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

英文中文

Assessment of patient-centered outcomes in young children with differences of sex development 性别发育差异幼儿以患者为中心的预后评估。

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.2025.102030

Salma R. Ali PhD , Xanthippi Tseretopoulou MD , David E. Sandberg PhD

Patient-reported outcome measures (PROMs) are key to evaluating the real-life impact of care, particularly for individuals with differences/disorders of sex development (DSD). DSDs are congenital and life-long conditions, most often ascertained in infancy or adolescence, and are characterized by atypical chromosomal, gonadal, or phenotypic sex. PROMs capture vital aspects of health-related quality of life (HRQoL) and psychosocial well-being from the perspective of patients and caregivers, complementing traditional clinical outcomes. Despite their importance, there is a paucity of validated, DSD-specific PRO measures available across the lifespan, resulting in challenges for standardized assessment and clinical benchmarking. Recent developments have led to the creation and validation of shortened, condition-specific HRQoL questionnaires for young children with DSD and their parents, which demonstrate strong psychometric properties and good clinical acceptability. Integrating regular assessments with these PROMs, especially those tailored for DSD, into routine care and rare disease registries can support ongoing monitoring, facilitate timely psychosocial interventions, and enable robust evaluation of intervention effectiveness. However, several barriers to implementation remain, including respondent burden, variability in comprehension, cultural sensitivity, and the need for specialized personnel to interpret results and translate them into practical recommendations. Stigma associated with DSD can further hinder engagement, potentially resulting in under identification of those most in need. Future strategies should focus on the use of validated, culturally adapted PROMs across all age ranges, regular assessment intervals, and electronic integration within health records and registries. Incorporating PROMs enable a holistic, patient-centered approach to care for individuals with DSD, supporting improved outcomes and better informed shared decision making.

患者报告的结果测量（PROMs）是评估护理对现实生活影响的关键，特别是对患有性发育差异/障碍（DSD）的个体。dsd是先天性和终身疾病，最常在婴儿期或青春期确定，其特征是非典型染色体、性腺或表现型性别。PROMs从患者和护理人员的角度捕捉与健康有关的生活质量（HRQoL）和社会心理健康的重要方面，补充了传统的临床结果。尽管它们很重要，但在整个生命周期中，缺乏经过验证的、针对dsd的PRO测量方法，这给标准化评估和临床基准设定带来了挑战。最近的发展导致了针对DSD幼儿及其父母的缩短的、特定条件的HRQoL问卷的创建和验证，这些问卷显示出强大的心理测量特性和良好的临床可接受性。将定期评估纳入常规护理和罕见疾病登记中，特别是那些为DSD量身定制的评估，可以支持持续监测，促进及时的社会心理干预，并能够对干预效果进行强有力的评估。然而，实施的一些障碍仍然存在，包括应答者负担、理解的差异、文化敏感性以及需要专业人员解释结果并将其转化为实际建议。与DSD相关的耻辱感可能进一步阻碍参与，可能导致无法识别最需要帮助的人。未来的战略应侧重于在所有年龄范围内使用经过验证的、适应文化的prom，定期评估间隔，并在健康记录和登记内进行电子整合。结合PROMs，可以为DSD患者提供全面的、以患者为中心的护理方法，支持改善结果和更明智的共同决策。

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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。

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.2025.102022

Anna Nordenström , Alessandra Mangone , Giovanna Mantovani

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.

性发育障碍（DSD）在大多数情况下是由影响类固醇激素合成或作用的性腺或肾上腺功能的改变引起的。性腺功能缺陷导致需要睾酮或雌二醇替代来实现青春期发育，以及持续终生更换性激素。在肾上腺酶缺乏的情况下，可能需要糖皮质激素和有时矿皮质激素替代来使激素状况正常化。与生长、骨密度、心血管和代谢健康以及心理社会健康相关的长期结果越来越多地被报道，这既与不同的治疗策略有关，也与治疗不足或缺乏治疗有关。从儿科到成人护理的过渡是一个脆弱的时期，需要组织和个性化定制，以确保终身治疗和优化一般健康。患有DSD的个体应由各年龄段的多学科团队进行诊断评估、治疗和长期临床随访。

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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？

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.2025.102019

Sabine E. Hannema (Consultant Paediatric Endocrinologist) , Michele A. O’Connell (Consultant Paediatric Endocrinologist)

Several forms of differences of sex development (DSD) are associated with an increased risk of gonadal germ cell cancer, which can be prevented by a gonadectomy. However, when considering prophylactic gonadectomy potential benefits need to be carefully weighed against potential harms, taking into account factors such as endocrine function of the gonad, potential fertility and the risk of germ cell cancer. While evidence is available for particular diagnoses, to assess gonadal function and risk at an individual level remains challenging. A comprehensive approach to assessment is described. Alternatives to gonadectomy include surveillance for cancer development but current methods have low sensitivity and specificity. Undesired sex steroid production can be suppressed with GnRH analogue treatment. Unless it poses an unacceptable medical risk, it is generally preferable to delay a decision regarding gonadectomy until the individual can be involved in a shared decision making process.

几种形式的性发育差异（DSD）与性腺生殖细胞癌的风险增加有关，这可以通过性腺切除术来预防。然而，在考虑预防性性腺切除术的潜在益处和潜在危害时，需要仔细权衡，考虑到性腺内分泌功能、潜在生育能力和生殖细胞癌风险等因素。虽然有证据可用于特定的诊断，但在个体水平上评估性腺功能和风险仍然具有挑战性。描述了一种全面的评估方法。替代性腺切除术的方法包括监测癌症的发展，但目前的方法灵敏度和特异性较低。不希望的性类固醇产生可以抑制与GnRH类似物治疗。除非它会造成不可接受的医疗风险，否则通常最好推迟关于性腺切除术的决定，直到个人可以参与共同的决策过程。

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引用次数: 0

The options for delayed surgery – Is there evidence available for delayed genitoplasty in differences/disorders of sex development? 延迟手术的选择-是否有证据表明延迟生殖器成形术可以治疗性发育的差异/障碍？

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.2025.102024

Hedvig Engberg , Lisa Örtqvist , Gundela Holmdahl

The question whether delaying genital surgery in individuals with differences/disorders of sex development is an option, or an even better option than early surgery, is complex and based on many considerations. The evidence must be considered poor for both alternatives. This review aims to evaluate some important outcome studies from the last two decades regarding the potential benefits of delayed genital surgery and explores the feasibility of performing male and female genitoplasty after the onset of puberty.

对于有性发育差异/障碍的个体，推迟生殖器手术是否是一种选择，或者比早期手术更好的选择，这个问题很复杂，需要考虑很多因素。这两种选择的证据都不够充分。本综述旨在评估过去二十年来关于延迟生殖器手术的潜在益处的一些重要结果研究，并探讨在青春期开始后进行男性和女性生殖器成形术的可行性。

引用次数: 0

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

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.2025.102023

Chrysanthi Kouri (Endocrinology and Genetics Researcher) , Rawda Naamneh-Elzenaty (Biomedical Researcher) , Idoia Martinez de Lapiscina (Endocrinology and Genetics Researcher) , Christa E. Flück (Pediatric Endocrinologist)

Nuclear Receptor Subfamily 5 Group A Member 1, also known as Steroidogenic Factor 1 (NR5A1/SF-1), plays a crucial role in human sex development and steroidogenesis. Pathogenic variants in the NR5A1 gene are well-established causes of 46,XY and 46,XX differences in sex development (DSD) and primary ovarian insufficiency. While numerous studies have demonstrated that these variants impair puberty and fertility, the full spectrum of pubertal and reproductive effects in affected individuals remains difficult to define. Emerging evidence suggests broader, long-term implications beyond gonadal function, including effects on spleen function and metabolic health, not only in individuals with DSD, but also in asymptomatic carriers of NR5A1/SF-1 variants within the general population. However, these findings require validation through larger, longitudinal studies. This review provides a comprehensive overview of current knowledge and existing gaps, emphasizing the broader impact and long-term effects of NR5A1/SF-1 variants.

核受体亚家族5A组1号成员，也被称为甾体生成因子1 (NR5A1/SF-1)，在人类性发育和甾体生成中起着至关重要的作用。NR5A1基因的致病性变异是性别发育（DSD）和原发性卵巢功能不全的46，XY和46，XX差异的确定原因。虽然许多研究已经证明这些变异会损害青春期和生育能力，但在受影响的个体中，青春期和生殖的全部影响仍然难以确定。新出现的证据表明，不仅在DSD患者中，而且在普通人群中无症状的NR5A1/SF-1变异携带者中，DSD对性腺功能之外的更广泛、更长期的影响，包括对脾脏功能和代谢健康的影响。然而，这些发现需要通过更大规模的纵向研究来验证。这篇综述提供了当前知识和现有差距的全面概述，强调了NR5A1/SF-1变异的更广泛的影响和长期影响。

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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。

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.2025.102000

Nadine Hornig , Rafael Loch Batista

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.

雄激素不敏感综合征（AIS）是一种46，xy的性发育差异（DSD），通常由雄激素受体（AR）基因突变引起，导致可变的雄激素抗性，其表型谱广泛，传统上分为完全、部分或轻度。即使是相同的AR突变也可能发生表型变异，特别是在AR的配体结合域内的突变。新出现的证据表明，AIS的病因包括非编码调节变异体、深度内含子突变、AR共调节功能障碍和寡基因遗传。分子诊断工作流程应结合靶向AR测序或全外显子组测序，具体取决于临床情况。生化和功能分析在临床上仍然有用，特别是当未检测到AR变异或识别出未知意义变异（VUS）时。患者源性hiPSC模型和睾丸类器官的进展为AR功能和治疗策略提供了新的见解。扩大基因组和表观遗传学研究将提高诊断准确性和个性化护理，最终优化AIS患者的预后。

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引用次数: 0

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

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.2025.102017

Morgane Carre Lecoindre , Courtney Finlayson , Philippe Touraine

Management of differences of sex development (DSD) continues to evolve, with increased attention to fertility. Knowledge gaps remain among providers and patients about fertility potential and options for fertility preservation. It is complicated, requiring individualized assessment. Fertility potential varies by diagnosis, gonadal status and age. Many DSD conditions confer increased risk of gonadal germ cell tumor, prompting consideration of prophylactic gonadectomy and loss of potential germ cells or gametes. These potential gametes also may not match the sex designation or gender identity. Some causes of DSD are heritable, thus genetic counseling is important to address inheritance risks. Fertility considerations are further complicated by the need for some management decisions to occur during the pediatric period, an individual may not be able to assent or consent, and decisions may be made by parents. Advances in ART and fertility preservation techniques have improved outcomes, and investigational techniques may offer more future options.

随着对生育能力的日益关注，对性别发育差异（DSD）的管理也在不断发展。提供者和患者之间关于生育潜力和保留生育能力的选择的知识差距仍然存在。它很复杂，需要个性化评估。生育潜力因诊断、性腺状态和年龄而异。许多DSD疾病会增加患性腺生殖细胞肿瘤的风险，这促使人们考虑预防性性腺切除术和潜在生殖细胞或配子的丧失。这些潜在的配子也可能与性别指定或性别认同不匹配。DSD的一些原因是遗传的，因此遗传咨询对解决遗传风险很重要。由于需要在儿科时期做出一些管理决定，个人可能无法同意或同意，决定可能由父母做出，因此生育方面的考虑进一步复杂化。抗逆转录病毒技术和生育能力保存技术的进步改善了结果，研究技术可能会提供更多的未来选择。

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。

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.2025.102016

Ulla Döhnert , Justin H. Davies

Collaborative efforts across Europe and the world aim to improve the care quality provided to individuals with differences of sex development (DSD). Quality management in healthcare ensures that patients receive evidence-based and consistently high-quality care. Healthcare quality is categorised into the three interrelated components: structure, process and outcome. Quality indicators serve as proxies to demonstrate whether good quality is achieved and can be used for benchmarking purposes. This article highlights how the categories of structure, process, and outcome quality can be applied to the care for individuals with DSD. We review the implementation of benchmarking to continually assess and improve the care for people with DSD at a national level and how DSD studies may inform benchmarking at an international level.

欧洲和世界各地的合作努力旨在提高对性发育差异个体（DSD）的护理质量。医疗保健领域的质量管理可确保患者获得循证且始终如一的高质量护理。医疗保健质量分为三个相互关联的组成部分：结构、过程和结果。质量指标作为代理，证明是否达到了良好的质量，并可用于基准目的。本文重点介绍了结构、过程和结果质量的分类如何应用于DSD患者的护理。我们检讨基准测试的实施情况，以持续评估和改善国家层面对残疾人士的照顾，以及残疾人士研究如何为国际层面的基准测试提供信息。

引用次数: 0

Strategies for improving the knowledge of patients and carers 提高患者和护理人员知识的策略。

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.2025.102025

Uta Neumann

Treating people with a difference of sex development requires a multidisciplinary team. In recent years, knowledge of diagnoses and approaches to support and treatment have both evolved. To enable people with DSD to make informed decisions about medical treatments related to their diagnosis, they and their legal guardians must be provided with comprehensive information. This knowledge transfer is based on a multimodal strategy incorporating individual counselling from endocrinologists and psychologists, group training to enhance understanding and coping strategies, peer counselling with case studies, and the use of digital, visual, and written educational materials. Decision-making aids provide clarity in complex medical decisions and facilitate long-term understanding of the decisions made. Sustainable education requires continuous training for professionals, covering topics such as the legal framework in individual countries, cultural aspects that may influence families' decisions, and language skills. Future research should evaluate the long-term impact of structured knowledge transfer programmes.

治疗性别发育不同的人需要一个多学科的团队。近年来，诊断知识以及支持和治疗方法都得到了发展。为了使患有残疾的人能够就与其诊断有关的医疗作出知情决定，必须向他们及其法定监护人提供全面的信息。这种知识转移基于一种多模式策略，包括来自内分泌学家和心理学家的个人咨询，加强理解和应对策略的小组培训，案例研究的同伴咨询，以及数字、视觉和书面教育材料的使用。决策辅助工具为复杂的医疗决策提供清晰度，并促进对所作决定的长期理解。可持续教育要求对专业人员进行持续培训，内容包括各国的法律框架、可能影响家庭决定的文化方面以及语言技能等主题。未来的研究应该评估结构化知识转移项目的长期影响。

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Fluid and electrolyte disorders following traumatic brain injury 外伤性脑损伤后体液和电解质紊乱。

IF 6.1 1区医学 Q1 ENDOCRINOLOGY & METABOLISM

Best practice & research. Clinical endocrinology & metabolism

Pub Date : 2025-05-01 DOI: 10.1016/j.beem.2025.102014

Maria Tomkins , Deirdre Green , Michael W. O’Reilly , Mark Sherlock

Abnormalities in salt and water balance are common following traumatic brain injury (TBI), manifesting clinically as either as hypo- or hypernatraemia. Dysnatraemia is associated with a greater risk of secondary brain injury from resultant changes in brain fluid levels, greater morbidity, longer length of hospital stay and in the case of hypernatraemia, greater mortality following TBI. Dysnatraemia occurs in the acute phase following TBI, is often transient and resolves in the majority of patients with recovery from the initial insult. Hyponatraemia secondary to the syndrome of inappropriate antidiuretic hormone is the commonest electrolyte disturbance following TBI although, iatrogenic causes and ACTH deficiency are important differentials to consider. Cerebral salt wasting syndrome is a rare cause of hyponatraemia following TBI. Acute symptomatic hyponatraemia predisposes to seizures and cerebral oedema and may be catastrophic, particularly if inappropriately treated. Hypernatraemia following TBI is most often due to AVP deficiency (AVP-D) and is an independent predictor of mortality. AVP-D is related to the severity of injury and is a poor prognostic indicator following TBI, often heralding rising intracranial pressure and death. In both hypo- and hypernatraemia early detection and prompt appropriate management is often life-saving. In this review we will discuss the pathophysiology of salt and water disorders following traumatic brain injury and provide detailed guidance on the approach to hypo- and hypernatraemia in this context.

盐和水平衡异常在创伤性脑损伤（TBI）后很常见，临床表现为低钠血症或高钠血症。钠血症异常与脑外伤后继发性脑损伤的更大风险、更高的发病率、更长的住院时间以及在高钠血症情况下更高的死亡率相关。钠血症异常发生在脑外伤后的急性期，通常是短暂的，大多数患者从最初的损伤中恢复后就会消退。低钠血症继发于不适当的抗利尿激素综合征是TBI后最常见的电解质紊乱，尽管医源性原因和ACTH缺乏是需要考虑的重要区别。脑盐消耗综合征是脑外伤后低钠血症的罕见病因。急性症状性低钠血症易引起癫痫发作和脑水肿，特别是如果治疗不当，可能是灾难性的。脑外伤后的高钠血症通常是由于AVP缺乏（AVP- d），是死亡率的独立预测因子。AVP-D与损伤的严重程度有关，是TBI后预后较差的指标，通常预示着颅内压升高和死亡。在低钠血症和高钠血症中，早期发现和及时适当的治疗往往是挽救生命的。在这篇综述中，我们将讨论创伤性脑损伤后盐和水紊乱的病理生理学，并在这种情况下提供低钠血症和高钠血症的详细指导。

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