Diets that boost ketone production are increasingly used for treating several neurological disorders. Elevation in ketones in most cases is considered favorable, as they provide energy and are efficient in fueling the body's energy needs.Several physiological and pathological triggers, such as fasting, ketogenic diet, and diabetes cause an accumulation and elevation of circulating ketones. Complications of the brain, kidney, liver, and microvasculature were found to be elevated in diabetic patients who had elevated ketones compared to those diabetics with normal ketone levels. Diabetic ketoacidosis is an acute metabolic complication of diabetes characterized by hyperglycemia, hyperketonemia, and metabolic acidosis. Hyperglycemia causes an osmotic diuresis with significant fluid and electrolyte loss. DKA occurs mostly in type 1 diabetes mellitus (DM). It causes nausea, vomiting, and abdominal pain and can progress to cerebral edema, coma, and death. DKA is diagnosed by detection of hyperketonemia and anion gap metabolic acidosis in the presence of hyperglycemia. Treatment involves volume expansion, insulin replacement, and prevention of hypokalemia. Diabetic ketoacidosis (DKA) is a rare yet potentially fatal hyperglycemic crisis that can occur in patients with both type 1 and 2 diabetes mellitus. Due to its increasing incidence and economic impact related to the treatment and associated morbidity, effective management and prevention is key. Elements of management include making the appropriate diagnosis using current laboratory tools and clinical criteria and coordinating fluid resuscitation, insulin therapy, and electrolyte replacement through feedback obtained from timely patient monitoring and knowledge of resolution criteria. In addition, awareness of special populations such as patients with renal disease presenting with DKA is important. During the DKA therapy, complications may arise and appropriate strategies to prevent these complications are required. DKA prevention strategies including patient and provider education are important. This review aims to provide a brief overview of DKA from its pathophysiology to clinical presentation with in depth focus on up-to-date therapeutic management.
{"title":"Hyperketonemia: Clinical features and diagnosis of Diabetic Ketoacidosis","authors":"R. Hassannezhad","doi":"10.31579/2640-1045/033","DOIUrl":"https://doi.org/10.31579/2640-1045/033","url":null,"abstract":"Diets that boost ketone production are increasingly used for treating several neurological disorders. Elevation in ketones in most cases is considered favorable, as they provide energy and are efficient in fueling the body's energy needs.Several physiological and pathological triggers, such as fasting, ketogenic diet, and diabetes cause an accumulation and elevation of circulating ketones. Complications of the brain, kidney, liver, and microvasculature were found to be elevated in diabetic patients who had elevated ketones compared to those diabetics with normal ketone levels. Diabetic ketoacidosis is an acute metabolic complication of diabetes characterized by hyperglycemia, hyperketonemia, and metabolic acidosis. Hyperglycemia causes an osmotic diuresis with significant fluid and electrolyte loss. DKA occurs mostly in type 1 diabetes mellitus (DM). It causes nausea, vomiting, and abdominal pain and can progress to cerebral edema, coma, and death. DKA is diagnosed by detection of hyperketonemia and anion gap metabolic acidosis in the presence of hyperglycemia. Treatment involves volume expansion, insulin replacement, and prevention of hypokalemia. Diabetic ketoacidosis (DKA) is a rare yet potentially fatal hyperglycemic crisis that can occur in patients with both type 1 and 2 diabetes mellitus. Due to its increasing incidence and economic impact related to the treatment and associated morbidity, effective management and prevention is key. Elements of management include making the appropriate diagnosis using current laboratory tools and clinical criteria and coordinating fluid resuscitation, insulin therapy, and electrolyte replacement through feedback obtained from timely patient monitoring and knowledge of resolution criteria. In addition, awareness of special populations such as patients with renal disease presenting with DKA is important. During the DKA therapy, complications may arise and appropriate strategies to prevent these complications are required. DKA prevention strategies including patient and provider education are important. This review aims to provide a brief overview of DKA from its pathophysiology to clinical presentation with in depth focus on up-to-date therapeutic management.","PeriodicalId":72909,"journal":{"name":"Endocrinology and disorders : open access","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46406039","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}
The Transferrin is an iron ion transport protein with a biological function that is important to avoid toxic effects due to high intra and extracellular iron ion concentrations [1]. The cellular protective function attributed to transferrin, especially to the germ and support cells (Sertoli cells), is due to its possible antioxidative function exerted together with another protein linked to iron metabolism, ferritin. Seminal transferrin (ST) is an isoform of plasma transferrin, abundant in seminal fluid, secretory product of Sertoli cells (80%)p.
{"title":"Editorial: Seminal Transferrin in the Seminal Quality Evaluation of Hemodialytic Patients","authors":"G. Silva","doi":"10.31579/2640-1045/036","DOIUrl":"https://doi.org/10.31579/2640-1045/036","url":null,"abstract":"The Transferrin is an iron ion transport protein with a biological function that is important to avoid toxic effects due to high intra and extracellular iron ion concentrations [1]. The cellular protective function attributed to transferrin, especially to the germ and support cells (Sertoli cells), is due to its possible antioxidative function exerted together with another protein linked to iron metabolism, ferritin. Seminal transferrin (ST) is an isoform of plasma transferrin, abundant in seminal fluid, secretory product of Sertoli cells (80%)p.","PeriodicalId":72909,"journal":{"name":"Endocrinology and disorders : open access","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46138113","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}
The prevalence of diabetes (DM) is constantly increasing worldwide at an alarming rate. According to the International Diabetes Federation in 2015, an estimated 415 million people globally were suffering from this condition. Complications of DM account for increased morbidity, disability, and mortality and represent a threat for the economies of all countries, especially the developing ones. The present special issue has been devoted to the recent progress in our understanding of diabetic complications, including the underlying molecular mechanisms, new diagnostic tools that facilitate early diagnosis, and novel treatment options. This special issue focuses on progress and challenges in basic and clinical research on these chronic complications of diabetes. The end-stage consequences of diabetic complications can include severe vision loss; end-stage renal disease necessitating dialysis or transplant; myocardial infarction and stroke; and amputations. Many of these life-threatening or disabling events can be preventable with proper “life-long” diabetes care and a healthy lifestyle.
{"title":"A Review Based Study of Diabetic Complications: Meta-Analysis in people with type 2 Diabetes Mellitus","authors":"Nasser Daghria","doi":"10.31579/2640-1045/016","DOIUrl":"https://doi.org/10.31579/2640-1045/016","url":null,"abstract":"The prevalence of diabetes (DM) is constantly increasing worldwide at an alarming rate. According to the International Diabetes Federation in 2015, an estimated 415 million people globally were suffering from this condition. Complications of DM account for increased morbidity, disability, and mortality and represent a threat for the economies of all countries, especially the developing ones. The present special issue has been devoted to the recent progress in our understanding of diabetic complications, including the underlying molecular mechanisms, new diagnostic tools that facilitate early diagnosis, and novel treatment options. This special issue focuses on progress and challenges in basic and clinical research on these chronic complications of diabetes. The end-stage consequences of diabetic complications can include severe vision loss; end-stage renal disease necessitating dialysis or transplant; myocardial infarction and stroke; and amputations. Many of these life-threatening or disabling events can be preventable with proper “life-long” diabetes care and a healthy lifestyle.","PeriodicalId":72909,"journal":{"name":"Endocrinology and disorders : open access","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45649520","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}
Gigantism refers to a condition characterized by extreme physical size and stature. By definition, this originates during infancy, childhood or adolescence, when epiphyseal growth plates remain open. Although the term gigantism may be applied to a number of non-hormonally mediated overgrowth conditions in children, it is often used to specifically denote growth hormone(GH) excess. GH excess during childhood and adolescence is extremely rare, with the total number of reported cases thus far numbering only in the hundreds. Herein we present such a case.
{"title":"Hyper Secretion of GH: Pituitary Gigantism","authors":"A. Ballin","doi":"10.31579/2640-1045/017","DOIUrl":"https://doi.org/10.31579/2640-1045/017","url":null,"abstract":"Gigantism refers to a condition characterized by extreme physical size and stature. By definition, this originates during infancy, childhood or adolescence, when epiphyseal growth plates remain open. Although the term gigantism may be applied to a number of non-hormonally mediated overgrowth conditions in children, it is often used to specifically denote growth hormone(GH) excess. GH excess during childhood and adolescence is extremely rare, with the total number of reported cases thus far numbering only in the hundreds. Herein we present such a case.","PeriodicalId":72909,"journal":{"name":"Endocrinology and disorders : open access","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47707926","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}
Acromegaly is a rare disease most often caused by the prolonged secretion of excess growth hormone from a pituitary adenoma. The disease is associated with multiple significant comorbidities and increased mortality. The delay to diagnosis is often long. This may be because of low disease awareness among health care professionals, the insidious onset of differentiating features, and because patients are likely to present with complaints typical of other conditions more frequently seen in primary care. Early identification of acromegaly facilitates prompt treatment initiation and may minimize the permanent effects of excess growth hormone. The primary treatment for many patients will be pituitary surgery, although not all patients will be eligible for surgery or achieve a surgical cure
{"title":"Nature Reviews Endocrinology: Acromegaly","authors":"Chike Obi, Claudio Achebe","doi":"10.31579/2640-1045/019","DOIUrl":"https://doi.org/10.31579/2640-1045/019","url":null,"abstract":"Acromegaly is a rare disease most often caused by the prolonged secretion of excess growth hormone from a pituitary adenoma. The disease is associated with multiple significant comorbidities and increased mortality. The delay to diagnosis is often long. This may be because of low disease awareness among health care professionals, the insidious onset of differentiating features, and because patients are likely to present with complaints typical of other conditions more frequently seen in primary care. Early identification of acromegaly facilitates prompt treatment initiation and may minimize the permanent effects of excess growth hormone. The primary treatment for many patients will be pituitary surgery, although not all patients will be eligible for surgery or achieve a surgical cure","PeriodicalId":72909,"journal":{"name":"Endocrinology and disorders : open access","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44539891","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}
The thymus, a primary lymphoid organ and the initial site for development of T cell immunological function, is morphologically similar across species. It is actually an epithelial organ in which its epithelial cells provide a framework containing T cells as well as smaller numbers of other lymphoid cells. A symbiotic interaction exists between the thymic microinvironment and developing T cells, and the specificity of T cell release into the systemic circulation is under thymic control. The thymic cortex in a young animal is heavily populated by developing T cells along with a smaller proportion of associated epithelial cells. Larger, more mature T cells are found in the medulla where epithelial and other cell types are more abundant. Understanding normal morphological features of the thymus and their perturbations provides a cornerstone to assessing immune system function.
{"title":"Innervation of the Thymus Gland: A Short Review of Function and Histology","authors":"Bolaji Babalola","doi":"10.31579/2640-1045/022","DOIUrl":"https://doi.org/10.31579/2640-1045/022","url":null,"abstract":"The thymus, a primary lymphoid organ and the initial site for development of T cell immunological function, is morphologically similar across species. It is actually an epithelial organ in which its epithelial cells provide a framework containing T cells as well as smaller numbers of other lymphoid cells. A symbiotic interaction exists between the thymic microinvironment and developing T cells, and the specificity of T cell release into the systemic circulation is under thymic control. The thymic cortex in a young animal is heavily populated by developing T cells along with a smaller proportion of associated epithelial cells. Larger, more mature T cells are found in the medulla where epithelial and other cell types are more abundant. Understanding normal morphological features of the thymus and their perturbations provides a cornerstone to assessing immune system function.","PeriodicalId":72909,"journal":{"name":"Endocrinology and disorders : open access","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43297831","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}
Our laboratory has investigated two hypotheses regarding the effects of fructose consumption: 1) The endocrine effects of fructose consumption favor a positive energy balance, and 2) Fructose consumption promotes the development of an atherogenic lipid profile. In previous short- and long-term studies, we demonstrated that consumption of fructose-sweetened beverages with 3 meals results in lower 24-hour plasma concentrations of glucose, insulin, and leptin in humans compared with consumption of glucose-sweetened beverages. We have also tested whether prolonged consumption of high-fructose diets could lead to increased caloric intake or decreased energy expenditure, thereby contributing to weight gain and obesity. Results from a study conducted in rhesus monkeys produced equivocal results. Carefully controlled and adequately powered long-term studies are needed to address these hypotheses. In both short- and long-term studies we demonstrated that consumption of fructose-sweetened beverages substantially increases postprandial triacylglycerol concentrations compared with glucose-sweetened beverages. In the long-term studies, apolipoproteinB concentrations were also increased in subjects consuming fructose, but not those consuming glucose. Data from a short-term study comparing consumption of beverages sweetened with fructose, glucose, high fructose corn syrup (HFCS) and sucrose, suggest that HFCS and sucrose increase postprandial triacylglycerol to an extent comparable to that induced by 100% fructose alone. Increased consumption of fructose-sweetened beverages along with increased prevalence of obesity, metabolic syndrome, and type 2 diabetes underscore the importance of investigating the metabolic consequences fructose consumption in carefully controlled experiments.
{"title":"Insulin-Mediated Glucose Metabolism: An Atherogenic Lipid Profile of Fructose Consumption","authors":"E. Kagotho","doi":"10.31579/2640-1045/021","DOIUrl":"https://doi.org/10.31579/2640-1045/021","url":null,"abstract":"Our laboratory has investigated two hypotheses regarding the effects of fructose consumption: 1) The endocrine effects of fructose consumption favor a positive energy balance, and 2) Fructose consumption promotes the development of an atherogenic lipid profile. In previous short- and long-term studies, we demonstrated that consumption of fructose-sweetened beverages with 3 meals results in lower 24-hour plasma concentrations of glucose, insulin, and leptin in humans compared with consumption of glucose-sweetened beverages. We have also tested whether prolonged consumption of high-fructose diets could lead to increased caloric intake or decreased energy expenditure, thereby contributing to weight gain and obesity. Results from a study conducted in rhesus monkeys produced equivocal results. Carefully controlled and adequately powered long-term studies are needed to address these hypotheses. In both short- and long-term studies we demonstrated that consumption of fructose-sweetened beverages substantially increases postprandial triacylglycerol concentrations compared with glucose-sweetened beverages. In the long-term studies, apolipoproteinB concentrations were also increased in subjects consuming fructose, but not those consuming glucose. Data from a short-term study comparing consumption of beverages sweetened with fructose, glucose, high fructose corn syrup (HFCS) and sucrose, suggest that HFCS and sucrose increase postprandial triacylglycerol to an extent comparable to that induced by 100% fructose alone. Increased consumption of fructose-sweetened beverages along with increased prevalence of obesity, metabolic syndrome, and type 2 diabetes underscore the importance of investigating the metabolic consequences fructose consumption in carefully controlled experiments.","PeriodicalId":72909,"journal":{"name":"Endocrinology and disorders : open access","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49641697","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}
Adrenal Gland The adrenal glands are controlled in part by the brain. The hypothalamus, a small area of the brain involved in hormonal regulation, produces corticotropin-releasing hormone (CRH) and vasopressin (also known as antidiuretic hormone). Vasopressin and CRH trigger the pituitary gland to secrete corticotropin (also known as adrenocorticotropic hormone or ACTH), which stimulates the adrenal glands to produce corticosteroids. The renin-angiotensin-aldosterone system, regulated mostly by the kidneys, causes the adrenal glands to produce more or less aldosterone. The body controls the levels of corticosteroids according to need. The levels tend to be much higher in the early morning than later in the day. When the body is stressed, due to illness or otherwise, the levels of corticosteroids increase dramatically.
{"title":"Clinical Endocrinology: A Review of Adrenal Gland Hormonal and Endocrine Metabolic Disorders.","authors":"Sandra Nicole Slagter","doi":"10.31579/2640-1045/014","DOIUrl":"https://doi.org/10.31579/2640-1045/014","url":null,"abstract":"Adrenal Gland The adrenal glands are controlled in part by the brain. The hypothalamus, a small area of the brain involved in hormonal regulation, produces corticotropin-releasing hormone (CRH) and vasopressin (also known as antidiuretic hormone). Vasopressin and CRH trigger the pituitary gland to secrete corticotropin (also known as adrenocorticotropic hormone or ACTH), which stimulates the adrenal glands to produce corticosteroids. The renin-angiotensin-aldosterone system, regulated mostly by the kidneys, causes the adrenal glands to produce more or less aldosterone. The body controls the levels of corticosteroids according to need. The levels tend to be much higher in the early morning than later in the day. When the body is stressed, due to illness or otherwise, the levels of corticosteroids increase dramatically.","PeriodicalId":72909,"journal":{"name":"Endocrinology and disorders : open access","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46309773","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}
Pituitary adenoma (PA) is a benign primary tumor that arises from the pituitary gland and is associated with ophthalmological, neurological and endocrinological abnormalities. However, causes that increase tumor progressing recurrence and invasiveness are still undetermined. Most adenomas are benign, approximately 35% are invasive and just 0.1% to 0.2% are carcinomas.Pituitary adenomas represent from 10% to 25% of all intracranial neoplasms and the estimated prevalence rate in the general population is approximately 17% Non-invasive and non-secreting pituitary adenomas are considered to be benign in the literal as well as the clinical sense; however a recent meta-analysis of available research has shown there are to date scant studies – of poor quality – to either support or refute this assumption. Etiology Adenomas which exceed 10 millimetres (0.39 in) in size are defined as macroadenomas, with those smaller than 10 mm referred to as microadenomas. Most pituitary adenomas are microadenomas, and have an estimated prevalence of 16.7% (14.4% in autopsy studies and 22.5% in radiologic studies). A majority of pituitary microadenomas often remain undiagnosed and those that are diagnosed are often found as an incidental finding, and are referred to as incidentalomas. Pituitary macroadenomas are the most common cause of hypopituitarism, and in the majority of cases they are non-secreting adenomas.While pituitary adenomas are common, affecting approximately one in 6 of the general population, clinically active pituitary adenomas that require surgical treatment are more rare, affecting approximately one in 1000 of the general population.
{"title":"How to deal pituitary Adenomas: A Retro prospective Study","authors":"Kreiter Gomari","doi":"10.31579/2640-1045/032","DOIUrl":"https://doi.org/10.31579/2640-1045/032","url":null,"abstract":"Pituitary adenoma (PA) is a benign primary tumor that arises from the pituitary gland and is associated with ophthalmological, neurological and endocrinological abnormalities. However, causes that increase tumor progressing recurrence and invasiveness are still undetermined. Most adenomas are benign, approximately 35% are invasive and just 0.1% to 0.2% are carcinomas.Pituitary adenomas represent from 10% to 25% of all intracranial neoplasms and the estimated prevalence rate in the general population is approximately 17% Non-invasive and non-secreting pituitary adenomas are considered to be benign in the literal as well as the clinical sense; however a recent meta-analysis of available research has shown there are to date scant studies – of poor quality – to either support or refute this assumption. Etiology Adenomas which exceed 10 millimetres (0.39 in) in size are defined as macroadenomas, with those smaller than 10 mm referred to as microadenomas. Most pituitary adenomas are microadenomas, and have an estimated prevalence of 16.7% (14.4% in autopsy studies and 22.5% in radiologic studies). A majority of pituitary microadenomas often remain undiagnosed and those that are diagnosed are often found as an incidental finding, and are referred to as incidentalomas. Pituitary macroadenomas are the most common cause of hypopituitarism, and in the majority of cases they are non-secreting adenomas.While pituitary adenomas are common, affecting approximately one in 6 of the general population, clinically active pituitary adenomas that require surgical treatment are more rare, affecting approximately one in 1000 of the general population.","PeriodicalId":72909,"journal":{"name":"Endocrinology and disorders : open access","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70017244","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}
Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is characterized by impairment in normal steroid production. Patients with the most severe forms also have decreased adrenomedullary function. However, the clinical implications of epinephrine deficiency are not clear. Objective: Evaluate the adrenomedullary function in children with salt-wasting congenital adrenal hyperplasia (SW CAH) and assess its relationship to the number of hospitalizations due to adrenal crises. We compare the clinical, analytical and genotypic characteristics and the therapeutic needs of patients with and without adrenomedullary disfunction. Methods: We measured 24-hours urine catecholamine levels (epinephrine, norepinephrine, and dopamine) and 21-hydroxylase genotype in 21 SW CAH. Results: 11 SW CAH had adrenomedullary disfunction characterized by undetectable urine epinephrine, and interestingly, had >8 adrenal crises during infanthood. Other 10 SW CAH had normal values of urine epinephrine and had less than 4 adrenal crises during infanthood. There were no significant differences in hydrocortisone (16.08 ± 3.4 mg/m2/day vs 16.98 ± 5.01 mg/m2/day) and 9fluorohydroxortisone (0.072 ± 0.06 mg/m2/day vs 0,101 ± 0.12 mg/m2 /day) doses, although the mean value of 17-OHP (0.04 ng/ml (0.1-1.3) vs 26.7 ng/ml (0.1-79)); ATCH (45pg/ml (30.9-122)vs 71 pg/ml (34-271)), aldosterone (50 pg/ml (50-50) vs 50 pg/ml (50-244)), and androstenedione(0 ng/ml (0-0,4) vs 2,6 ng/ml (0-5.3)) was lower in patients with undetectable urine epinephrine. 11 SW CAH with urinary epinephrine deficiency had most severe genotype. Conclusion: SW CAH with undetectable epinephrine in urine had several crises during infanthood. The measurement of urine epinephrine is well correlated with the clinical severity of the disease and the expected activity of 21-hydroxilase.
{"title":"Adrenomedullary Function in 21-Hydroxilase Deficiency. Is There an Association with adrenal Crises?","authors":"Echeverria Fernández M","doi":"10.31579/2640-1045/002","DOIUrl":"https://doi.org/10.31579/2640-1045/002","url":null,"abstract":"Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is characterized by impairment in normal steroid production. Patients with the most severe forms also have decreased adrenomedullary function. However, the clinical implications of epinephrine deficiency are not clear. Objective: Evaluate the adrenomedullary function in children with salt-wasting congenital adrenal hyperplasia (SW CAH) and assess its relationship to the number of hospitalizations due to adrenal crises. We compare the clinical, analytical and genotypic characteristics and the therapeutic needs of patients with and without adrenomedullary disfunction. Methods: We measured 24-hours urine catecholamine levels (epinephrine, norepinephrine, and dopamine) and 21-hydroxylase genotype in 21 SW CAH. Results: 11 SW CAH had adrenomedullary disfunction characterized by undetectable urine epinephrine, and interestingly, had >8 adrenal crises during infanthood. Other 10 SW CAH had normal values of urine epinephrine and had less than 4 adrenal crises during infanthood. There were no significant differences in hydrocortisone (16.08 ± 3.4 mg/m2/day vs 16.98 ± 5.01 mg/m2/day) and 9fluorohydroxortisone (0.072 ± 0.06 mg/m2/day vs 0,101 ± 0.12 mg/m2 /day) doses, although the mean value of 17-OHP (0.04 ng/ml (0.1-1.3) vs 26.7 ng/ml (0.1-79)); ATCH (45pg/ml (30.9-122)vs 71 pg/ml (34-271)), aldosterone (50 pg/ml (50-50) vs 50 pg/ml (50-244)), and androstenedione(0 ng/ml (0-0,4) vs 2,6 ng/ml (0-5.3)) was lower in patients with undetectable urine epinephrine. 11 SW CAH with urinary epinephrine deficiency had most severe genotype. Conclusion: SW CAH with undetectable epinephrine in urine had several crises during infanthood. The measurement of urine epinephrine is well correlated with the clinical severity of the disease and the expected activity of 21-hydroxilase.","PeriodicalId":72909,"journal":{"name":"Endocrinology and disorders : open access","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2017-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45082575","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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