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Hypocalcaemic Disorders, Hypoparathyroidism, and Pseudohypoparathyroidism 低钙血症、甲状旁腺功能减退和假性甲状旁腺功能减退
Oxford Textbook of Endocrinology and Diabetes 3e Pub Date : 2021-07-01 DOI: 10.1093/med/9780198870197.003.0085
F. Hannan, B. Clarke, R. Thakker
{"title":"Hypocalcaemic Disorders, Hypoparathyroidism, and Pseudohypoparathyroidism","authors":"F. Hannan, B. Clarke, R. Thakker","doi":"10.1093/med/9780198870197.003.0085","DOIUrl":"https://doi.org/10.1093/med/9780198870197.003.0085","url":null,"abstract":"Hypocalcaemia ranges from an asymptomatic biochemical abnormality to a life-threatening disorder, and may be caused by vitamin D deficiency, chronic renal failure, hypomagnesaemia, hypoparathyroidism, and pseudohypoparathyroidism. Hypoparathyroidism may occur as part of a pluriglandular autoimmune disorder or a complex congenital defect, such as the autosomal dominant DiGeorge or Hypoparathyroidism-deafness-renal anomalies (HDR) syndromes. In addition, hypoparathyroidism may occur as an isolated endocrinopathy, with autosomal dominant, autosomal recessive, and X-linked inheritances. Molecular genetic studies of hypoparathyroidism have elucidated important roles for: transcription factors (e.g. TBX1, GATA3, GCMB, and AIRE), the tubulin-specific chaperone (TBCE), and the mitochondrial genome in determining parathyroid development and function; the calcium-sensing receptor (CaSR) and G-protein subunit α‎-11 (Gα‎11) in regulating extracellular calcium and parathyroid hormone (PTH) secretion; and PTH gene expression for synthesis and secretion of PTH. Pseudohypoparathyroidism, an autosomal dominant disorder associated with PTH resistance, is due to abnormalities of Gα‎s, which mediates PTH1 receptor signalling.","PeriodicalId":130301,"journal":{"name":"Oxford Textbook of Endocrinology and Diabetes 3e","volume":"112 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":"131809115","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: 1
Environmental Influences on Male Reproductive Health 环境对男性生殖健康的影响
Oxford Textbook of Endocrinology and Diabetes 3e Pub Date : 2021-07-01 DOI: 10.1093/med/9780198870197.003.0196
J. Toppari
{"title":"Environmental Influences on Male Reproductive Health","authors":"J. Toppari","doi":"10.1093/med/9780198870197.003.0196","DOIUrl":"https://doi.org/10.1093/med/9780198870197.003.0196","url":null,"abstract":"Environmental influences on male reproductive health has been well documented in wildlife and experimental animals, in which mechanisms of action have also been revealed. These examples provide robust evidence of adverse effects of endocrine-disrupting chemicals on male reproductive system. Human effects have been more difficult to pinpoint because of limitations in epidemiological observations, and the best evidence of reproductive toxicity in humans comes from occupational settings and environmental accidents. The general population is exposed to a multitude of chemicals simultaneously—thus mixture effects are of special interest. In utero exposures can cause the most harmful and irreversible effects in postnatal/adult life so that developmental and reproductive toxicities are meaningfully studied in tandem.","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":"131080007","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
Rickets and Osteomalacia (Acquired and Heritable Forms) 佝偻病和骨软化症(获得性和遗传性)
Oxford Textbook of Endocrinology and Diabetes 3e Pub Date : 2021-07-01 DOI: 10.1093/med/9780198870197.003.0091
M. Whyte
{"title":"Rickets and Osteomalacia (Acquired and Heritable Forms)","authors":"M. Whyte","doi":"10.1093/med/9780198870197.003.0091","DOIUrl":"https://doi.org/10.1093/med/9780198870197.003.0091","url":null,"abstract":"Rickets and osteomalacia refer to the consequences of generalized impairment of skeletal mineralization during growth and adult life, respectively. Among the complications can be deformity, fracture, weakness, and pain. The many acquired or heritable causes typically involve low circulating levels of inorganic phosphate (Pi), often with hypocalcaemia and secondary hyperparathyroidism. Commonly, the pathogenesis features deficiency of vitamin D leading to malabsorption of dietary calcium (Ca). Especially rare forms involve aberrant bioactivation or action of vitamin D, elevated circulating levels of a phosphatonin (typically fibroblast growth factor 23) that cause renal Pi wasting and hypophosphatemia, or alkaline phosphatase deficiency. All types have some medical treatment, but success depends on correcting the aetiology or effectively addressing the pathogenesis, often requiring supplementation with vitamin D or an analogue together with Ca or Pi. Although general guidelines for therapy may be available, skilled personalized treatment and follow-up are key to safe and successful outcomes.","PeriodicalId":130301,"journal":{"name":"Oxford Textbook of Endocrinology and Diabetes 3e","volume":"7 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":"133544125","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: 1
Vasointestinal Polypeptide Secreting Tumours 血管肠多肽分泌肿瘤
Oxford Textbook of Endocrinology and Diabetes 3e Pub Date : 2021-07-01 DOI: 10.1093/med/9780198870197.003.0114
A. Munir
{"title":"Vasointestinal Polypeptide Secreting Tumours","authors":"A. Munir","doi":"10.1093/med/9780198870197.003.0114","DOIUrl":"https://doi.org/10.1093/med/9780198870197.003.0114","url":null,"abstract":"Vasointestinal polypeptide (VIP) secreting tumours (VIPomas) are rare functioning neuroendocrine tumours (NET) The majority arise from the tail of pancreas. Frequently they have metastasized at presentation and may prove challenging to diagnose and manage. The VIP causes a syndrome of profound and chronic, watery diarrhoea which persists despite fasting. Characteristic electrolyte abnormalities occur including: dehydration, hypokalaemia, achlorhydria, acidosis with hypercalcaemia, and hyperglycaemia. These may be life-threatening. Patients may also present with lethargy, weakness, nausea, abdominal pain, and weight loss. Diagnosis requires the clinical picture, fasting VIP level, multimodal imaging including CT, somatostatin receptor scintigraphy, and MRI. Treatment goals are to initially correct dehydration and electrolyte abnormalities. Control of diarrhoea may be achieved using octreotide. Surgical resection with curative intent should be offered where able. For metastatic disease options should be discussed in a NET specific multidisciplinary team meeting (MDT) and include targeted, loco-regional, and peptide receptor radionuclide therapies.","PeriodicalId":130301,"journal":{"name":"Oxford Textbook of Endocrinology and Diabetes 3e","volume":"71 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":"133712196","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
Myxoedema Coma Myxoedema Coma
Oxford Textbook of Endocrinology and Diabetes 3e Pub Date : 2021-07-01 DOI: 10.1093/med/9780198870197.003.0069
L. Wartofsky, D. Ylli, J. Klubo-Gwiezdzinska
{"title":"Myxoedema Coma","authors":"L. Wartofsky, D. Ylli, J. Klubo-Gwiezdzinska","doi":"10.1093/med/9780198870197.003.0069","DOIUrl":"https://doi.org/10.1093/med/9780198870197.003.0069","url":null,"abstract":"Myxoedema coma is a rare but life-threatening condition resulting from severe thyroid hormone deficiency. Despite having a low incidence, the mortality rate may be as high as 30–60%. The prompt recognition of clinical presentation and precipitating events allows earlier diagnosis and treatment reducing the probability of an adverse outcome. The risk of myxoedema coma is greatest in hypothyroid older patients exposed to a precipitating event such as infection or a systemic superimposed illness. The effect of thyroid hormone deficiency on multiple systems (cardiovascular, respiratory, gastrointestinal, renal, neuropsychiatric, haematologic and thermoregulatory) often blurs the diagnosis resulting in treatment delay. Proper treatment includes thyroid hormone administration and a multifaceted approach to the multiple metabolic derangements in order to optimize survival.","PeriodicalId":130301,"journal":{"name":"Oxford Textbook of Endocrinology and Diabetes 3e","volume":"163 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":"132433968","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
Overview and Pathophysiology of Neuroendocrine Neoplasms 神经内分泌肿瘤的概述和病理生理学
Oxford Textbook of Endocrinology and Diabetes 3e Pub Date : 2021-07-01 DOI: 10.1093/med/9780198870197.003.0106
R. Srirajaskanthan, G. Rindi
{"title":"Overview and Pathophysiology of Neuroendocrine Neoplasms","authors":"R. Srirajaskanthan, G. Rindi","doi":"10.1093/med/9780198870197.003.0106","DOIUrl":"https://doi.org/10.1093/med/9780198870197.003.0106","url":null,"abstract":"Neuroendocrine neoplasms are increasing in incidence and prevalence. Recent epidemiological data suggests an overall incidence of 7 per 100 000 population in USA. Symptoms can be diverse with a number of tumours causing distinct clinical syndromes, most commonly carcinoid syndrome. Investigations to aid diagnosis include biochemical, cross-sectional, and functional imaging. Histology remains the gold standard for diagnosis. Treatment options are dependent in part of the site of the primary tumour. Surgery remains the only chance of cure and should be offered to all patients when appropriate. There are a number of systemic palliative treatment therapies and a number of local regional therapies that can be employed for liver metastases. For patients with carcinoid syndrome or functional tumours somatostatin analogues can be very effective a reducing hormone secretion. Median overall survival has been improving over the last 30 years to 9.3 years.","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":"127785109","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
Molecular and Clinical Characteristics of the McCune–Albright Syndrome McCune-Albright综合征的分子和临床特征
Oxford Textbook of Endocrinology and Diabetes 3e Pub Date : 2021-07-01 DOI: 10.1093/med/9780198870197.003.0121
M. Levine, S. Lietman
{"title":"Molecular and Clinical Characteristics of the McCune–Albright Syndrome","authors":"M. Levine, S. Lietman","doi":"10.1093/med/9780198870197.003.0121","DOIUrl":"https://doi.org/10.1093/med/9780198870197.003.0121","url":null,"abstract":"The McCune–Albright syndrome (MAS) is characterized by the clinical triad of polyostotic fibrous dysplasia, café-au-lait pigmented skin lesions, and endocrinopathy. MAS is due to postzygotic mutation of the GNAS gene that leads to activation of Gα‎s, the alpha chain of the heterotrimeric G protein, Gs. Cells that carry the activating GNAS mutation, termed gsp, are distributed in a mosaic pattern, and the extent of the distribution of mutation-bearing cells is based on the timing of the mutational event. Thus, gsp mutations that occur late in development can cause mono-ostotic fibrous dysplasia or an isolated endocrine lesion, whereas earlier mutational events lead to widespread distribution of lesional cells and MAS. Molecular studies now enable the detection of somatic GNAS mutations in circulating cells from most patients with MAS as well as many patients who have only one affected tissue, and therefore diagnosis of MAS continues to rely upon clinical assessment.","PeriodicalId":130301,"journal":{"name":"Oxford Textbook of Endocrinology and Diabetes 3e","volume":"19 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":"115678949","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
Radiation-Induced Thyroid Disease 辐射引起的甲状腺疾病
Oxford Textbook of Endocrinology and Diabetes 3e Pub Date : 2021-07-01 DOI: 10.1093/med/9780198870197.003.0050
S. Yamashita, F. Pacini, R. Elisei
{"title":"Radiation-Induced Thyroid Disease","authors":"S. Yamashita, F. Pacini, R. Elisei","doi":"10.1093/med/9780198870197.003.0050","DOIUrl":"https://doi.org/10.1093/med/9780198870197.003.0050","url":null,"abstract":"Radiation is a mitogen which may cause damage to the cell DNA. When sufficiently severe, the damage may result in cell death. When the damage is less severe, the consequences to the cell depend upon the gene and cell system that are affected. The thyroid gland is particularly sensitive to the effects of radiation and the evidence that radiation may damage the thyroid gland is overwhelming. Both external and internal radiation have been associated with thyroid diseases (cancer and hypothyroidism, with or without thyroid autoimmunity) both in vitro and in vivo. External radiation to the thyroid was first recognized as a cause of thyroid carcinoma in the 1950s, when incidences were found in individuals who had been given radiotherapy during childhood for an enlarged thymus. This chapter takes a look at the numerous studies which have confirmed and extended these initial observations.","PeriodicalId":130301,"journal":{"name":"Oxford Textbook of Endocrinology and Diabetes 3e","volume":"84 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":"124161558","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
Recognizing Normal and Disordered Pubertal Development 辨别正常和紊乱的青春期发育
Oxford Textbook of Endocrinology and Diabetes 3e Pub Date : 2021-07-01 DOI: 10.1093/med/9780198870197.003.0187
A. Rogol, J. Fuqua
{"title":"Recognizing Normal and Disordered Pubertal Development","authors":"A. Rogol, J. Fuqua","doi":"10.1093/med/9780198870197.003.0187","DOIUrl":"https://doi.org/10.1093/med/9780198870197.003.0187","url":null,"abstract":"Pubertal maturation is a time of dramatic physical, reproductive, and psychological changes, including the development of secondary sex characteristics and changes in body composition. It requires a complex series of hormonal changes initiated by alterations in hypothalamic regulatory mechanisms that are incompletely understood, culminating in gonadal sex steroid secretion and associated maturation. While genetics play a major role in the timing and progression of pubertal maturation, other inputs such as nutrition, environmental factors, and social milieu yield individualized variations in the maturational pattern. It is likely that these factors are in part responsible for changes in timing and tempo of pubertal maturation noted over the last few decades. When a child begins to mature at the earliest or latest extremes of the normal ranges, the clinician must determine if the child is undergoing normal puberty, a non-pathologic variation, or a medically concerning condition that requires further investigation or treatment.","PeriodicalId":130301,"journal":{"name":"Oxford Textbook of Endocrinology and Diabetes 3e","volume":"41 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":"114553369","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
Clinical Evaluation 临床评价
Oxford Textbook of Endocrinology and Diabetes 3e Pub Date : 2021-07-01 DOI: 10.1093/med/9780198870197.003.0482
B. Anawalt
{"title":"Clinical Evaluation","authors":"B. Anawalt","doi":"10.1093/med/9780198870197.003.0482","DOIUrl":"https://doi.org/10.1093/med/9780198870197.003.0482","url":null,"abstract":"The evaluation of the man with suspected hypogonadism and/or infertility begins with a directed history and physical examination on specific elements that help to determine the likely onset and possible causes of the androgen deficiency or infertility. Determination of the onset and possible causes of androgen deficiency or infertility is essential for determination of a rational diagnostic evaluation. For example, in the adult man who has testes are very small (≤6 cc each) has prepubertal onset of male hypogonadism. Congenital causes of hypogonadism such as Klinefelter syndrome and Kallmann syndrome become much more likely as aetiologies whereas acquired causes such as sellar masses and metabolic disorders such as hemochromatosis more commonly present postpubertally (because they take time to progress to hypogonadism) or there are clues to the acquired causes such as major testicular or hypothalamic disease or surgery when they occur pre- or peripubertally. Finally, the history and physical examination is indispensable in determining the potential benefits and risks of therapy for man with suspected androgen deficiency or infertility. This chapter introduces the reader into the rationale approach history taking and the physical examination of the man with possible hypogonadism.","PeriodicalId":130301,"journal":{"name":"Oxford Textbook of Endocrinology and Diabetes 3e","volume":"8 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":"114977688","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
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