Medicine (Abingdon, England : UK ed.)最新文献

英文中文

Hypothyroidism 甲状腺功能减退

Medicine (Abingdon, England : UK ed.)

Pub Date : 2025-09-01 DOI: 10.1016/j.mpmed.2025.06.015

Sri Ramya Ganti , Suhani Bahl , Ornrapee Kiticharoensak, Peter Taylor

Hypothyroidism is a common endocrine disorder resulting from deficient thyroid hormone production. It presents on a clinical spectrum ranging from asymptomatic to severe manifestations such as myxoedema coma. Primary hypothyroidism, accounting for >99% of cases, typically results from autoimmune thyroiditis (e.g. Hashimoto's thyroiditis) or iatrogenic causes. Central and extrathyroidal forms are rare. Diagnosis primarily relies on elevated serum thyroid-stimulating hormone (TSH) concentrations and reduced free thyroxine (FT4) concentrations. Levothyroxine remains the cornerstone of treatment, aiming to return TSH concentrations to normal and alleviate symptoms. However, a proportion of patients remain symptomatic despite biochemical correction, leading to continuing debate about alternative therapies including liothyronine or desiccated thyroid extract. Subclinical hypothyroidism, with elevated TSH and normal FT4 concentrations, poses a treatment dilemma, although therapy is often considered in younger individuals, those with symptoms or women planning pregnancy. Key management principles include dose individualization, awareness of drug interactions and the importance of the correct timing of administration to optimize absorption. Special considerations apply to populations such as pregnant women, elderly individuals and patients with myxoedema coma. Updated guidance supports a tailored approach to diagnosis and treatment to prevent both under- and overtreatment.

甲状腺功能减退症是一种常见的内分泌疾病，由甲状腺激素分泌不足引起。它的临床表现从无症状到严重的表现，如黏液水肿昏迷。原发性甲状腺功能减退，占99%的病例，通常由自身免疫性甲状腺炎（如桥本甲状腺炎）或医源性原因引起。中央和甲状腺外的形式是罕见的。诊断主要依靠血清促甲状腺激素（TSH）浓度升高和游离甲状腺素（FT4）浓度降低。左旋甲状腺素仍然是治疗的基础，旨在使TSH浓度恢复正常并缓解症状。然而，尽管进行了生化矫正，仍有一部分患者仍有症状，这导致了对包括碘甲状腺原氨酸或干燥甲状腺提取物在内的替代疗法的持续争论。亚临床甲状腺功能减退，伴有TSH升高和FT4浓度正常，使治疗陷入困境，尽管治疗通常被认为适用于年轻人、有症状者或计划怀孕的妇女。关键的管理原则包括剂量个体化，药物相互作用的认识和正确的给药时间以优化吸收的重要性。特别要注意的是孕妇、老年人和黏液水肿昏迷患者。最新的指南支持有针对性的诊断和治疗方法，以防止治疗不足和过度治疗。

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引用次数: 0

Acromegaly 肢端肥大症

Medicine (Abingdon, England : UK ed.)

Pub Date : 2025-09-01 DOI: 10.1016/j.mpmed.2025.06.009

Craig E Stiles, Belayet Hossain, Willliam M Drake

Acromegaly is a rare, chronic, debilitating condition. Untreated, it causes significant morbidity and reduces life expectancy by about 10 years. The disease process is insidious, and early presenting features can be non-specific (e.g. sweating, fatigue). Physicians, dentists and surgeons should consider this diagnosis if any of the classically recognized features are present (e.g. dental malocclusion, carpal tunnel syndrome, sleep apnoea, type 2 diabetes mellitus without a family history). Timely diagnosis is important because surgery can be curative. Surgical outcomes vary widely depending on adenoma size (≥90% for pituitary microadenomas versus 40–45% for macroadenomas; lower for locally invasive tumours); this is in turn related to disease duration. Diagnosis is based on three key findings: clinical features, elevated age-adjusted serum insulin-like growth factor 1 and a serum growth hormone nadir >0.3 micrograms/litre after an oral glucose challenge. Once biochemically confirmed, magnetic resonance imaging of the pituitary is performed to assess the size and regional anatomy in anticipation of future surgery. Medical control of acromegaly has improved, with the introduction of long-acting somatostatin analogues and the growth hormone receptor antagonist pegvisomant. Radiation therapy is a potential adjuvant therapy for individuals with residual disease, but can take 5–10 years to have full effect.

肢端肥大症是一种罕见的慢性衰弱疾病。如果不治疗，它会导致严重的发病率，并使预期寿命缩短约10年。疾病过程隐匿，早期表现为非特异性（如出汗、疲劳）。医生、牙医和外科医生应考虑这一诊断，如果任何经典公认的特征存在（如牙齿错颌、腕管综合征、睡眠呼吸暂停、2型糖尿病无家族史）。及时诊断很重要，因为手术可以治愈。腺瘤大小不同，手术结果差异很大（垂体微腺瘤≥90%，大腺瘤≥40-45%，局部侵袭性肿瘤更低）；这反过来又与疾病持续时间有关。诊断基于三个关键发现：临床特征、经年龄调整的血清胰岛素样生长因子1升高和口服葡萄糖刺激后血清生长激素最低点0.3微克/升。一旦生物化学证实，进行垂体磁共振成像以评估大小和区域解剖，以预测未来的手术。随着长效生长抑素类似物和生长激素受体拮抗剂pegvisomant的引入，肢端肥大症的医学控制得到了改善。放射治疗是一种潜在的辅助治疗，但可能需要5-10年才能完全发挥作用。

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引用次数: 0

Diagnosis of pituitary disease 垂体疾病的诊断

Medicine (Abingdon, England : UK ed.)

Pub Date : 2025-09-01 DOI: 10.1016/j.mpmed.2025.06.006

Cristina Guillén Morote, Athanasios Fountas, Niki Karavitaki

The prevalence of pituitary disease is increasing mainly because of advances in modern imaging techniques and an increased awareness among the medical community. Pituitary tumours constitute 10–15% of all diagnosed intracranial neoplasms, and their clinical manifestations result from local mass effects (mostly neurological, visual, hypopituitarism) and/or hypersecretion. Pituitary adenomas are the most common pituitary tumours and are clinically classified as functioning or non-functioning. Most are sporadic, but in rare cases they can be related to hereditary syndromes. Other lesions involving the (para)sellar region include inflammatory and infiltrative diseases, cysts, primary or metastatic neoplasms, abscesses and internal carotid artery aneurysms. The clinical manifestations of hypopituitarism depend mainly on the type, number and severity of hormonal deficits. Establishing the diagnosis requires hormonal measurements (basal or after dynamic tests), and management includes relevant hormonal replacement and life-long monitoring.

脑下垂体疾病的发病率正在增加，主要是因为现代成像技术的进步和医学界对这一疾病认识的提高。垂体肿瘤占所有诊断颅内肿瘤的10-15%，其临床表现为局部肿块效应（主要是神经、视觉、垂体功能减退）和/或分泌亢进。垂体腺瘤是最常见的垂体肿瘤，临床上分为功能性和非功能性。大多数是散发的，但在极少数情况下，它们可能与遗传综合征有关。涉及鞍区（旁）的其他病变包括炎症性和浸润性疾病、囊肿、原发性或转移性肿瘤、脓肿和颈内动脉瘤。垂体功能减退症的临床表现主要取决于激素缺乏的类型、数量和严重程度。确定诊断需要激素测量（基础或动态测试后），管理包括相关的激素替代和终身监测。

引用次数: 0

Congenital adrenal hyperplasia 先天性肾上腺增生

Medicine (Abingdon, England : UK ed.)

Pub Date : 2025-09-01 DOI: 10.1016/j.mpmed.2025.06.016

Sophie A Clarke, Ieuan A Hughes

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder of adrenal corticosteroid biosynthesis affecting 1/10,000–1/15,000 live births. The most common form is 21-hydroxylase deficiency caused by variants in CYP21A2. CAH classically presents at birth with atypical genitalia in an affected girl. Salt loss, which can be life-threatening, is the only sign in an affected newborn boy. An adolescent girl with CAH has a syndrome of hirsutism, acne and irregular periods. Treatment aims to replace adequate amounts of glucocorticoid and mineralocorticoid hormones, but avoid adverse effects such as growth suppression in childhood, and obesity and adverse metabolic profile in adult life. Serum 17OH-progesterone and adrenal androgens are increased in CAH because of 21-hydroxylase deficiency and can be useful markers to monitor treatment. Genital surgery has typically been performed around 12–18 months of age if a reduction in clitoral size is needed. However, this can damage nerves and affect later sexual function and there is concern about consent. Vaginoplasty can be deferred until puberty. Prenatal diagnosis has been refined by early non-invasive genetic testing but dexamethasone to prevent virilization of an affected female fetus is now seldom used because of concerns about long-term adverse effects.

先天性肾上腺皮质增生症（CAH）是一种肾上腺皮质类固醇生物合成常染色体隐性遗传病，影响1/10,000-1/15,000活产婴儿。最常见的形式是由CYP21A2变异引起的21-羟化酶缺乏症。典型的CAH在女孩出生时表现为非典型生殖器。可能危及生命的盐分流失是新生儿患病的唯一迹象。患有CAH的青春期女孩有多毛、痤疮和月经不规律的症状。治疗的目的是替换足量的糖皮质激素和矿皮质激素，但要避免不良反应，如儿童时期的生长抑制，以及成年后的肥胖和不良代谢特征。血清17oh -孕酮和肾上腺雄激素在CAH中升高，因为21-羟化酶缺乏，可以作为监测治疗的有用标志物。如果需要缩小阴蒂，通常在12-18个月大的时候进行生殖器手术。然而，这可能会损害神经，影响后来的性功能，而且还会让人担心是否同意。阴道成形术可以推迟到青春期。产前诊断已经通过早期的非侵入性基因检测得到改进，但由于担心长期的副作用，现在很少使用地塞米松来预防受影响的女性胎儿的男性化。

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引用次数: 0

Presentation of endocrine disease 内分泌疾病的表现

Medicine (Abingdon, England : UK ed.)

Pub Date : 2025-09-01 DOI: 10.1016/j.mpmed.2025.06.007

Amy E Morrison, Miles J Levy

Endocrine glands produce biologically active hormones, which exert their action throughout the body, at sites distant from their origin. The main glands comprising the endocrine system are the pituitary, adrenals, gonads, thyroid, parathyroids and pancreas. Symptoms can present because of gland hypofunction (hormone deficiency) or gland hyperfunction (hormone excess). Widespread sites of hormone action throughout the body result in symptoms that are often generalized, diffuse and non-specific, presenting diagnostic challenges. A thorough yet focused clinical history is key to guide optimal investigation. A detailed family history is important to identify genetic endocrine disease, and medication can cause endocrine hypo- or hyperfunction. Endocrine disease may be first diagnosed by a new clinician with a fresh pair of eyes who stands back and notices an endocrine syndrome or puts together a constellation of different aspects of a presentation to make a unifying endocrine diagnosis. Increased access to imaging means that incidental thyroid, pituitary and adrenal lesions are often the initial reason for endocrine referral. Endocrine emergencies are common, particularly electrolyte imbalances and acute presentations of thyroid, pituitary and adrenal disease. Insulin, corticosteroids and desmopressin are life-sustaining medications; omitting them can lead to harm or death.

内分泌腺产生具有生物活性的激素，这些激素在远离其起源的全身部位发挥作用。构成内分泌系统的主要腺体是垂体、肾上腺、性腺、甲状腺、甲状旁腺和胰腺。症状可由腺体功能减退（激素缺乏）或腺体功能亢进（激素过量）引起。全身广泛的激素作用部位导致的症状通常是全身性、弥漫性和非特异性的，这给诊断带来了挑战。一个全面而集中的临床病史是指导最佳调查的关键。详细的家族史对确定遗传性内分泌疾病很重要，药物可引起内分泌功能低下或亢进。内分泌疾病可能是由一个新的临床医生用一双新鲜的眼睛首先诊断出来的，他站在后面，注意到内分泌综合征，或者把一个表现的不同方面结合起来，做出一个统一的内分泌诊断。影像学检查的增加意味着偶发的甲状腺、垂体和肾上腺病变往往是内分泌转诊的最初原因。内分泌急症很常见，特别是电解质失衡和甲状腺、垂体和肾上腺疾病的急性表现。胰岛素、皮质类固醇和去氨加压素是维持生命的药物；忽略它们可能会导致伤害或死亡。

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引用次数: 0

Thyrotoxicosis 甲状腺毒症

Medicine (Abingdon, England : UK ed.)

Pub Date : 2025-09-01 DOI: 10.1016/j.mpmed.2025.06.012

Peter Novodvorsky, Amit Allahabadia

Thyrotoxicosis refers to symptoms and signs that arise from excess quantities of circulating thyroid hormones. It can be caused by hyperthyroidism – hyperfunction of the thyroid gland – or by other mechanisms, such as the destruction of thyroid follicles with release of thyroid hormones (thyroiditis) or excessive ingestion of thyroid hormones (thyrotoxicosis factitia). There are several causes of thyrotoxicosis, the most common being Graves' disease, followed by toxic nodular thyroid disease (toxic multinodular goitre, toxic adenoma) and thyroiditis of any aetiology. Establishing the underlying cause of thyrotoxicosis is essential for its management. Diagnosis relies on clinical observation, sensitive hormonal and immunological assays and the occasional use of thyroid scintigraphy. Management of thyrotoxicosis includes the use of anti-thyroid medication, β-adrenoceptor blocking agents, radioiodine, thyroid surgery or a combination of these. Management of thyrotoxicosis in pregnancy and the postpartum period requires special attention and expertise as the correct diagnosis and treatment can significantly influence the outcome of pregnancy and the well-being of the mother and the fetus or newborn.

甲状腺毒症是指由过量循环甲状腺激素引起的症状和体征。它可以由甲状腺功能亢进引起，也可以由其他机制引起，如释放甲状腺激素破坏甲状腺滤泡（甲状腺炎）或过量摄入甲状腺激素（功能性甲状腺中毒）。甲状腺毒症有多种病因，最常见的是格雷夫斯病，其次是中毒性甲状腺结节病（中毒性多结节甲状腺、中毒性腺瘤）和各种病因的甲状腺炎。确定甲状腺毒症的根本原因对其治疗至关重要。诊断依赖于临床观察，敏感的激素和免疫检测，偶尔使用甲状腺显像。甲状腺毒症的治疗包括使用抗甲状腺药物、β-肾上腺素受体阻滞剂、放射性碘、甲状腺手术或这些药物的组合。妊娠期和产后甲状腺毒症的管理需要特别关注和专业知识，因为正确的诊断和治疗可以显著影响妊娠结局和母亲、胎儿或新生儿的健康。

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引用次数: 0

Goitre and thyroid cancer 甲状腺肿和甲状腺癌

Medicine (Abingdon, England : UK ed.)

Pub Date : 2025-09-01 DOI: 10.1016/j.mpmed.2025.06.014

Jayati Churiwala, Aimee Di Marco, Fausto Palazzo

Goitre is the generic term for thyroid enlargement and encompasses both benign and malignant thyroid disease. As the clinical presentations of benign and malignant thyroid disease are similar, the aim of clinical assessment and investigations is to identify the small number of cancers among the more frequent non-malignant goitres. Key investigations include thyroid function tests, high-resolution ultrasonography and fine-needle aspiration cytology. Benign thyroid disease should require treatment only for dysfunction (i.e. hyperthyroidism), local compressive symptoms or occasionally aesthetic considerations. New non-surgical techniques such as thermal ablation are gathering popularity in selected patients with benign thyroid nodules. The treatment of thyroid cancer is multidisciplinary. For differentiated thyroid cancer it consists primarily of surgery selectively followed by radioiodine therapy and suppression of thyroid-stimulating hormone, with a degree and duration tailored to disease risk. Advanced malignancy and cancers refractory to standard treatment are increasingly managed with novel targeted therapies. In the UK the diagnosis and management of thyroid cancer have been centralized around a multidisciplinary team structure in order to improve outcomes. Recent developments in the management of thyroid cancer include the use of molecular biomarkers to identify malignancy in thyroid nodules, assist with prognostication and facilitate targeted therapy for advanced disease.

甲状腺肿是甲状腺肿大的通称，包括良性和恶性甲状腺疾病。由于良性和恶性甲状腺疾病的临床表现相似，临床评估和调查的目的是在较常见的非恶性甲状腺肿中识别少数癌症。重点检查包括甲状腺功能检查、高分辨率超声检查和细针穿刺细胞学检查。良性甲状腺疾病只需要治疗功能障碍（如甲状腺功能亢进）、局部压迫症状或偶尔的美学考虑。新的非手术技术，如热消融在选定的良性甲状腺结节患者中越来越受欢迎。甲状腺癌的治疗是多学科的。对于分化型甲状腺癌，主要包括选择性手术，然后是放射性碘治疗和抑制促甲状腺激素，其程度和持续时间根据疾病风险而定。晚期恶性肿瘤和标准治疗难治的癌症越来越多地通过新的靶向治疗来管理。在英国，甲状腺癌的诊断和管理已经集中在一个多学科的团队结构，以改善结果。甲状腺癌治疗的最新进展包括使用分子生物标志物识别甲状腺结节中的恶性肿瘤，协助预后和促进晚期疾病的靶向治疗。

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引用次数: 0

The endocrine laboratory 内分泌实验室

Medicine (Abingdon, England : UK ed.)

Pub Date : 2025-09-01 DOI: 10.1016/j.mpmed.2025.06.005

David S Church, David J Halsall

After selecting a clinical biochemistry test, there are three phases: (1) pre-analytical, during which the sample is collected, handled, transported, processed and stored before analysis; (2) analytical, in which the sample is analysed and a result produced; and (3) post-analytical, in which the result is reported and interpreted. A rudimentary understanding of endocrine laboratory terminology, the importance of optimized sample collection procedures, and the basis of reference ranges and clinical action limits, aids clinicians in arranging endocrine tests and interpreting hormone results.

临床生化试验选择后，有三个阶段：(1)分析前，样品在分析前进行采集、处理、运输、加工和储存；（二）分析的，对样品进行分析并得出结果；(3)后分析，即对结果进行报告和解释。对内分泌实验室术语的基本了解，优化样本采集程序的重要性，以及参考范围和临床作用极限的基础，有助于临床医生安排内分泌测试和解释激素结果。

引用次数: 0

Prolactin disorders 催乳激素紊乱

Medicine (Abingdon, England : UK ed.)

Pub Date : 2025-09-01 DOI: 10.1016/j.mpmed.2025.06.003

Niamh Martin

Hyperprolactinaemia can be physiological, pathological or drug induced. Elevated serum prolactin concentrations can cause secondary hypogonadism via inhibition of hypothalamic gonadotropin-releasing hormone and pituitary gonadotropins. Therefore, it is important to determine the pathological causes of hyperprolactinaemia, particularly prolactinoma. Female patients can present with galactorrhoea, menstrual irregularity and infertility, whereas male patients can present with symptoms of secondary hypogonadism. Notably, postmenopausal women and men often present with mass effects secondary to a large macroprolactinoma. Macroprolactin, representing <5% of circulating prolactin, is a polymeric form of prolactin with limited bioavailability and bioactivity. Macroprolactinaemia should be suspected in individuals with a raised prolactin concentration who lack typical features of hyperprolactinaemia. After confirming an elevated serum prolactin and excluding other physiological and pathological causes, pituitary magnetic resonance imaging should be performed to investigate the presence of a prolactinoma or non-prolactinoma pituitary tumour. Bromocriptine and cabergoline are the two dopamine agonists most commonly used to correct abnormal serum prolactin concentrations. Both cause tumour shrinkage in prolactinomas and restore gonadal function and fertility, but cabergoline is preferred as it is more effective and better tolerated. Although there are more safety data for bromocriptine than cabergoline, both are considered to be safe in pregnancy.

高泌乳素血症可由生理性、病理性或药物引起。血清催乳素浓度升高可通过抑制下丘脑促性腺激素释放激素和垂体促性腺激素引起继发性性腺功能减退。因此，确定高泌乳素血症，特别是泌乳素瘤的病理原因是很重要的。女性患者可表现为溢乳、月经不调、不孕症，而男性患者可表现为继发性性腺功能减退。值得注意的是，绝经后的女性和男性经常出现继发于大催乳素瘤的肿块效应。巨催乳素占循环催乳素的5%，是催乳素的聚合形式，生物利用度和生物活性有限。催乳素浓度升高而缺乏高催乳素血症的典型特征的个体应怀疑有大量催乳素血症。在确认血清催乳素升高并排除其他生理和病理原因后，应进行垂体磁共振成像检查是否存在催乳素瘤或非催乳素瘤垂体肿瘤。溴隐亭和卡麦角林是两种多巴胺激动剂，最常用于纠正血清催乳素浓度异常。这两种药物都能导致催乳素瘤的肿瘤缩小，恢复性腺功能和生育能力，但卡麦角林更有效，耐受性更好。尽管溴隐亭的安全性数据比卡麦角林多，但两者都被认为是安全的。

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引用次数: 0

Self-assessment/CPD answers 自我评价/ CPD答案

Medicine (Abingdon, England : UK ed.)

Pub Date : 2025-09-01 DOI: 10.1016/j.mpmed.2025.06.017

引用次数: 0

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