Best practice & research. Clinical endocrinology & metabolism最新文献

英文中文

Metabolic complications and their mechanisms in patients with craniopharyngioma 颅咽管瘤患者的代谢并发症及其机制。

IF 6.1 1区医学 Q1 ENDOCRINOLOGY & METABOLISM

Best practice & research. Clinical endocrinology & metabolism

Pub Date : 2025-09-01 DOI: 10.1016/j.beem.2025.101999

Eva Marie Erfurth , Hermann L. Müller

After diagnosis of craniopharyngioma, patients frequently develop a rapid weight gain leading to morbid hypothalamic obesity due to disease- and/or treatment-associated hypothalamic lesions. Hypothalamic obesity should be diagnosed and treated in the context of hypothalamic syndrome. Hypothalamic syndrome includes neuroendocrine deficiencies, disruption of circadian rhythm, disturbed hunger-satiety and thirst feelings, temperature dysregulation, and neurocognitive, sleep and psychosocial behavioral problems. Long-term prognosis is frequently impaired by increased risk for metabolic syndrome, cardiovascular problems, severe impairments of health-related quality of life, and premature mortality. Treatment of hypothalamic syndrome is challenging. Recently, an algorithm for personalized, risk-specific treatment of hypothalamic syndrome has been published. Dextro-amphetamines and other central stimulating agents as well as glucagon-like peptide-1 receptor (GLP-1R) agonists may cause weight loss. Bariatric surgery is effective. However, non-reversible procedures are controversial due to ethical and legal considerations in minors. Hypothalamus-sparing treatment strategies and research on novel therapeutic agents for hypothalamic syndrome are warranted.

在颅咽管瘤确诊后，由于疾病和/或治疗相关的下丘脑病变，患者经常出现体重迅速增加，导致病态下丘脑肥胖。下丘脑肥胖应在下丘脑综合征的背景下诊断和治疗。下丘脑综合征包括神经内分泌缺陷、昼夜节律紊乱、饥饿-饱足感和口渴感紊乱、体温失调以及神经认知、睡眠和社会心理行为问题。代谢综合征、心血管问题、与健康有关的生活质量严重受损和过早死亡的风险增加，往往会损害长期预后。下丘脑综合征的治疗具有挑战性。最近，一种针对下丘脑综合征的个性化、风险特异性治疗算法已经发表。右旋安非他明和其他中枢刺激剂以及胰高血糖素样肽-1受体（GLP-1R）激动剂可能导致体重减轻。减肥手术是有效的。然而，由于对未成年人的道德和法律考虑，不可逆转的手术存在争议。保留下丘脑的治疗策略和研究新的下丘脑综合征治疗剂是必要的。

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引用次数: 0

Ectopic craniopharyngiomas 异位的适应证。

IF 6.1 1区医学 Q1 ENDOCRINOLOGY & METABOLISM

Best practice & research. Clinical endocrinology & metabolism

Pub Date : 2025-09-01 DOI: 10.1016/j.beem.2025.102047

Georgia Ntali (Consultant Endocrinologist and Honorary Medical Research Fellow in Endocrinology) , Taufiq Khan (Spesialist Registrar in Neurosurgery) , Niki Karavitaki (Professor of Endocrinology and Honorary Consultant Endocrinologist) , Georgios Tsermoulas (Consultant Neurosurgeon and Honorary Associate Professor in Neurosurgery)

Craniopharyngiomas (CPs) are rare embryonic malformational tumours of the sellar/parasellar region, classified by the World Health Organization (WHO) 5th edition as grade 1 tumours. They may arise anywhere on the path of embryonic cell migration between the midline sphenoid bone and the floor of the sella turcica. On rare occasions, they can be found remotely in areas like the nasopharynx, the orbit, the posterior fossa, the brain parenchyma and the spine. Such ectopic CPs may present as primary in an atypical location, or as secondary, which represent distant recurrence after initial surgical excision in an orthotopic location. The pathogenesis of primary and secondary ectopic CPs is considered distinct, reflecting differences in developmental biology versus tumour dissemination. Primary ectopic CPs are thought to arise either from embryologically misplaced tissue or from genetically driven tumourigenesis outside the sella. Pathogenesis of secondary ectopic CPs reflects tumour cell dissemination through surgical tract implantation, cerebrospinal fluid (CSF) seeding or meningeal seeding. Ectopic cases pose unique diagnostic and therapeutic challenges. In this review which encompasses 97 cases (42 primary and 55 secondary ectopic CPs) published during the period, 2000–2025, we discuss the pathogenesis, clinical presentation, diagnosis and management of these distinctive tumours.

颅咽管瘤（CPs）是罕见的鞍区/鞍旁区胚胎畸形肿瘤，被世界卫生组织（WHO）第5版列为1级肿瘤。它们可能出现在蝶骨中线和蝶鞍底之间的胚胎细胞迁移路径上的任何地方。在极少数情况下，它们可以在鼻咽部、眼眶、后窝、脑实质和脊柱等遥远的区域被发现。这种异位CPs可能在非典型部位表现为原发性，也可能是继发性，在原位部位进行首次手术切除后远处复发。原发性和继发性异位CPs的发病机制被认为是不同的，反映了发育生物学与肿瘤传播的差异。原发性异位CPs被认为是由胚胎错位的组织或由遗传驱动的鞍外肿瘤发生引起的。继发性异位CPs的发病机制反映肿瘤细胞通过手术道植入、脑脊液（CSF）播种或脑膜播种播散。异位病例提出了独特的诊断和治疗挑战。本文回顾了2000-2025年期间发表的97例（42例原发性和55例继发性异位CPs），讨论了这些独特肿瘤的发病机制、临床表现、诊断和治疗。

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引用次数: 0

Decoding craniopharyngioma: From mechanisms to therapy 解码颅咽管瘤：从机制到治疗

IF 6.1 1区医学 Q1 ENDOCRINOLOGY & METABOLISM

Best practice & research. Clinical endocrinology & metabolism

Pub Date : 2025-09-01 DOI: 10.1016/j.beem.2025.102051

Jose Mario Gonzalez-Meljem (Assistant Professor) , Lei Cao (Paediatric and Adult Neurosurgeon, Associate Professor) , John Richard Apps (Associate Clinical Professor and Paediatric Neuro-Oncologist) , Juan Pedro Martinez-Barbera (Professor of Developmental Biology and Cancer)

Research from the last 15 years has profoundly advanced our understanding of craniopharyngioma, a challenging tumour of the sella. Genetically and histologically distinct subtypes — adamantinomatous (ACP) and papillary (PCP) — have been decoded. ACP is primarily driven by CTNNB1 mutations, leading to β-catenin accumulation and WNT pathway activation, while PCP is characterized by BRAF-V600E mutations. Sophisticated ACP mouse models and human studies have proposed a mechanism of senescence-driven pathogenesis in which senescent epithelial cells secrete growth and inflammatory factors that orchestrate a tumour-promoting microenvironment through paracrine signalling. Single-cell RNA sequencing has confirmed this view and revealed intricate tumour ecosystems. These foundational insights are now directly informing novel therapies. Promising targeted approaches, including BRAF/MEK inhibitors for PCP and small molecules disrupting the senescence-associated secretory phenotype (SASP) in ACP are transitioning from bench to bedside, heralding a new biology-driven era for patients.

过去15年的研究已经大大提高了我们对颅咽管瘤的认识，颅咽管瘤是一种具有挑战性的鞍区肿瘤。遗传和组织学上不同的亚型-金刚瘤（ACP）和乳头状(PCP) -已被解码。ACP主要由CTNNB1突变驱动，导致β-catenin积累和WNT通路激活，而PCP则以BRAF-V600E突变为特征。复杂的ACP小鼠模型和人体研究提出了衰老驱动的发病机制，其中衰老上皮细胞分泌生长和炎症因子，通过旁分泌信号传导协调促肿瘤微环境。单细胞RNA测序证实了这一观点，并揭示了复杂的肿瘤生态系统。这些基本的见解现在直接影响着新的治疗方法。有前景的靶向治疗方法，包括治疗PCP的BRAF/MEK抑制剂和破坏ACP中衰老相关分泌表型（SASP）的小分子，正在从实验室过渡到临床，预示着一个新的生物学驱动的患者时代。

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引用次数: 0

Growth hormone replacement therapy in childhood-onset craniopharyngioma 生长激素替代疗法在儿童期颅咽管瘤中的应用。

IF 6.1 1区医学 Q1 ENDOCRINOLOGY & METABOLISM

Best practice & research. Clinical endocrinology & metabolism

Pub Date : 2025-09-01 DOI: 10.1016/j.beem.2025.101998

Laura van Iersel Paediatric resident in training , Jiska van Schaik Paediatric resident in training , Hanneke M. van Santen Professor of Paediatric Endocrinology

Tumour- or treatment related growth hormone (GH) deficiency is often observed in children diagnosed or treated for childhood onset craniopharyngioma (cCP). Adequate and timely GH replacement therapy (GHRT) is important to improve growth velocity and final height during childhood. GHRT may be continued through adulthood due to its beneficial effects on metabolic health, bone health, mental health and quality of life. The current evidence suggests no increased risk for tumour progression or recurrence, secondary neoplasms or mortality in cCP patients receiving GHRT. In children with newly diagnosed cCP, GHRT may be initiated as early as three months after initial surgery to ameliorate linear growth and metabolic disturbances. The potential long-term effects of early initiation of GHRT as well GHRT with long-acting GH preparations are topics for future research.

与肿瘤或治疗相关的生长激素（GH）缺乏症在儿童期颅咽管瘤（cCP）诊断或治疗的儿童中经常观察到。适当和及时的生长激素替代疗法（GHRT）对于提高儿童时期的生长速度和最终身高是很重要的。由于GHRT对代谢健康、骨骼健康、心理健康和生活质量的有益影响，它可以持续到成年。目前的证据表明，在接受GHRT的cCP患者中，肿瘤进展或复发、继发性肿瘤或死亡率的风险没有增加。对于新诊断为cCP的儿童，GHRT可以在初始手术后3个月开始，以改善线性生长和代谢紊乱。早期启动GHRT以及GHRT与长效生长激素制剂的潜在长期影响是未来研究的主题。

引用次数: 0

The management of hypothalamic obesity in craniopharyngioma 颅咽管瘤患者下丘脑肥胖的处理。

IF 6.1 1区医学 Q1 ENDOCRINOLOGY & METABOLISM

Best practice & research. Clinical endocrinology & metabolism

Pub Date : 2025-09-01 DOI: 10.1016/j.beem.2025.102018

Paul Dimitri

Hypothalamic obesity (HO) is a severe, treatment-refractory metabolic disorder resulting from hypothalamic injury secondary to craniopharyngioma directly or from its surgical resection. Characterised by dysregulated energy balance from disruption of complex hypothalamic neuroregulatory circuits, hyperphagia, and reduced sympathetic tone, HO arises due to impaired leptin-melanocortin signalling and autonomic dysfunction. Conventional lifestyle modifications remain largely ineffective, necessitating pharmacotherapeutic approaches targeting neuroendocrine and metabolic pathways. Amelioration of sleep disturbances and pituitary dysfunction serve as an important foundation for management of HO. The use of dextroamphetamine in some HO patients has proved effective. Emerging therapies include melanocortin-4 receptor (MC4R) agonists such as setmelanotide, which restore anorexigenic signalling, glucagon-like peptide-1 (GLP-1) receptor agonists that enhance satiety and energy expenditure, and combination strategies integrating adrenergic modulation (Tesomet). Despite promising preliminary data, long-term efficacy and safety profiles require further validation. Optimizing precision medicine approaches incorporating polypharmacotherapy and neuroendocrine modulation may redefine therapeutic paradigms for HO management.

下丘脑肥胖（Hypothalamic obesity， HO）是一种严重的、难以治疗的代谢紊乱，是由颅咽管瘤直接或手术切除后继发的下丘脑损伤引起的。HO的特征是由复杂的下丘脑神经调节回路的破坏、贪食和交感神经张力降低引起的能量平衡失调，HO是由瘦素-黑素皮质素信号传导受损和自主神经功能障碍引起的。传统的生活方式改变在很大程度上仍然无效，需要针对神经内分泌和代谢途径的药物治疗方法。改善睡眠障碍和垂体功能障碍是治疗HO的重要基础。在一些HO患者中使用右旋安非他明被证明是有效的。新兴疗法包括黑素皮素-4受体（MC4R）激动剂，如setmelanotide，可恢复厌食信号，胰高血糖素样肽-1 （GLP-1）受体激动剂，可增强饱腹感和能量消耗，以及整合肾上腺素能调节（Tesomet）的联合策略。尽管初步数据很有希望，但长期疗效和安全性需要进一步验证。结合多种药物治疗和神经内分泌调节的优化精准医学方法可能重新定义HO管理的治疗范式。

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引用次数: 0

Mortality in craniopharyngiomas: Data from the last two decades 颅咽管瘤的死亡率：近二十年的数据

IF 6.1 1区医学 Q1 ENDOCRINOLOGY & METABOLISM

Best practice & research. Clinical endocrinology & metabolism

Pub Date : 2025-09-01 DOI: 10.1016/j.beem.2025.102049

Georgia Ntali (Consultant endocrinologist and Honorary Medical Research Fellow) , Abdul Muktadir Shafi , Niki Karavitaki

Craniopharyngiomas are rare epithelial tumours arising along the path of the craniopharyngeal duct. They are histologically benign but potentially clinically aggressive tumours due to their invasive behaviour and high recurrence rates. Patients with craniopharyngioma have a high burden of comorbidities which could affect their long-term survival. Studies published in the last 20 years and reporting on standardized mortality ratios (SMR) have demonstrated high mortality (SMRs ranging between 2.45 and 12.2), as also proposed in older reports. Cardiovascular, respiratory diseases and infections are main causes of death. Apart from older age at diagnosis, data on other predictors of mortality are not consistent requiring further elucidation.

颅咽管瘤是一种罕见的沿颅咽管路径产生的上皮性肿瘤。它们在组织学上是良性的，但由于其侵袭性和高复发率，具有潜在的临床侵袭性肿瘤。颅咽管瘤患者有很高的合并症负担，这可能影响他们的长期生存。过去20年发表的关于标准化死亡率（SMR）报告的研究表明，死亡率很高（SMR在2.45至12.2之间），这也是以前报告中提出的。心血管、呼吸系统疾病和感染是死亡的主要原因。除了诊断年龄较大外，其他死亡率预测因素的数据不一致，需要进一步阐明。

引用次数: 0

Cardiometabolic outcomes of early onset hypogonadism in males 男性早发性腺功能减退的心脏代谢结果。

IF 6.1 1区医学 Q1 ENDOCRINOLOGY & METABOLISM

Best practice & research. Clinical endocrinology & metabolism

Pub Date : 2025-07-01 DOI: 10.1016/j.beem.2025.102004

Mariska Peck (Academic Foundation Programme Doctor) , Paul Connelly (Consultant in Endocrinology) , Angela K. Lucas-Herald (Senior Lecturer in Child Health, Honorary Consultant in Paediatric Endocrinology)

Testosterone is an important vascular hormone, with multiple effects reported on the vasculature. As such, boys and men with early onset hypogonadism may have altered cardiovascular function, with the potential to result in adverse cardiometabolic outcomes in adulthood. Given the fact that cardiovascular changes in the young can affect future cardiovascular health, there is a need to better understand the influence of androgens on the vasculature in those with conditions such as 46, XY Disorders of Sex Development and Klinefelter Syndrome. This review summarises what is known about hypogonadism and the effects of testosterone supplementation in adults with hypogonadism, as well as what is currently understood in those with early onset hypogonadism specifically. A number of research gaps persist in this area and there is a need for international collaborative studies to address these for future generations of affected individuals.

睾酮是一种重要的血管激素，对脉管系统有多种作用。因此，早发性腺功能减退的男孩和男性可能会改变心血管功能，有可能导致成年后不良的心脏代谢结果。鉴于年轻人的心血管变化会影响未来的心血管健康，有必要更好地了解雄激素对46、XY性发育障碍和Klinefelter综合征等疾病患者血管系统的影响。这篇综述总结了关于性腺功能减退的已知知识和睾酮补充对成年性腺功能减退的影响，以及目前对早期性腺功能减退的理解。在这一领域仍然存在一些研究差距，需要进行国际合作研究，为受影响的后代解决这些问题。

引用次数: 0

The epidemiology of disorders of sex development 性发育障碍的流行病学。

IF 6.1 1区医学 Q1 ENDOCRINOLOGY & METABOLISM

Best practice & research. Clinical endocrinology & metabolism

Pub Date : 2025-07-01 DOI: 10.1016/j.beem.2025.102002

Agnethe Berglund , Simon Chang , Marie Lind-Holst , Kirstine Stochholm , Claus Højbjerg Gravholt

During recent years the epidemiology of disorders of sex development (DSD) has been more clearly delineated. Here, we provide a detailed and up-to-date synopsis of the epidemiology of DSD, incorporating the latest body of knowledge in the field for sex chromosome DSD (Turner, Klinefelter, 47,XXX, and 47,XXY syndrome, and 45,X/46,XY mosaicism) as well as for 46,XX DSD and 46,XY DSD focusing on females with congenital adrenal hyperplasia (CAH), males with 46,XX DSD, females with Mayer-Rokitansky-Küster-Hauser syndrome and females with 46,XY DSD. Despite not fitting directly within the Chicago Consensus classification for DSD, we also include the few epidemiological studies addressing ambiguous genitalia. We show that epidemiological studies have improved our understanding of DSD and led to sound estimates of prevalence, have detailed morbidity and mortality patterns and have for some conditions also shed light on the impact on socioeconomic achievements.

近年来，性发育障碍（DSD）的流行病学已经有了更清晰的描述。本文结合性染色体DSD （Turner, Klinefelter, 47，XXX和47，XXY综合征，以及45，X/46，XY嵌合）领域的最新知识，以及46，XX DSD和46，XY DSD，重点是先天性肾上腺增生症（CAH）女性、46，XX DSD男性、mayer - rokitansky - k ster- hauser综合征女性和46，XY DSD女性。尽管不符合直接在芝加哥共识分类DSD，我们也包括一些流行病学研究解决模糊生殖器。我们表明，流行病学研究提高了我们对DSD的理解，并导致了对患病率的合理估计，详细的发病率和死亡率模式，并且在某些情况下还揭示了对社会经济成就的影响。

引用次数: 0

Differences & disorders of sex development: A focus on outcomes 性发展的差异和障碍：关注结果。

IF 6.1 1区医学 Q1 ENDOCRINOLOGY & METABOLISM

Best practice & research. Clinical endocrinology & metabolism

Pub Date : 2025-07-01 DOI: 10.1016/j.beem.2025.102029

S. Faisal Ahmed , Olaf Hiort

引用次数: 0

Defining sex in the sporting world 在体育界定义性别。

IF 6.1 1区医学 Q1 ENDOCRINOLOGY & METABOLISM

Best practice & research. Clinical endocrinology & metabolism

Pub Date : 2025-07-01 DOI: 10.1016/j.beem.2025.102005

David J. Handelsman , Stéphane Bermon

At an elite international level, professional sports have a well-established fairness-based binary sex classification which is challenged by male-bodied athletes with female gender identity, notably male-to-female transgender and XY Disorders of Sex Development (DSD) individuals seeking to compete in female events. For sports where success depends on power and/or endurance, physical advantages stemming from male puberty, which produces men’s circulating testosterone concentrations 20–30 times those of children or women at any age, leading to larger and stronger muscles, bones, cardiorespiratory functions and blood hemoglobin. Yet complete suppression of endogenous testosterone after male puberty leaves a legacy of reduced but not eliminated physical advantages. Hence a protected female category in power sports is essential to allow women a fair and safe chance at the fame and fortune derived from success. For community, recreational and youth sports, or those without male physical advantages invoking safety or fairness issues, inclusivity may prevail.

在国际精英水平上，职业体育有一个建立在公平基础上的二元性别分类，这受到了具有女性性别认同的男性运动员的挑战，特别是男变女变性和XY性发育障碍（DSD）个体寻求在女性项目中竞争。对于那些靠力量和/或耐力取胜的运动来说，生理上的优势来自于男性的青春期，在这个时期，男性的循环睾酮浓度是任何年龄的儿童或女性的20-30倍，从而导致更大、更强壮的肌肉、骨骼、心肺功能和血液中的血红蛋白。然而，在男性青春期后，内源性睾酮的完全抑制留下了减少而不是消除身体优势的遗产。因此，在力量运动中设立一个受保护的女性类别是必不可少的，这样才能让女性有公平和安全的机会获得成功带来的名声和财富。对于社区、娱乐和青少年运动，或者那些没有男性身体优势的运动，涉及安全或公平问题，包容性可能占上风。

引用次数: 0

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