigation to understand previous findings better. To mitigate these risks, the review recommends adopting safer alternatives, increasing consumer awareness, and enforcing stricter regulatory measures. This comprehensive analysis aims to bridge existing knowledge gaps, empower consumers to make informed choices, and advocate for strict safety standards in personal care products to safeguard skin health and support long-term well-being.

Thyroid tumors display remarkable phenotypic plasticity, particularly in their progression from well-differentiated forms to aggressive, dedifferentiated subtypes such as anaplastic thyroid carcinoma. While genetic drivers such as BRAF, TP53, and members of the RAS gene family underpin key oncogenic transitions, they do not fully explain the profound transcriptional deregulation and therapeutic resistance that characterize advanced disease. Mobile genetic elements, including LINE-1 retrotransposons and human endogenous retroviruses, constitute nearly half of the human genome and normally contribute to gene regulation, chromatin organization and developmental plasticity. However, epigenetic erosion and loss of genome surveillance lead to their aberrant reactivation, generating non-canonical transcripts, regulatory rewiring and insertional mutagenesis. In cancer, TERT promoter mutations have been linked to transcriptional activation of specific endogenous retroviral elements, and TP53 dysfunction exacerbates LINE-1 derepression, functionally connecting classical genetic alterations to mobilome reactivation, genome instability and phenotypic dedifferentiation. Emerging data also indicate that reverse transcriptase inhibitors (e.g., lamivudine, nevirapine) can partially suppress retroelement activity, induce transcriptional reprogramming and restore radioiodine uptake in refractory thyroid tumors, highlighting a potential therapeutic vulnerability. By integrating cancer epigenetics and mobilome biology, this review reframes thyroid tumor evolution as a process shaped not only by genetic alterations but also by retroelement-mediated disruption of genome regulation. Retroelements may serve as biomarkers of aggressive transformation and as actionable targets in translational oncology.