Pub Date : 2021-07-01DOI: 10.1093/med/9780198870197.003.0235
Y. Deugnier, E. Bardou-Jacquet
Haemochromatosis was described centuries ago, yet the biological mechanisms involved were delineated only recently. Mutation in genes involved in iron metabolism (HFE in the most frequent form) leads to systemic iron overload which particularly affect the liver, pancreas, heart, joints, and pituitary. This can lead to cirrhosis, hepatocellular carcinoma, diabetes, heart failure, hypogonadism, and arthropathy. The diagnosis now relies on definite genetic testing, allowing earlier diagnosis and family screening. This chapter looks at how this lifelong treatment is based on bloodletting to normalize body iron stores and, provided it is initiated before the onset of massive iron overload, allows a normal life expectancy.
{"title":"Haemochromatosis and Other Inherited Diseases of Iron Metabolism","authors":"Y. Deugnier, E. Bardou-Jacquet","doi":"10.1093/med/9780198870197.003.0235","DOIUrl":"https://doi.org/10.1093/med/9780198870197.003.0235","url":null,"abstract":"Haemochromatosis was described centuries ago, yet the biological mechanisms involved were delineated only recently. Mutation in genes involved in iron metabolism (HFE in the most frequent form) leads to systemic iron overload which particularly affect the liver, pancreas, heart, joints, and pituitary. This can lead to cirrhosis, hepatocellular carcinoma, diabetes, heart failure, hypogonadism, and arthropathy. The diagnosis now relies on definite genetic testing, allowing earlier diagnosis and family screening. This chapter looks at how this lifelong treatment is based on bloodletting to normalize body iron stores and, provided it is initiated before the onset of massive iron overload, allows a normal life expectancy.","PeriodicalId":130301,"journal":{"name":"Oxford Textbook of Endocrinology and Diabetes 3e","volume":"39 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":"123493412","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}
Pub Date : 2021-07-01DOI: 10.1093/med/9780198870197.003.0034
J. Honegger, U. Ernemann, R. Beschorner
Pituitary adenomas are prevailing among perisellar tumours. That is why other perisellar tumours are often misinterpreted as pituitary adenomas. Careful consideration of the characteristic endocrinological and magnetic resonance imaging (MRI) findings are of paramount importance to differentiate between various tumours encountered in the perisellar region. With knowledge of the typical and occasionally pathognomonic signs of the different perisellar tumour entities, the correct diagnosis can often be made with a high degree of certainty even before histological confirmation of diagnosis. Diagnostic accuracy is decisive for purposeful clinical decision-making. In parallel, histopathological classification in surgical cases has further developed and molecular markers have been implemented allowing a more precise distinction and definition of tumour entities. Extended transsphenoidal skull base approaches have expanded the surgical options in the treatment of perisellar tumours. Radiotherapeutic modalities have been refined and the experience with radiosurgery or fractionated radiotherapy for perisellar tumours has significantly increased over the past 10 years. Novel targeted therapies are emerging as additional therapeutic options for solid tumours. The endovascular techniques for treatment of aneurysms including stent-assisted coiling and flow diversion have rapidly advanced. The characteristic clinical findings, the current diagnostic and therapeutic strategies, and the outcome with the advanced treatment options in non-adenomatous perisellar tumours are presented in this chapter.
{"title":"Perisellar Tumours Including Cysts, Hamartomas, and Vascular Tumours","authors":"J. Honegger, U. Ernemann, R. Beschorner","doi":"10.1093/med/9780198870197.003.0034","DOIUrl":"https://doi.org/10.1093/med/9780198870197.003.0034","url":null,"abstract":"Pituitary adenomas are prevailing among perisellar tumours. That is why other perisellar tumours are often misinterpreted as pituitary adenomas. Careful consideration of the characteristic endocrinological and magnetic resonance imaging (MRI) findings are of paramount importance to differentiate between various tumours encountered in the perisellar region. With knowledge of the typical and occasionally pathognomonic signs of the different perisellar tumour entities, the correct diagnosis can often be made with a high degree of certainty even before histological confirmation of diagnosis. Diagnostic accuracy is decisive for purposeful clinical decision-making. In parallel, histopathological classification in surgical cases has further developed and molecular markers have been implemented allowing a more precise distinction and definition of tumour entities. Extended transsphenoidal skull base approaches have expanded the surgical options in the treatment of perisellar tumours. Radiotherapeutic modalities have been refined and the experience with radiosurgery or fractionated radiotherapy for perisellar tumours has significantly increased over the past 10 years. Novel targeted therapies are emerging as additional therapeutic options for solid tumours. The endovascular techniques for treatment of aneurysms including stent-assisted coiling and flow diversion have rapidly advanced. The characteristic clinical findings, the current diagnostic and therapeutic strategies, and the outcome with the advanced treatment options in non-adenomatous perisellar tumours are presented in this chapter.","PeriodicalId":130301,"journal":{"name":"Oxford Textbook of Endocrinology and Diabetes 3e","volume":"22 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":"121644367","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}
Pub Date : 2021-07-01DOI: 10.1093/med/9780198870197.003.0086
P. Miller, M. Pazianas
Management of osteoporosis in patients with chronic kidney disease (CKD) is often very challenging and it should consider the pathophysiology of both disorders. Patients with stage 4–5 CKD are especially at very high risk for fragility fractures and secondary increase in mortality. Discriminating between osteoporosis and CKD-MBD is best accomplished with quantitative bone histomorphometry but biochemical markers of bone turnover, especially intact parathyroid hormone (PTH) and bone-specific alkaline phosphatase, also may be helpful. The one renal bone disease where antiresorptive osteoporosis therapies would be potentially unsafe is idiopathic renal adynamic bone disease. The two renal bone diseases where an osteoporosis pharmacological agent would not be advised are osteomalacia and primary hyperparathyroid bone disease which can be excluded by defining the underlying cause of a high bone-specific alkaline phosphatase or defining the cause of a very high intact PTH. If a stage 4–5 CKD patient with fragility fractures is felt to have osteoporosis as the major underlying metabolic bone disease causing fractures, FDA approved pharmacological agents for the treatment of osteoporosis can be beneficial on or off label.
{"title":"Bones and the Kidney","authors":"P. Miller, M. Pazianas","doi":"10.1093/med/9780198870197.003.0086","DOIUrl":"https://doi.org/10.1093/med/9780198870197.003.0086","url":null,"abstract":"Management of osteoporosis in patients with chronic kidney disease (CKD) is often very challenging and it should consider the pathophysiology of both disorders. Patients with stage 4–5 CKD are especially at very high risk for fragility fractures and secondary increase in mortality. Discriminating between osteoporosis and CKD-MBD is best accomplished with quantitative bone histomorphometry but biochemical markers of bone turnover, especially intact parathyroid hormone (PTH) and bone-specific alkaline phosphatase, also may be helpful. The one renal bone disease where antiresorptive osteoporosis therapies would be potentially unsafe is idiopathic renal adynamic bone disease. The two renal bone diseases where an osteoporosis pharmacological agent would not be advised are osteomalacia and primary hyperparathyroid bone disease which can be excluded by defining the underlying cause of a high bone-specific alkaline phosphatase or defining the cause of a very high intact PTH. If a stage 4–5 CKD patient with fragility fractures is felt to have osteoporosis as the major underlying metabolic bone disease causing fractures, FDA approved pharmacological agents for the treatment of osteoporosis can be beneficial on or off label.","PeriodicalId":130301,"journal":{"name":"Oxford Textbook of Endocrinology and Diabetes 3e","volume":"44 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":"124041890","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}
Pub Date : 2021-07-01DOI: 10.1093/med/9780198870197.003.0079
R. Dobrescu, C. Badiu
Thyroid cancer is the most common endocrine malignancy. Differentiated thyroid carcinoma (DTC) is the most frequent type of thyroid cancer and generally has a good prognosis. Diagnosis is based on neck ultrasound and fine needle aspiration biopsy (FNAB) which selects patients for thyroid surgery. Total thyroidectomy is required for large, invasive tumours with lymph node invasion; lobectomy is sufficient for small nodules without any suspicious features. Clinical and pathology data are used to stratify patients according to their risk of mortality and disease recurrence. Adjuvant therapy with radioiodine is indicated in high-risk groups. Follow-up is based on serial thyroglobulin measurements and ultrasound in a dynamic risk evaluation system. In case of disease persistence or recurrence radioiodine scans, high resolution cross-sectional imaging studies with computed tomography (CT) or MRI and 18FDG-PET are performed. Particular management is required for children and during pregnancy. Anaplastic thyroid carcinoma is a rare, aggressive malignancy, affecting older patients, rapidly evolving, and almost uniformly fatal. Prompt management is essential, involving early surgery followed by external radiotherapy, chemotherapy, and palliative care when needed. Thyroid lymphoma is a rare thyroid cancer that frequently occurs on the background of autoimmune thyroiditis. Management depends on histological subtype and stage. In localized forms radiotherapy alone may be sufficient; diffuse forms require a combination of radiotherapy and chemotherapy to improve survival and decrease the risk of recurrences.
{"title":"Papillary, Follicular, and Anaplastic Thyroid Carcinoma and Thyroid Lymphoma","authors":"R. Dobrescu, C. Badiu","doi":"10.1093/med/9780198870197.003.0079","DOIUrl":"https://doi.org/10.1093/med/9780198870197.003.0079","url":null,"abstract":"Thyroid cancer is the most common endocrine malignancy. Differentiated thyroid carcinoma (DTC) is the most frequent type of thyroid cancer and generally has a good prognosis. Diagnosis is based on neck ultrasound and fine needle aspiration biopsy (FNAB) which selects patients for thyroid surgery. Total thyroidectomy is required for large, invasive tumours with lymph node invasion; lobectomy is sufficient for small nodules without any suspicious features. Clinical and pathology data are used to stratify patients according to their risk of mortality and disease recurrence. Adjuvant therapy with radioiodine is indicated in high-risk groups. Follow-up is based on serial thyroglobulin measurements and ultrasound in a dynamic risk evaluation system. In case of disease persistence or recurrence radioiodine scans, high resolution cross-sectional imaging studies with computed tomography (CT) or MRI and 18FDG-PET are performed. Particular management is required for children and during pregnancy. Anaplastic thyroid carcinoma is a rare, aggressive malignancy, affecting older patients, rapidly evolving, and almost uniformly fatal. Prompt management is essential, involving early surgery followed by external radiotherapy, chemotherapy, and palliative care when needed. Thyroid lymphoma is a rare thyroid cancer that frequently occurs on the background of autoimmune thyroiditis. Management depends on histological subtype and stage. In localized forms radiotherapy alone may be sufficient; diffuse forms require a combination of radiotherapy and chemotherapy to improve survival and decrease the risk of recurrences.","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":"125487426","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}
Pub Date : 2021-07-01DOI: 10.1093/med/9780198870197.003.0096
A. Jouinot, R. Libé, J. Bertherat
Adrenocortical cancer (ACC) is among the most aggressive endocrine tumours with an overall poor prognosis. Morbidity and mortality can be secondary to tumour-related steroid hormone excess and/or tumour growth and metastases. This potentially poor outcome explains why the early detection of adrenocortical malignancy is paramount for the investigation of adrenal masses, alongside exclusion of hormone excess. The diagnosis of adrenocortical carcinoma relies on careful investigations of clinical, endocrine, and imaging features before surgery, and histopathological examination after tumour removal. Appropriate management and follow-up by an expert multidisciplinary team is critical to improve prognosis and drive progress for this rare cancer.
{"title":"Adrenocortical Cancer","authors":"A. Jouinot, R. Libé, J. Bertherat","doi":"10.1093/med/9780198870197.003.0096","DOIUrl":"https://doi.org/10.1093/med/9780198870197.003.0096","url":null,"abstract":"Adrenocortical cancer (ACC) is among the most aggressive endocrine tumours with an overall poor prognosis. Morbidity and mortality can be secondary to tumour-related steroid hormone excess and/or tumour growth and metastases. This potentially poor outcome explains why the early detection of adrenocortical malignancy is paramount for the investigation of adrenal masses, alongside exclusion of hormone excess. The diagnosis of adrenocortical carcinoma relies on careful investigations of clinical, endocrine, and imaging features before surgery, and histopathological examination after tumour removal. Appropriate management and follow-up by an expert multidisciplinary team is critical to improve prognosis and drive progress for this rare cancer.","PeriodicalId":130301,"journal":{"name":"Oxford Textbook of Endocrinology and Diabetes 3e","volume":"30 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":"115790662","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}
Pub Date : 2021-07-01DOI: 10.1093/med/9780198870197.003.0272
H. Murphy, J. Yamamoto
Although there have been many advances in the treatment of diabetes, the goal of the St. Vincent Declaration (1989) that the outcome of diabetic pregnancy approximates that of non-diabetic pregnancy has still not been realized. Women with diabetes still have an increased risk of pregnancy-related complications including preterm delivery, large-for-gestational-age, neonatal hypoglycaemia, congenital anomaly, stillbirth, and neonatal death. The landscape of diabetes in pregnancy has changed dramatically with one in six pregnancies affected by maternal hyperglycaemia. Approximately half of all women with pre-gestational diabetes in pregnancy now have pre-gestational type 2 diabetes (T2D). This represents a 90% increase in the proportion of pregnancies complicated by T2D over 15 years. Likewise, recent data suggest a 44% increase in the number of pregnancies complicated by type 1 diabetes (T1D). While there remains much room for improvement, pregnancy outcomes for most women with diabetes are good. This likely reflects improvements such as obstetric surveillance, tighter glycaemic targets, improved diabetes technologies, and specialized interdisciplinary teams. There is also evidence of recent improvements, with a 2.5-fold reduction in stillbirths in a large contemporary UK cohort of women with pre-gestational diabetes in pregnancy compared to 15 years earlier. The goal now is to further improve pregnancy outcomes in women with diabetes by optimizing pre-pregnancy care, glycaemic control, and obstetric and diabetes-related surveillance using targeted education, technology, specialized teams, and by empowering women with diabetes.
{"title":"Diabetes in Pregnancy","authors":"H. Murphy, J. Yamamoto","doi":"10.1093/med/9780198870197.003.0272","DOIUrl":"https://doi.org/10.1093/med/9780198870197.003.0272","url":null,"abstract":"Although there have been many advances in the treatment of diabetes, the goal of the St. Vincent Declaration (1989) that the outcome of diabetic pregnancy approximates that of non-diabetic pregnancy has still not been realized. Women with diabetes still have an increased risk of pregnancy-related complications including preterm delivery, large-for-gestational-age, neonatal hypoglycaemia, congenital anomaly, stillbirth, and neonatal death. The landscape of diabetes in pregnancy has changed dramatically with one in six pregnancies affected by maternal hyperglycaemia. Approximately half of all women with pre-gestational diabetes in pregnancy now have pre-gestational type 2 diabetes (T2D). This represents a 90% increase in the proportion of pregnancies complicated by T2D over 15 years. Likewise, recent data suggest a 44% increase in the number of pregnancies complicated by type 1 diabetes (T1D). While there remains much room for improvement, pregnancy outcomes for most women with diabetes are good. This likely reflects improvements such as obstetric surveillance, tighter glycaemic targets, improved diabetes technologies, and specialized interdisciplinary teams. There is also evidence of recent improvements, with a 2.5-fold reduction in stillbirths in a large contemporary UK cohort of women with pre-gestational diabetes in pregnancy compared to 15 years earlier. The goal now is to further improve pregnancy outcomes in women with diabetes by optimizing pre-pregnancy care, glycaemic control, and obstetric and diabetes-related surveillance using targeted education, technology, specialized teams, and by empowering women with diabetes.","PeriodicalId":130301,"journal":{"name":"Oxford Textbook of Endocrinology and Diabetes 3e","volume":"189 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":"132007052","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}
Pub Date : 2021-07-01DOI: 10.1093/med/9780198870197.003.0038
R. Volpe, C. Sawin
This chapter is a brief summary of the history and art related to the thyroid gland. The reader is referred to other sources for an exhaustive exposition of these matters at the end of the chapter in its References. Knowledge of goitre (which was not known to be a thyroid enlargement until about the sixteenth century) goes back into antiquity. From this early documentation of goitre and cretinism in prehistoric times, to the discovery of iodine at the beginning of the nineteenth century and beyond, thyroid conditions and their treatment—including hyper- and hypothyroidism, cretinism, Graves’ disease, goitre, myxoedema, and fibrous thyroiditis—have been known by humankind for millennia.
{"title":"The History and Iconography Relating to the Thyroid Gland","authors":"R. Volpe, C. Sawin","doi":"10.1093/med/9780198870197.003.0038","DOIUrl":"https://doi.org/10.1093/med/9780198870197.003.0038","url":null,"abstract":"This chapter is a brief summary of the history and art related to the thyroid gland. The reader is referred to other sources for an exhaustive exposition of these matters at the end of the chapter in its References. Knowledge of goitre (which was not known to be a thyroid enlargement until about the sixteenth century) goes back into antiquity. From this early documentation of goitre and cretinism in prehistoric times, to the discovery of iodine at the beginning of the nineteenth century and beyond, thyroid conditions and their treatment—including hyper- and hypothyroidism, cretinism, Graves’ disease, goitre, myxoedema, and fibrous thyroiditis—have been known by humankind for millennia.","PeriodicalId":130301,"journal":{"name":"Oxford Textbook of Endocrinology and Diabetes 3e","volume":"16 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":"132301930","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}
Pub Date : 2021-07-01DOI: 10.1093/med/9780198870197.003.0030
N. Karavitaki, Shu Teng Chai, Shahzad Ahmed
A pituitary incidentaloma is defined strictly as a totally asymptomatic tumour, clinically and biochemically silent, discovered incidentally in a patient who is asymptomatic or, less strictly, a pituitary mass discovered in the course of evaluation for an unrelated problem. The prevalence of pituitary incidentalomas found by computed tomography (CT) ranges from 3.7% to 20% and of those found by MRI is around 10%. Although the differential diagnosis is wide, the most common aetiology is pituitary adenoma. The diagnostic evaluation includes assessment for hormonal hypersecretion and for pressure effects by the lesion (mainly hypopituitarism and visual disturbance). Overall, the published data suggest that lesions smaller than 1 cm follow benign course. In contrast, masses bigger than 1 cm are associated with higher risk of enlargement often leading to pressure effects and requiring neurosurgical intervention. If surgery is not indicated, regular follow-up mainly with imaging is recommended. A safe and cost-effective protocol for this remains to be elucidated.
{"title":"Pituitary Incidentalomas","authors":"N. Karavitaki, Shu Teng Chai, Shahzad Ahmed","doi":"10.1093/med/9780198870197.003.0030","DOIUrl":"https://doi.org/10.1093/med/9780198870197.003.0030","url":null,"abstract":"A pituitary incidentaloma is defined strictly as a totally asymptomatic tumour, clinically and biochemically silent, discovered incidentally in a patient who is asymptomatic or, less strictly, a pituitary mass discovered in the course of evaluation for an unrelated problem. The prevalence of pituitary incidentalomas found by computed tomography (CT) ranges from 3.7% to 20% and of those found by MRI is around 10%. Although the differential diagnosis is wide, the most common aetiology is pituitary adenoma. The diagnostic evaluation includes assessment for hormonal hypersecretion and for pressure effects by the lesion (mainly hypopituitarism and visual disturbance). Overall, the published data suggest that lesions smaller than 1 cm follow benign course. In contrast, masses bigger than 1 cm are associated with higher risk of enlargement often leading to pressure effects and requiring neurosurgical intervention. If surgery is not indicated, regular follow-up mainly with imaging is recommended. A safe and cost-effective protocol for this remains to be elucidated.","PeriodicalId":130301,"journal":{"name":"Oxford Textbook of Endocrinology and Diabetes 3e","volume":"44 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":"134128564","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}
Pub Date : 2021-07-01DOI: 10.1093/med/9780198870197.003.0155
S. Berga
Gonadal function sufficient to support gametogenesis requires appropriate gonadotropin-releasing hormone (GnRH) input to drive appropriate pituitary secretion of LH and FSH. Alterations in GnRH drive either cause or reflect gonadal dysfunction. Hypothalamic hypogonadism in men and women results from functional, theoretically reversible, reductions in GnRH drive that are linked to stress, that is, cognitions and behaviours that activate the limbic hypothalamic–pituitary–adrenal axis. Common manifestations of insufficient GnRH drive in women include anovulation and amenorrhea. Amelioration of adrenal activation has been shown to restore ovulatory ovarian function in women with functional hypothalamic amenorrhea.
{"title":"Disorders of Gonadotropin Secretion","authors":"S. Berga","doi":"10.1093/med/9780198870197.003.0155","DOIUrl":"https://doi.org/10.1093/med/9780198870197.003.0155","url":null,"abstract":"Gonadal function sufficient to support gametogenesis requires appropriate gonadotropin-releasing hormone (GnRH) input to drive appropriate pituitary secretion of LH and FSH. Alterations in GnRH drive either cause or reflect gonadal dysfunction. Hypothalamic hypogonadism in men and women results from functional, theoretically reversible, reductions in GnRH drive that are linked to stress, that is, cognitions and behaviours that activate the limbic hypothalamic–pituitary–adrenal axis. Common manifestations of insufficient GnRH drive in women include anovulation and amenorrhea. Amelioration of adrenal activation has been shown to restore ovulatory ovarian function in women with functional hypothalamic amenorrhea.","PeriodicalId":130301,"journal":{"name":"Oxford Textbook of Endocrinology and Diabetes 3e","volume":"45 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":"134278210","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}
Pub Date : 2021-07-01DOI: 10.1093/med/9780198870197.003.0231
S. Romeo, B. Angelin, P. Parini
While monogenic diseases are typically considered rare, elevated lipoprotein levels due to single sequence variants are fairly common, with, for example, the prevalence of familial hypercholesterolaemia being as high as 1 in 250 in the general population. Identification of such monogenic disorders and formal genetic diagnosis is imperative to tailor treatment and to pre-empt complications in family members carrying pathogenic mutations. Dyslipidaemias may be ‘primary’ and genetic, in which severe dyslipidaemia is the inevitable result of an underlying genetic mutation, and these will be the main focus of this chapter. This chapter also aims to provide an accessible account of known monogenic disorders causing hyperlipidaemia, with a focus on diagnosis and treatment.
{"title":"Genetic Forms of Dyslipidaemia","authors":"S. Romeo, B. Angelin, P. Parini","doi":"10.1093/med/9780198870197.003.0231","DOIUrl":"https://doi.org/10.1093/med/9780198870197.003.0231","url":null,"abstract":"While monogenic diseases are typically considered rare, elevated lipoprotein levels due to single sequence variants are fairly common, with, for example, the prevalence of familial hypercholesterolaemia being as high as 1 in 250 in the general population. Identification of such monogenic disorders and formal genetic diagnosis is imperative to tailor treatment and to pre-empt complications in family members carrying pathogenic mutations. Dyslipidaemias may be ‘primary’ and genetic, in which severe dyslipidaemia is the inevitable result of an underlying genetic mutation, and these will be the main focus of this chapter. This chapter also aims to provide an accessible account of known monogenic disorders causing hyperlipidaemia, with a focus on diagnosis and treatment.","PeriodicalId":130301,"journal":{"name":"Oxford Textbook of Endocrinology and Diabetes 3e","volume":"24 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":"131537744","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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