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Management of Thyroid Disorders Before Assisted and Spontaneous Pregnancies 辅助妊娠和自然妊娠前甲状腺疾病的管理
Pub Date : 2021-07-01 DOI: 10.1093/med/9780198870197.003.0171
K. Poppe, F. Veltri, D. Unuane
Severe thyroid dysfunction may lead to menstrual disorders and infertility. Fertility problems may persist even after restoring normal thyroid function, and then an assisted reproductive technology (ART) may be considered as a therapeutic option. Prior to an ART treatment, an ovarian hyperstimulation is performed, leading to high oestradiol levels, which may lead to hypothyroidism in women with thyroid autoimmunity (TAI), necessitating thyroid hormone supplements (LT4) before pregnancy. Moreover, women with the polycystic ovarian syndrome and idiopathic infertility have a higher prevalence of TAI. Women with a known hypothyroidism before pregnancy and treated with LT4 should have a serum TSH <2.5 mIU/L, both in case of assisted and spontaneous pregnancies. Women with Graves’ disease desiring pregnancy should be advised of the increased risk of maternal and fetal complications and about the possible side effects of antithyroid drugs. If necessary, pregnancy must be postponed until euthyroidism is reached and confirmed. With the exception of women planning ART or those known to have TAI, at present there are no recommendations regarding universal screening for thyroid function in the preconception phase.
严重的甲状腺功能障碍可能导致月经紊乱和不孕。即使在恢复正常甲状腺功能后,生育问题可能仍然存在,这时辅助生殖技术(ART)可能被视为一种治疗选择。在抗逆转录病毒治疗之前,进行卵巢过度刺激,导致高雌二醇水平,这可能导致甲状腺自身免疫(TAI)妇女甲状腺功能减退,需要在怀孕前补充甲状腺激素(LT4)。此外,患有多囊卵巢综合征和特发性不孕症的妇女有较高的TAI患病率。妊娠前已知甲状腺功能减退并接受LT4治疗的妇女,无论是辅助妊娠还是自然妊娠,血清TSH均应<2.5 mIU/L。希望怀孕的格雷夫斯病妇女应被告知母体和胎儿并发症的风险增加以及抗甲状腺药物可能产生的副作用。如有必要,必须推迟怀孕,直到达到甲状腺功能亢进并得到确认。除了计划抗逆转录病毒治疗的妇女或已知患有TAI的妇女外,目前没有关于在孕前阶段普遍筛查甲状腺功能的建议。
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引用次数: 0
Familial Syndromes and Genetic Causes of Paraganglioma and Phaeochromocytoma 副神经节瘤和嗜铬细胞瘤的家族综合征和遗传原因
Pub Date : 2021-07-01 DOI: 10.1093/med/9780198870197.003.0119
E. Maher, R. Casey
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.
嗜铬细胞瘤是一种起源于肾上腺髓质的肿瘤,副神经节瘤指的是肾上腺外的肿瘤,它可以从颅底到骨盆的任何地方的交感或副交感组织发展而来。嗜铬细胞瘤和副神经节瘤(PPGL)被认为是最具遗传性的肿瘤,因为高达40%的患这些肿瘤的患者具有遗传易感性。本章提供了PPGL和相关综合征的临床和分子遗传学的最新进展,并为已知PPGL易感基因携带者的基因检测和监测提供了指导。
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引用次数: 0
Endocrinology, Sleep, and Circadian Rhythms 内分泌学,睡眠和昼夜节律
Pub Date : 2021-07-01 DOI: 10.1093/med/9780198870197.003.0011
G. Brabant, H. Oster
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.
激素信号是调节睡眠、行为和其他多种生理过程的核心组成部分,这些生理过程通过内源性生物钟与外部时间线索保持一致。对生物钟的内分泌反馈通过关键系统发挥作用,支持内源性节律的稳健性。它受到多种现代生活方式因素的挑战,如轮班工作、光污染或高热量饮食,这些因素可能会改变这种微妙的平衡,改变生理设定值。下一章总结了目前关于控制昼夜节律、睡眠和内分泌系统相互调节的潜在机制的知识,以及它的不平衡可能导致的疾病。
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引用次数: 0
Adrenal Disease in Pregnancy 妊娠期肾上腺疾病
Pub Date : 2021-07-01 DOI: 10.1093/med/9780198870197.003.0177
D. Torpy, M. O’Reilly, S. M. D. De Sousa
Diagnosis of adrenal gland dysfunction in pregnancy is complex, and confounded by physiological gestational changes in maternal adrenal hormone metabolism. Management of newly diagnosed or pre-existing adrenal disease in pregnant women requires intensive input from the endocrinologist, and close collaboration with the obstetrician or fetal medicine specialist. Maternal adrenal gland dysfunction during pregnancy encompasses adrenocortical disorders resulting in glucocorticoid and mineralocorticoid deficiency or excess, and medullary disease resulting in catecholamine excess. The aim of this chapter is to review clinical aspects of the most common adrenal disorders in pregnancy, and to discuss approaches to diagnosis and management. Both benign and malignant diseases of the adrenal cortex and medulla will also be discussed.
妊娠期肾上腺功能障碍的诊断是复杂的,并且与母体肾上腺激素代谢的生理变化相混淆。对孕妇新诊断或已存在的肾上腺疾病的管理需要内分泌学家的大量投入,并与产科医生或胎儿医学专家密切合作。孕妇肾上腺功能障碍包括肾上腺皮质紊乱,导致糖皮质激素和矿皮质激素缺乏或过量,以及髓质疾病,导致儿茶酚胺过量。本章的目的是回顾临床方面最常见的肾上腺疾病在妊娠,并讨论方法的诊断和管理。良性和恶性疾病的肾上腺皮质和髓质也将讨论。
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引用次数: 0
Exogenous Factors and Female Reproductive Health 外生因素与女性生殖健康
Pub Date : 2021-07-01 DOI: 10.1093/med/9780198870197.003.0168
Siew S. Lim, A. Mousa, S. Shorakae, L. Moran
Undernutrition adversely affects fertility. A low body weight is associated with delayed conception. When conception does occur, undernutrition could also adversely affect pregnancy outcomes. Low prepregnancy BMI (<18.5 kg/m2) is associated with increased risk of early miscarriage, preterm labour, anaemia, insufficient weight gain, and impaired intrauterine fetal growth. On the other hand, overweight and obesity are associated with increased risk of gestational diabetes, pre-eclampsia, and other complications during pregnancy and delivery. Weight loss through energy restriction, with or without exercise, improves reproductive function in overweight or obese women. Aside from body weight and energy status, maternal macronutrient, and micronutrient intakes before and during pregnancy would also influence pregnancy outcomes. Studies in mostly nutritionally at-risk women reported that balanced energy/protein supplementation (<25% energy from protein) is associated with higher birth weights but high protein supplementation (> 25% energy from protein) may increase the risk of small-for-gestational-age (SGA) infants. Reducing glycaemic index or glycaemic load of maternal diet may reduce the risk of large-for-gestational-age (LGA) births or gestational diabetes. In terms of micronutrients, current evidence supports folic acid supplementation (at least 400 µg/day) to reduce the risk of fetal abnormalities, iodine supplementation for women at risk of iodine deficiency to prevent complications in fetal physical and mental development, and iron supplementation to reduce the risk of maternal anaemia where required.
营养不良对生育能力有不利影响。低体重与延迟受孕有关。当怀孕发生时,营养不良也会对怀孕结果产生不利影响。低孕前BMI(25%来自蛋白质的能量)可能会增加小胎龄儿(SGA)的风险。降低产妇饮食中的血糖指数或血糖负荷可降低大胎龄(LGA)分娩或妊娠期糖尿病的风险。在微量营养素方面,目前的证据支持补充叶酸(至少400微克/天)以减少胎儿异常的风险,补充碘的妇女有缺碘的风险,以防止胎儿的身体和智力发育并发症,并补充铁,以减少产妇贫血的风险,如需要。
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引用次数: 0
Prevention in Endocrinology 内分泌学预防
Pub Date : 2021-07-01 DOI: 10.1093/med/9780198870197.003.0013
J. Valabhji, R. Agha-Jaffar
Changing epidemiology has led to a clear shift in focus in endocrinology disease prevention. Iodine deficiency disorders and congenital hypothyroidism were examples of conditions, which when left untreated had severe consequences including impaired neurological development. However, introduction of appropriate health policies has successfully increased early recognition and treatment, thereby reducing the associated health burden. The epidemic of type 2 diabetes has now superseded these and presents one of the greatest public health challenges. In some countries, national policies are being implemented to tackle the increasing prevalence with strategies focusing on improving the obesogenic environment, a significant modifiable contributor to type 2 diabetes, as well as strategies that aim to prevent high-risk individuals progressing through to type 2 diabetes, such as the National type 2 diabetes Prevention Programme in England. The potential for prevention in other areas including gestational diabetes, type 1 diabetes, and osteoporosis will also be explored in this chapter.
不断变化的流行病学导致了内分泌疾病预防重点的明显转变。缺碘症和先天性甲状腺功能减退就是这些疾病的例子,如果不加以治疗,会造成严重后果,包括神经发育受损。然而,采取适当的卫生政策成功地增加了早期识别和治疗,从而减少了相关的卫生负担。2型糖尿病的流行现在已经取代了这些,并提出了最大的公共卫生挑战之一。在一些国家,正在实施国家政策,以解决日益增加的患病率,其战略重点是改善致肥环境,这是2型糖尿病的一个重要的可改变因素,以及旨在防止高危人群发展为2型糖尿病的战略,如英国的国家2型糖尿病预防计划。潜在的预防在其他领域,包括妊娠糖尿病,1型糖尿病,骨质疏松症也将探讨在本章。
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引用次数: 0
Endocrine Abnormalities in HIV Infection HIV感染中的内分泌异常
Pub Date : 2021-07-01 DOI: 10.1093/med/9780198870197.003.0207
S. Grinspoon, T. Stanley
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.
治疗和未经治疗的人类免疫缺陷病毒(HIV)感染与身体成分和内分泌轴功能的扰动有关。在疾病晚期,未经治疗的HIV患者可能出现消瘦、瘦质量下降和多种内分泌轴异常,包括生长激素(GH)抵抗、雄激素缺乏、女性少经或闭经以及肾上腺功能受损。相比之下,得到良好治疗的HIV患者通常会出现体重增加和异位脂肪堆积的情况。虽然直率的内分泌异常在治疗良好的HIV患者中不太常见,但心脏代谢异常,如胰岛素抵抗、血脂异常和非酒精性脂肪性肝病相对常见。最后,在艾滋病毒感染者中,骨密度可能降低,心血管风险增加,这在很大程度上是由于免疫失调和持续的炎症,即使治疗了艾滋病毒。对艾滋病毒感染者的适当护理包括评估内分泌失调的任何潜在体征或症状,以及评估和管理心血管危险因素。
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引用次数: 0
Management of Idiopathic Male Infertility 特发性男性不育症的治疗
Pub Date : 2021-07-01 DOI: 10.1093/med/9780198870197.003.0491
H. Tournaye, B. Popovic-Todorovic
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.
男性生殖缺陷可能是由于影响精子产生、精子质量和功能或精子运输的因素造成的。然而,在大约30-40%的男性中,这些损伤的原因仍然无法解释,但越来越多的遗传原因正在被发现。总的来说,尽管在很大程度上尚未得到证实,但健康的生活方式可以提高精子质量。目前,没有证据表明食品补充剂和口服抗氧化剂制剂在治疗特发性男性不育症中的有益作用。经验性激素治疗在不明原因的男性不育症中没有作用。辅助生殖技术(ART)相对成功,越来越多地用作特发性男性不育症的管理选择。
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引用次数: 0
Hormonal Contraception 激素避孕
Pub Date : 2021-07-01 DOI: 10.1093/med/9780198870197.003.0166
Jennifer Chin, B. Kaneshiro
The birth control pill, the first hormonal contraceptive method widely available to the public, transformed the way society viewed childbearing and sexuality. Since the 1960s, many different types of hormonal contraceptives have been developed and are now available to women. There are two main categories of hormonal contraceptives, combined hormonal contraceptives, which consist of oestrogen and progestin, and progestin-only contraceptives. Within each category, various methods and formulations exist, each with a different mechanism of action, efficacy, and side effect profile. Emergency contraception offers a post-coital method that can be used in cases where women did not use contraception at the time of intercourse or had a method failure (i.e. condom breakage). Several contraceptive methods have non-contraceptive benefits. Most methods decrease the risk of endometrial cancer and combined hormonal contraceptives decrease the risk of ovarian cancer. Many methods have been used in the treatment of abnormal uterine bleeding, dysmenorrhoea, premenstrual syndrome, and acne.
避孕药是第一种向公众广泛提供的激素避孕方法,它改变了社会对生育和性行为的看法。自20世纪60年代以来,已经开发了许多不同类型的激素避孕药,现在可供妇女使用。激素避孕药主要有两类,一种是由雌激素和黄体酮组成的联合激素避孕药,另一种是仅含黄体酮的避孕药。在每个类别中,存在各种方法和配方,每种方法和配方都有不同的作用机制、功效和副作用。紧急避孕提供了一种性交后的方法,可用于妇女在性交时未使用避孕措施或方法失效(即避孕套破裂)的情况。一些避孕方法有非避孕的好处。大多数方法可以降低患子宫内膜癌的风险,联合激素避孕药可以降低患卵巢癌的风险。治疗子宫异常出血、痛经、经前综合症和痤疮的方法很多。
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引用次数: 0
Molecular Aspects of Hormone Regulation 激素调控的分子方面
Pub Date : 2021-07-01 DOI: 10.1093/med/9780198870197.003.0003
K. Siddle, G. Brierley
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.
激素在血液中流动,对目标组织产生影响,这些组织在解剖学上往往远离激素分泌的部位。它们通过结合和激活通常具有高度选择性或特异性的受体来实现这一目标。受体根据其分子结构和作用机制可分为几个科。在内分泌学中重要的常见受体包括细胞表面g蛋白偶联受体、酪氨酸激酶受体、细胞因子样受体和细胞核内激素受体。在这一章中,描述了这些受体发出的信号通路的基本解剖结构,并讨论了信息编码和传递的原理和机制,以及这些在内分泌疾病中是如何出错的。
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引用次数: 0
期刊
Oxford Textbook of Endocrinology and Diabetes 3e
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