{"title":"Genetics of Phaeochromocytomas, Paragangliomas, and Neuroblastoma","authors":"E. Maher, R. Casey","doi":"10.1093/med/9780198870197.003.0097","DOIUrl":"https://doi.org/10.1093/med/9780198870197.003.0097","url":null,"abstract":"Phaeochromocytomas, paragangliomas, and neuroblastomas are the main primary tumours that arise from the autonomic nervous system. The autonomic nervous system is subdivided into the sympathetic and parasympathetic systems. Phaeochromocytomas arise from sympathetic nervous system (chromaffin) cells in the adrenal medulla. Paragangliomas may arise from the sympathetic or parasympathetic system. The former, previously known as extra-adrenal phaeochromocytomas but referred herein as paragangliomas, typically occur along the sympathetic chain and, like phaeochromocytomas, are usually secretory and most commonly present with symptoms of excess catecholamine secretion. Parasympathetic ganglia-derived paragangliomas (herein referred to as head and neck paraganglioma, HNPGL) develop along branches of the vagal and glossopharyngeal nerves (e.g. carotid body tumours, glomus jugulare) and are only rarely secretory. Phaeochromocytoma, paraganglioma, and HNPGL are rare in childhood but neuroblastomas, which are derived from neuroblasts in the developing sympathetic nervous system and are most common in children under the age of 5 years. Familial forms of neuroblastoma are rare but a major feature of phaeochromocytoma and paraganglioma (PPGL) and HNPGL is the high frequency of inherited cases and the major inherited syndromic and non-syndromic disorders that predispose to these tumours are described in Chapter 6.13.","PeriodicalId":130301,"journal":{"name":"Oxford Textbook of Endocrinology and Diabetes 3e","volume":"17 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123352245","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":"Effect of Opioids on Adrenal and Reproductive Endocrinology","authors":"E. Armeni, A. Grossman, B. Khoo","doi":"10.1093/med/9780198870197.003.0211","DOIUrl":"https://doi.org/10.1093/med/9780198870197.003.0211","url":null,"abstract":"Endogenous opioids and opioid receptors play key neuroendocrinological roles in regulating the body’s response to stress and pain. As part of this function, endogenous opioids regulate the hypothalamo–pituitary–adrenal (HPA), hypothalamo—pituitary–gonadal axes (HPG) axes and posterior pituitary function. Exogenous opioids have been used from ancient times as analgesics but have a well-known addictive potential. Opiate dependency is now a widespread global problem, driven by the easy availability of both prescribed and illegal opiates. As a consequence, the endocrine complications from opiates are becoming more common and chronic opiate users are at high risk of developing hypoadrenalism and hypogonadism. A robust screening protocol for these endocrinopathies, in collaboration between pain specialists and endocrinologists, is essential for appropriate replacement treatment and the prevention of morbidities and possibly mortality, especially from hypoadrenalism.","PeriodicalId":130301,"journal":{"name":"Oxford Textbook of Endocrinology and Diabetes 3e","volume":"55 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124783233","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":"Endocrine Abnormalities in HIV Infection","authors":"S. Grinspoon, T. Stanley","doi":"10.1093/med/9780198870197.003.0207","DOIUrl":"https://doi.org/10.1093/med/9780198870197.003.0207","url":null,"abstract":"Treated and untreated human immunodeficiency virus (HIV) infection is associated with perturbations in body composition and in the function of the endocrine axes. In advanced stages of disease, individuals with untreated HIV may have wasting, decreased lean mass, and abnormalities of multiple endocrine axes, including growth hormone (GH) resistance, androgen deficiency, oligo- or amenorrhea in women, and impaired adrenal function. By contrast, individuals with well-treated HIV often experience weight gain and ectopic fat accumulation. Whereas frank endocrine abnormalities are less common in people with well-treated HIV, cardiometabolic abnormalities such as insulin resistance, dyslipidaemia, and non-alcoholic fatty liver disease are relatively common. Finally, bone mineral density may be reduced, and cardiovascular risk is increased in individuals with HIV, in large part due to the immune dysregulation and persistent inflammation that accompanies even treated HIV. Appropriate care for individuals with HIV includes evaluation of any potential signs or symptoms of endocrine dysregulation as well as assessment and management of cardiovascular risk factors.","PeriodicalId":130301,"journal":{"name":"Oxford Textbook of Endocrinology and Diabetes 3e","volume":"9 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122952192","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":"Management of Adrenal Insufficiency","authors":"W. Arlt","doi":"10.1093/med/9780198870197.003.0103","DOIUrl":"https://doi.org/10.1093/med/9780198870197.003.0103","url":null,"abstract":"In 1855, Thomas Addison identified a clinical syndrome characterized by wasting and hyperpigmentation as the result of adrenal gland destruction. This landmark observation paved the way for progress in understanding and treating adrenal insufficiency, with the introduction of adrenal extracts for treatment of Addison’s disease by the groups of Hartman and Pfiffner in 1929. However, long-term survival of patients with adrenal insufficiency only became possible after the seminal work of Edward Kendall, Philip Hench, and Tadeus Reichstein on the characterization and therapeutic use of cortisone. In 1946, Lewis Sarrett, a Merck scientist, achieved a partial synthesis of cortisone, which marked the beginning of industrial-scale production of cortisone. In 1948, in a fundamental clinical experiment at the Mayo Clinic, the first patient with Addison’s received intravenous injections of Kendall’s Compound E, cortisone, resulting in ‘notable improvement of his condition’. This was followed by ground-breaking trials on the use of cortisone in rheumatoid arthritis. In November 1950, cortisone was made available to all physicians in the United States, which culminated in the award of the 1950 Nobel Prize in Medicine to Kendall, Hench, and Reichstein. This progress reached other countries and widespread availability of cortisone in the United Kingdom was achieved by joint efforts of Glaxo and the Medical Research Council. Though almost 150 years have passed since Addison’s landmark observations and 60 years since the introduction of life-saving cortisone, there are still advances and challensges in the management of adrenal insufficiency, summarized in this chapter.","PeriodicalId":130301,"journal":{"name":"Oxford Textbook of Endocrinology and Diabetes 3e","volume":"37 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114950085","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":"Familial Syndromes and Genetic Causes of Paraganglioma and Phaeochromocytoma","authors":"E. Maher, R. Casey","doi":"10.1093/med/9780198870197.003.0119","DOIUrl":"https://doi.org/10.1093/med/9780198870197.003.0119","url":null,"abstract":"A phaeochromocytoma is a tumour arising from the adrenal medulla and a paraganglioma refers to its extra-adrenal counterpart, which can develop from sympathetic or parasympathetic tissue anywhere from the skull base to the pelvis. Phaeochromocytomas and paragangliomas (PPGL) are considered to be the most heritable tumours as up to 40% of patients who develop these tumours have a hereditary predisposition. This chapter provides an update on the clinical and molecular genetics of PPGL and related syndromes, as well as offering a guideline for genetic testing and surveillance of those individuals identified as carriers for a known PPGL predisposition gene.","PeriodicalId":130301,"journal":{"name":"Oxford Textbook of Endocrinology and Diabetes 3e","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122804141","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":"Short Stature in Children Born Small for Gestational Age","authors":"A. Hokken-Koelega","doi":"10.1093/med/9780198870197.003.0182","DOIUrl":"https://doi.org/10.1093/med/9780198870197.003.0182","url":null,"abstract":"Small-for-gestational-age (SGA) is defined as a birth weight and/or length <–2 SDS. As the aetiology of SGA is multifactorial and includes maternal lifestyle and obstetric factors, placental dysfunction, and numerous (epi)genetic abnormalities, SGA-born children comprise a heterogeneous group. The majority of SGA-born infants show catch-up growth to a normal stature, but 10% remains short. For more than 30 years, studies have been performed in short children after SGA birth, including children with Silver–Russell syndrome (SRS). Studies have generally excluded short SGA children with major dysmorphic features or a (suspected) syndrome, primordial dwarfism, or DNA repair disorder. Thus present knowledge and management, particularly on GH treatment, are based on the results in non-syndromic short SGA/SRS children. This chapter presents our current knowledge of the (epi)genetic causes of short stature for those born SGA, the health consequences of SGA, and the diagnostic approach and management of short SGA-born children, including the efficacy and safety of GH treatment.","PeriodicalId":130301,"journal":{"name":"Oxford Textbook of Endocrinology and Diabetes 3e","volume":"5 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123914059","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":"Gastrinoma","authors":"C. Toumpanakis, M. Caplin","doi":"10.1093/med/9780198870197.003.0111","DOIUrl":"https://doi.org/10.1093/med/9780198870197.003.0111","url":null,"abstract":"Gastrinomas are functional neuroendocrine tumours, characterized by autonomous release of gastrin by the tumour cells, which results in symptoms not only due to the tumour growth per se, but also due to gastric acid hypersecretion. Gastrinomas can either be sporadic or can be associated with multiple endocrine neoplasia type 1 (MEN-1) syndrome in 25% of cases. The duodenum (especially the first and the second part) is the most common location for both sporadic and MEN-1 associated gastrinomas. Most of the symptoms in patients with gastrinomas include peptic ulcers resistant to treatment, erosive oesophagitis, and chronic diarrhoea. Fasting serum gastrin levels of >10-fold the upper normal limit in the presence of gastric p H<2 or basal acid output (BAO)>15 mmol/h confirm the clinical suspicion, of a gastrinoma. Precise localization of primary tumour as well as metastatic deposits can be achieved through the new molecular imaging studies (68Ga-DOTA PET) in combination with good quality cross-sectional imaging studies and endoscopic ultrasound. Once the diagnosis is established, it is important to control gastric acid hypersecretion and prevent its complications, by using high-doses proton pump inhibitors. The aim of surgery in patients with sporadic gastrinomas is curative resection, in order to decrease the risk of development of distant metastases, as well as to completely control the hormonal symptoms. The benefit of surgery in gastrinomas associated with MEN-1 syndrome is controversial. All patients with advanced and inoperable disease should have systemic antitumour treatment (somatostatin analogues, molecular targeted agents, chemotherapy, peptide receptor radionuclide therapy) in order to prolong the survival rates.","PeriodicalId":130301,"journal":{"name":"Oxford Textbook of Endocrinology and Diabetes 3e","volume":"110 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124243982","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":"Management of Idiopathic Male Infertility","authors":"H. Tournaye, B. Popovic-Todorovic","doi":"10.1093/med/9780198870197.003.0491","DOIUrl":"https://doi.org/10.1093/med/9780198870197.003.0491","url":null,"abstract":"Male reproductive deficiency may result from factors that affect sperm production, sperm quality and function, or sperm transport. However, in about 30–40% of men the cause for these impairments remain unexplained, but increasingly, genetic causes are being discovered. In general, although largely unproven, a healthy lifestyle may improve sperm quality. Currently, there is no evidence of beneficial effect of food supplements and oral antioxidant preparations in management of idiopathic male infertility. Empiric hormonal treatment has no role in unexplained male infertility. Assisted reproduction technologies (ART) are relatively successful and increasingly used as the management of choice in the idiopathic male infertility.","PeriodicalId":130301,"journal":{"name":"Oxford Textbook of Endocrinology and Diabetes 3e","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125902058","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":"Endocrinology, Sleep, and Circadian Rhythms","authors":"G. Brabant, H. Oster","doi":"10.1093/med/9780198870197.003.0011","DOIUrl":"https://doi.org/10.1093/med/9780198870197.003.0011","url":null,"abstract":"Hormonal signalling is a central component of the regulation of sleep, behaviour, and multiple other physiological processes aligned with external time cues through endogenous circadian clocks. Endocrine feedback to the circadian clock is exerted via key systems and supports the robustness of endogenous rhythmicity. It is challenged by multiple modern lifestyle factors such as shift work, light pollution, or high-calorie diets which may alter this delicate balance and shift physiological set points. The following chapter summarizes current knowledge on the underlying mechanisms controlling this interregulation of circadian timing, sleep, and the endocrine system, and what disorders may be caused by its imbalance.","PeriodicalId":130301,"journal":{"name":"Oxford Textbook of Endocrinology and Diabetes 3e","volume":"6 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128519298","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":"Molecular Aspects of Hormone Regulation","authors":"K. Siddle, G. Brierley","doi":"10.1093/med/9780198870197.003.0003","DOIUrl":"https://doi.org/10.1093/med/9780198870197.003.0003","url":null,"abstract":"Hormones travel in the bloodstream to exert effects on target tissues, which are often anatomically remote from the site of hormone secretion. They achieve this by binding and activating receptors, which usually are highly selective or specific. Receptors are grouped into several families according to their molecular structure and mechanism of action. Common classes of receptors important in endocrinology include cell surface G-protein-coupled receptors, receptor tyrosine kinases, and cytokine-like receptors, and intracellular nuclear hormone receptors. In this chapter the basic anatomy of the signalling pathways emanating from these receptors is described, and the principles and mechanisms of information coding and transmission, and how these may go awry in endocrine disease, are discussed.","PeriodicalId":130301,"journal":{"name":"Oxford Textbook of Endocrinology and Diabetes 3e","volume":"43 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131371843","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}