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

Broader impact and outcome of human NR5A1/SF1 variants. 人类NR5A1/SF1变异的更广泛影响和结果

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-07-04 DOI: 10.1016/j.beem.2025.102023

Chrysanthi Kouri, Rawda Naamneh-Elzenaty, Idoia Martinez de Lapiscina, Christa E Flück

引用次数: 0

Hormone replacement in disorders of sex development, and long-term effects. 激素替代对性发育障碍的长期影响。

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-06-26 DOI: 10.1016/j.beem.2025.102022

Anna Nordenström, Alessandra Mangone, Giovanna Mantovani

{"title":"Hormone replacement in disorders of sex development, and long-term effects.","authors":"Anna Nordenström, Alessandra Mangone, Giovanna Mantovani","doi":"10.1016/j.beem.2025.102022","DOIUrl":"https://doi.org/10.1016/j.beem.2025.102022","url":null,"abstract":"Disorders of sex development, DSD, are in the majority of cases caused by alterations in the gonadal or adrenal function that affect steroid hormone synthesis or action. Gonadal deficiencies result in a need for testosterone or estradiol replacement to achieve pubertal development as well as for continuous life-long replacement with sex hormones. In cases with adrenal enzyme deficiencies, glucocorticoid and sometimes mineralocorticoid replacement may be required to normalize the hormonal situation. Long-term outcomes related to growth, bone mineral density, cardiovascular and metabolic health, as well as psychosocial wellbeing, are increasingly being reported, both in relation to different treatment strategies and as a consequence of insufficient or absent treatment. Transition from pediatric to adult care is a vulnerable period which needs to be organized and individually tailored to ensure lifelong treatment and optimized general health. Individuals with a DSD should be seen by multidisciplinary teams at all ages, for diagnostic evaluation, for treatment and for long-term clinical follow-up.","PeriodicalId":93894,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":" ","pages":"102022"},"PeriodicalIF":0.0,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144602457","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

Gonadectomy in individuals with a difference of sex development - For whom, when, why, and why not? 性发育差异个体的性腺切除术-为谁，何时，为什么，为什么不？

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-06-14 DOI: 10.1016/j.beem.2025.102019

Sabine E Hannema, Michele A O'Connell

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。

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-06-11 DOI: 10.1016/j.beem.2025.102018

Paul Dimitri

{"title":"The management of hypothalamic obesity in craniopharyngioma.","authors":"Paul Dimitri","doi":"10.1016/j.beem.2025.102018","DOIUrl":"https://doi.org/10.1016/j.beem.2025.102018","url":null,"abstract":"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.","PeriodicalId":93894,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":" ","pages":"102018"},"PeriodicalIF":0.0,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144295495","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

Care quality improvement in differences of sex development. 性别发育差异对护理质量改善的影响。

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-06-07 DOI: 10.1016/j.beem.2025.102016

Ulla Döhnert, Justin H Davies

引用次数: 0

Fertility in differences of sex development patients. 性发育患者生育能力的差异。

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-06-07 DOI: 10.1016/j.beem.2025.102017

Morgane Carre Lecoindre, Courtney Finlayson, Philippe Touraine

引用次数: 0

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

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-05-22 DOI: 10.1016/j.beem.2025.102005

David J Handelsman, Stéphane Bermon

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。

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

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