{"title":"Multiple endocrine neoplasia","authors":"Paul J. Newey","doi":"10.1016/j.mpmed.2025.07.002","DOIUrl":"10.1016/j.mpmed.2025.07.002","url":null,"abstract":"<div><div>Multiple endocrine neoplasia (MEN) describes the occurrence of tumours affecting two or more endocrine glands in one individual. Two main forms are recognized: type 1 (MEN1) and type 2 (MEN2). MEN1 is characterized by the combined occurrence of parathyroid, pituitary and pancreatic neuroendocrine tumours, whereas MEN2 features medullary thyroid cancer in association with phaeochromocytoma and parathyroid tumours. Although both MEN1 and MEN2 are autosomal dominant disorders, they have contrasting molecular aetiologies: MEN1 results from inactivating germline mutations of the <em>MEN1</em> tumour suppressor gene, whereas MEN2 results from activating mutations in the <em>RET</em> proto-oncogene. The clinical features arising in each condition relate to the location of tumour development and/or hormonal hypersecretion, while treatment approaches aim to minimize morbidity and mortality, and preserve quality of life. Genetic testing is a key component of management, both to confirm the diagnosis in affected individuals, and to identify family members who are at risk of disease but may be asymptomatic. It is recommended that those ‘at risk’ of developing MEN1 or MEN2 (i.e. mutation carriers) undergo periodic clinical, biochemical and radiological surveillance for the early identification and/or treatment of tumours. Here, a brief overview of MEN1 and MEN2 is provided.</div></div>","PeriodicalId":74157,"journal":{"name":"Medicine (Abingdon, England : UK ed.)","volume":"53 10","pages":"Pages 650-654"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145236338","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}
Emile Hendriks, Philippa Prentice, Mabrouka Al Towati, Rachel Williams
{"title":"Disorders of puberty","authors":"Emile Hendriks, Philippa Prentice, Mabrouka Al Towati, Rachel Williams","doi":"10.1016/j.mpmed.2025.07.001","DOIUrl":"10.1016/j.mpmed.2025.07.001","url":null,"abstract":"<div><div>Puberty is the process of development of adult secondary sexual characteristics. Disorders of puberty can be classified into early (precocious) and late (delayed) puberty. Early (precocious) puberty can be secondary to either activation of the hypothalamus–pituitary–gonadal axis (gonadotropin dependent or central) or altered regulation of sex hormone production in the gonads, adrenal glands or other tissues (gonadotropin independent or peripheral). Delayed puberty is most often constitutional, but hypogonadotropic (central) and hypergonadotropic (peripheral) hypogonadism should be considered. This article discusses the clinical and biochemical features of normal and abnormal puberty.</div></div>","PeriodicalId":74157,"journal":{"name":"Medicine (Abingdon, England : UK ed.)","volume":"53 10","pages":"Pages 699-701"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145236410","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}
{"title":"Hyperlipidaemia","authors":"Marina Minic-Novcic, Adrian Park","doi":"10.1016/j.mpmed.2025.07.006","DOIUrl":"10.1016/j.mpmed.2025.07.006","url":null,"abstract":"<div><div>Hyperlipidaemia is characterized by abnormally elevated total cholesterol, triglycerides (triacylglycerols) or both. Hyperlipidaemias can be primary (genetic) or secondary (acquired). Hypercholesterolaemia is a major underlying cause of atherosclerotic cardiovascular disease (ASCVD) and is broadly divided into polygenic and monogenic. Both are associated with increased risk of ASCVD, with lower CVD rates in the former group. The polygenetic group often responds to dietary and lifestyle modification alone, although pharmacological interventions are also used. Monogenic (familial) hypercholesterolaemia always requires pharmacological treatment. Hypertriglyceridaemia is to a lesser degree associated with ASCVD risk. However, the principal clinical concern in hypertriglyceridaemia is increased risk of acute pancreatitis with triglyceride concentrations >10.0 mmol/litre. The primary screening test for hyperlipidaemia is a non-fasting full lipid profile. Serum apolipoproteins (apolipoproteins A1 B, lipoprotein (a)) are used for classifying ASCVD risk. Management includes lifestyle modification, lipid-lowering drugs and treatment of secondary causes, where applicable. Statins are first-line treatment. For primary prevention, 10-year CVD risk assessment is recommended before commencing statins. Patients with a more complex picture have access to new cholesterol-lowering drugs, including proprotein convertase subtilisin/kexin type 9 inhibitors (PCSK9i), inclisiran and bempedoic acid. In hypertriglyceridaemia, management options include lifestyle modifications, fibrates, statins and omega-3 fatty acid.</div></div>","PeriodicalId":74157,"journal":{"name":"Medicine (Abingdon, England : UK ed.)","volume":"53 10","pages":"Pages 702-708"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145236411","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}
{"title":"Carcinoid syndrome and neuroendocrine tumours","authors":"Gabriela Mihai, Maralyn Druce","doi":"10.1016/j.mpmed.2025.07.011","DOIUrl":"10.1016/j.mpmed.2025.07.011","url":null,"abstract":"<div><div>Neuroendocrine neoplasms (NENs) are relatively rare tumours arising from neuroendocrine cells, commonly in the gastrointestinal tract, with small intestine NENs (SI-NENs) being the most frequent primary site. SI-NENs frequently metastasize to the liver and approximately 30% of patients present with carcinoid syndrome. Imaging of SI-NENs typically reveals mesenteric fibrosis around a mesenteric mass. The diagnosis is confirmed by histology. Functional imaging (e.g. <sup>68</sup>Ga-DOTA-somatostatin analogue positron emission tomography/computed tomography) is important for tumour staging. Management requires a multidisciplinary approach. General treatment principles include therapies aimed at symptom control versus disease modification, including surgery (with curative or debulking intent), as well as targeted or systemic therapy.</div></div>","PeriodicalId":74157,"journal":{"name":"Medicine (Abingdon, England : UK ed.)","volume":"53 10","pages":"Pages 655-659"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145236339","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}
{"title":"A developmental genetic approach to understanding skeletal metabolism and anatomy","authors":"B Paul Wordsworth","doi":"10.1016/j.mpmed.2025.08.001","DOIUrl":"10.1016/j.mpmed.2025.08.001","url":null,"abstract":"<div><div>The most obvious function of the skeleton is to provide support and protection for the body. Its role as an endocrine organ is well recognized but extends from providing a valuable reservoir of minerals – notably calcium and phosphate – to include functions in regulating global energy homeostasis, particularly in altering insulin sensitivity. Healthy bone undergoes extensive remodelling throughout life through the action of bone-resorbing osteoclasts and bone-forming osteoblasts coordinated by osteocytes embedded in the bone matrix that sense the stresses acting on the skeleton. Genetic factors play a key role in many processes of bone development and regulation. Investigation of animal models and rare human genetic diseases has yielded major insights into many aspects of bone biology, which in some cases has led to the development of new strategies for treating metabolic bone diseases (e.g. osteoporosis, X-linked hypophosphataemia). The process of bone mineralization is incompletely understood but involves local regulation of inorganic phosphate and pyrophosphate ratios as well as other local inhibitors of phosphate mineralization. This article gives examples of some of the genetic factors that cause abnormal bone metabolism, including osteoporosis, osteomalacia, hyperostosis and ectopic ossification.</div></div>","PeriodicalId":74157,"journal":{"name":"Medicine (Abingdon, England : UK ed.)","volume":"53 10","pages":"Pages 683-688"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145236344","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}
{"title":"Menopause: diagnosis and management","authors":"Sarah Burd, Guy Morris","doi":"10.1016/j.mpmed.2025.07.005","DOIUrl":"10.1016/j.mpmed.2025.07.005","url":null,"abstract":"<div><div>Menopause is the permanent cessation of menstruation that results from loss of ovarian follicular activity. It marks the end of a woman's reproductive years and a fall in circulating oestrogen, progesterone and testosterone produced by the ovaries. The decrease in oestrogen affects multiple organs systems and can affect the management or course of medical co-morbidities. Hormone replacement therapy is an effective treatment for menopausal symptoms but is not without risk. With an increasingly ageing population with co-morbid conditions, it is essential for physicians to understand the physiological changes that occur during menopause and how to manage difficult or high-risk scenarios effectively. This article provides a review of the menopause, including diagnostic approaches, treatments and strategies for managing complex cases.</div></div>","PeriodicalId":74157,"journal":{"name":"Medicine (Abingdon, England : UK ed.)","volume":"53 10","pages":"Pages 644-649"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145236337","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}
{"title":"Self-assessment/CPD answers","authors":"","doi":"10.1016/j.mpmed.2025.07.015","DOIUrl":"10.1016/j.mpmed.2025.07.015","url":null,"abstract":"","PeriodicalId":74157,"journal":{"name":"Medicine (Abingdon, England : UK ed.)","volume":"53 10","pages":"Pages 714-718"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145236332","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}
{"title":"Hypercalcaemia and primary hyperparathyroidism","authors":"Vernon J Parfitt","doi":"10.1016/j.mpmed.2025.07.010","DOIUrl":"10.1016/j.mpmed.2025.07.010","url":null,"abstract":"<div><div>Hypercalcaemia is common. Around 90% of cases are caused by one of two conditions: primary hyperparathyroidism (PHPT), the most common cause in outpatient settings and typically detected incidentally on blood tests; or malignancy, usually already overt and the most common cause in hospital inpatients. Clinical context and key investigations, particularly serum parathyroid hormone, lead to the cause. For hypercalcaemia of malignancy needing treatment, guidelines recommend intravenous bisphosphonate or denosumab initially, with calcitonin added if necessary. The latest management guidelines for PHPT are from the 5th International Workshop on the Evaluation and Management of Primary Hyperparathyroidism (2022) and the UK National Institute for Health and Care Excellence (2019). Long-term effects of monitored and untreated PHPT are increasingly recognized so parathyroid surgery is increasingly used outside its specific indications in individuals aged 50–70 years. There are updated guidelines on screening for genetic causes of PHPT before parathyroid surgery, as this can influence the type of surgery. Unsuccessful primary parathyroidectomy (5–10%) should be managed by a specialist multidisciplinary team.</div></div>","PeriodicalId":74157,"journal":{"name":"Medicine (Abingdon, England : UK ed.)","volume":"53 10","pages":"Pages 673-677"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145236342","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}
{"title":"Hypocalcaemia","authors":"Zahra Ravat, Zaki Hassan-Smith, Neil Gittoes","doi":"10.1016/j.mpmed.2025.07.007","DOIUrl":"10.1016/j.mpmed.2025.07.007","url":null,"abstract":"<div><div>Hypocalcaemia is encountered in all areas of clinical practice: in primary care, where vitamin D deficiency is often the cause, and in unselected secondary care, where hypocalcaemia has a prevalence of 18%, rising to 85% in intensive care environments. An understanding of the physiological basis of calcium homoeostasis is essential for deciphering the causes of underlying hypocalcaemia. Awareness of the clinical presentation, differential diagnosis and treatment of hypocalcaemia is important. Hypocalcaemia is potentially life-threatening and carries the risk of serious errors in management. It can be an asymptomatic laboratory finding or a life-threatening metabolic disturbance. Acute hypocalcaemia can result in severe symptoms that indicate a medical emergency requiring rapid admission to hospital and correction with intravenous calcium. In contrast, when hypocalcaemia develops slowly, even if it is quantitatively severe, patients can be surprisingly free of classical symptoms. This article covers essential aspects of the physiological regulation of calcium and offers practical clinical advice on investigating, diagnosing and treating common (and less common) causes of hypocalcaemia. Treatment advice is proposed for acute hypocalcaemia, vitamin D deficiency and management of hypoparathyroidism, where new therapies have emerged.</div></div>","PeriodicalId":74157,"journal":{"name":"Medicine (Abingdon, England : UK ed.)","volume":"53 10","pages":"Pages 678-682"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145236343","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}
{"title":"Disorders of growth","authors":"Nicola Bridges, Kyriaki Alatzoglou","doi":"10.1016/j.mpmed.2025.07.014","DOIUrl":"10.1016/j.mpmed.2025.07.014","url":null,"abstract":"<div><div>Most children who have short or tall stature are healthy and just at the extremes of the normal range. Plotting a child on a centile chart and following the growth pattern over time helps to assess whether the pattern of growth is normal – a normal growth pattern confirms that the hormonal control of growth is normal. During puberty, sex steroids stimulate growth directly and increase growth hormone (GH) secretion, leading to the pubertal growth spurt. Any short child whose pattern of growth is abnormal (reduced growth velocity) should be investigated. GH treatment is indicated for GH deficiency and a number of other defined short stature conditions. Most children referred to the clinic with concerns about growth will not benefit from GH treatment but media and internet information means that GH is often the focus of discussions.</div></div>","PeriodicalId":74157,"journal":{"name":"Medicine (Abingdon, England : UK ed.)","volume":"53 10","pages":"Pages 694-698"},"PeriodicalIF":0.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145236346","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}
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