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

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。

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-05-14 DOI: 10.1016/j.beem.2025.102004

Mariska Peck, Paul Connelly, Angela K Lucas-Herald

引用次数: 0

Neuroendocrine changes during the acute phase following traumatic brain injury. 外伤性脑损伤急性期神经内分泌的变化。

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-04-29 DOI: 10.1016/j.beem.2025.102003

Eibhlín Marie Lonergan, Amar Agha

引用次数: 0

The interplay between thyrotropic axis, neurological complications, and rehabilitation outcomes in patients with traumatic brain injury. 外伤性脑损伤患者的促甲状腺轴、神经系统并发症和康复结局之间的相互作用。

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-04-24 DOI: 10.1016/j.beem.2025.102001

Chiara Mele, Lucrezia De Marchi, Rosa Pitino, Luisa Costantini, Beatrice Cavigiolo, Marina Caputo, Paolo Marzullo, Gianluca Aimaretti

{"title":"The interplay between thyrotropic axis, neurological complications, and rehabilitation outcomes in patients with traumatic brain injury.","authors":"Chiara Mele, Lucrezia De Marchi, Rosa Pitino, Luisa Costantini, Beatrice Cavigiolo, Marina Caputo, Paolo Marzullo, Gianluca Aimaretti","doi":"10.1016/j.beem.2025.102001","DOIUrl":"https://doi.org/10.1016/j.beem.2025.102001","url":null,"abstract":"Traumatic brain injury (TBI) is a leading cause of mortality and long-term disability, with its pathophysiology encompassing both primary mechanical damage and secondary neuroinflammatory, metabolic, and biochemical alterations. These complex mechanisms contribute to the observed heterogeneous clinical outcomes, including neuroendocrine dysfunctions, post-traumatic seizures, and disorders of consciousness (DoC). Thyroid hormones (THs) play essential roles in synaptic plasticity, neurogenesis and neuronal homeostasis, and the hypothalamic-pituitary-thyroid (HPT) axis has recently emerged as a potential acute and chronic modulator of neurological and functional recovery following TBI, thereby hinting at the potential involvement of THs in post-TBI outcomes. While evidence suggests that alterations in the HPT axis may influence susceptibility to seizures, progression of DoC, and rehabilitation outcomes, an increased blood-brain barrier permeability in concert with dysregulated deiodinase activity and expanding oxidative stress have all been proposed as mechanisms linking THs to post-TBI neurological complications. This review aims to summarize current evidence on the potential role of the thyrotropic axis in neurological and rehabilitation outcomes following TBI.","PeriodicalId":93894,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":" ","pages":"102001"},"PeriodicalIF":0.0,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144031997","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

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

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-04-24 DOI: 10.1016/j.beem.2025.102002

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

引用次数: 0

Androgen insensitivity and the evolving genetic heterogeneity. 雄激素不敏感与进化中的遗传异质性。

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-04-24 DOI: 10.1016/j.beem.2025.102000

Nadine Hornig, Rafael Loch Batista

{"title":"Androgen insensitivity and the evolving genetic heterogeneity.","authors":"Nadine Hornig, Rafael Loch Batista","doi":"10.1016/j.beem.2025.102000","DOIUrl":"https://doi.org/10.1016/j.beem.2025.102000","url":null,"abstract":"Androgen Insensitivity Syndrome (AIS) is a 46,XY difference of sex development (DSD) classically caused by mutations in the androgen receptor (AR) gene, leading to variable androgen resistance and a broad phenotypic spectrum traditionally classified as complete, partial, or mild. Phenotypic variability can occur even with identical AR mutations, particularly those within the ligand-binding domain of the AR. Emerging evidence implicates non-coding regulatory variants, deep intronic mutations, AR co-regulator dysfunction, and oligogenic inheritance in the aetiology of AIS. The molecular diagnostic workflow should incorporate either targeted AR sequencing or whole-exome sequencing, depending on the clinical context. Biochemical and functional assays remain clinically useful, especially when AR variants are not detected or when variants of unknown significance (VUS) are identified. Advances in patient-derived hiPSC models and testicular organoids provide new insights into AR function and therapeutic strategies. Expanding genomic and epigenetic research will refine diagnostic accuracy, and personalized care, ultimately optimizing patient outcomes in AIS.","PeriodicalId":93894,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":" ","pages":"102000"},"PeriodicalIF":0.0,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144058800","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Clinical manifestations and treatment of hypopituitarism due to traumatic brain injury. 外伤性脑损伤所致垂体功能减退症的临床表现及治疗。

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-04-17 DOI: 10.1016/j.beem.2025.101996

Catherine D Zhang, Adriana G Ioachimescu

{"title":"Clinical manifestations and treatment of hypopituitarism due to traumatic brain injury.","authors":"Catherine D Zhang, Adriana G Ioachimescu","doi":"10.1016/j.beem.2025.101996","DOIUrl":"https://doi.org/10.1016/j.beem.2025.101996","url":null,"abstract":"Traumatic brain injury (TBI) is a global health problem with rising incidence. In many patients, pituitary hormone deficiencies after TBI are transient; however, in some cases, they can persist or develop in the chronic phase. Post-traumatic hypopituitarism has a variable clinical course, reflecting its complex pathophysiology and incompletely understood risk factors. The diagnosis can be challenging, because symptoms of hypopituitarism may overlap with other TBI manifestations. Confirmatory endocrine testing is often required for diagnosis. Untreated chronic hypopituitarism can adversely affect physical, neurocognitive, and psychosocial rehabilitation; body composition; glucose metabolism; bone metabolism; and quality of life. Screening for hypopituitarism is recommended after moderate or severe TBI and for selected patients with mild TBI and suggestive clinical symptoms. Management requires an individualized multidisciplinary approach and consideration of endocrine pathology. In this review, we discuss the clinical manifestations and current management standards for hypopituitarism in adults with TBI.","PeriodicalId":93894,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":" ","pages":"101996"},"PeriodicalIF":0.0,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144032101","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

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。

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-04-17 DOI: 10.1016/j.beem.2025.101999

Eva Marie Erfurth, Hermann L Müller

{"title":"Metabolic complications and their mechanisms in patients with craniopharyngioma.","authors":"Eva Marie Erfurth, Hermann L Müller","doi":"10.1016/j.beem.2025.101999","DOIUrl":"https://doi.org/10.1016/j.beem.2025.101999","url":null,"abstract":"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.","PeriodicalId":93894,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":" ","pages":"101999"},"PeriodicalIF":0.0,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144060561","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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。

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-04-17 DOI: 10.1016/j.beem.2025.101998

Laura van Iersel, Jiska van Schaik, Hanneke M van Santen

引用次数: 0

Epidemiology and risk factors for hypopituitarism due to traumatic brain injury. 外伤性脑损伤所致垂体功能减退的流行病学及危险因素。

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-04-17 DOI: 10.1016/j.beem.2025.101997

Kursad Unluhizarci, Emre Urhan

引用次数: 0

Pituitary dysfunction due to sports injuries. 运动损伤所致垂体功能障碍。

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-03-26 DOI: 10.1016/j.beem.2025.101995

Canan Sehit Kara, Zuleyha Karaca

引用次数: 0