Paraneoplastic Endocrine Syndromes
Cushing Syndrome
Adrenocorticotropic Hormone
Carcinoid Tumor
Esthesioneuroblastoma, Olfactory
Pituitary ACTH Hypersecretion
Hormones, Ectopic
Metyrapone
Pro-Opiomelanocortin
Hydrocortisone
Petrosal Sinus Sampling
Corticotropin-Releasing Hormone
Down Syndrome
Metabolic Syndrome X
Severe muscle weakness due to hypokalemia as a manifestation of small-cell carcinoma. (1/112)
We describe the case of a 56-year-old man with severe muscle weakness due to heavy hypokalemia (serum potassium 1.44 mmol/l) associated with inappropriate kaliuria and alkalemia. Subsequent investigation revealed the presence of ectopic ACTH hypersecretion due to a small-cell lung carcinoma. A significant clinical/laboratory improvement was achieved following chemotherapy-induced regression of the primary tumor. The profound hypokalemia was probably the result of cortisol hypersecretion, which in concert with the ACTH-induced decreased 11beta-hydroxysteroid dehydrogenase activity can exhibit an increased mineralocorticoid activity. In addition, other ACTH-dependent mineralocorticoids may play a contributory role in the development of severe hypokalemia. (+info)Carcinoid-associated ectopic ACTH syndrome with variable response to octreotide. (2/112)
The case is presented of a 31-year-old woman who developed florid clinical and biochemical Cushing's syndrome due to metastatic hepatic carcinoid tumour from a probable pancreatic primary. Hypercortisolaemia was controlled with metyrapone and ketoconazole, but high doses of octreotide failed to affect plasma cortisol and urinary 5-hydroxyindole acetic acid (5HIAA) levels, or prevent rapid tumour growth. Hepatic polystyrene embolisation failed, and she was treated by liver transplantation with initial excellent results, and normalisation of cortisol and 5HIAA levels. Ten months later, however, she relapsed with bony and pelvic tumour recurrence, and high and symptomatic levels of cortisol and 5HIAA. At this time, octreotide in similar doses to those used previously appeared to normalise her biochemically, although she died soon after. This variable responsiveness to octreotide could be related to somatostatin receptor changes, or cyclical tumour secretion patterns. (+info)Marked increase in plasma ACTH with tumor reduction after chemotherapy in ectopic ACTH syndrome. (3/112)
We report on a case of rapid and marked hormone release as a result of rapid tumor reduction due to chemotherapy in a 36-year-old woman with ectopic ACTH syndrome due to small cell lung cancer. Treatment of the cancer with cisplatin and etoposide resulted in an 80% reduction in tumor size on computed tomographic scan within two weeks. Concurrently, plasma ACTH exhibited an unexpected and astonishing increase from 373 pg/ml before treatment to more than 1200 pg/ml. There were no biochemical characteristics observed in tumor lysis syndrome of solid tumors such as azotemia, increased LDH and hyperkalemia. The present case indicates that anticancer chemotherapy instituted in patients with ectopic ACTH syndrome could result in an acute increase of plasma ACTH and exacerbation of hypercortisolism, similar to tumor lysis syndrome, which is a potentially fatal complication following anti-cancer chemotherapy. (+info)Is whole-lung CT scanning still necessary in all cases of ACTH-dependent Cushing's syndrome in the era of petrosal sinus sampling? (4/112)
We reviewed 31 patients in whom both bilateral inferior petrosal sinus sampling without CRH stimulation, and a CT scan of the lungs were done. Twenty-five had normal lung CT scans, of whom 23 had a higher inferior petrosal sinus: peripheral ACTH ratio > or = 1.5. After careful follow-up, none was subsequently shown to have ectopic ACTH syndrome. Six had abnormal lung CT scans, of whom two had ratios > or = 1.5. In these two patients, other investigations suggested pituitary disease, and pituitary surgery led to apparent cure. Of the remaining four patients, who had ratios < 1.5, two had incidental lung findings, and pituitary abnormalities were demonstrated at pituitary surgery. The third underwent bilateral adrenalectomy, and no evidence of ectopic ACTH syndrome has emerged as yet after 4 years follow-up. The fourth had a small-cell carcinoma of the lung, confirmed histologically. Our series suggests that whole-lung CT scanning is only necessary in cases of ACTH-dependent Cushing's syndrome where bilateral inferior petrosal sinus sampling has not demonstrated a significant increase in petrosal sinus ACTH levels as compared with the peripheral level. Thus, in our experience the test is now only necessary in those patients (approximately 25%) where the ratio is < or = 1.5. (+info)Thymic hyperplasia as a source of ectopic ACTH production. (5/112)
A 26 year-old man with suspected Cushing's disease underwent transsphenoidal exploration of the pituitary without any evidence of microadenoma or hyperplasia. Progressive hypercortisolism necessitated bilateral adrenalectomy. Postoperatively, skin pigmentation gradually developed with a marked elevation of plasma ACTH levels, and CT scanning uncovered a thymic mass. Following removal of the thymic mass, skin pigmentation disappeared and plasma ACTH levels fell to normal. The excised mass was found to be a benign thymic hyperplasia without epithelial or carcinoid tumor cells. However, gel chromatography showed that the thymic tissue extract contained high ACTH content comparable to that of ectopic ACTH-producing tumors with a major component corresponding to ACTH(1-39). Northern blot analysis and in situ hybridization revealed the expression of proopiomelanocortin transcripts in lymphocytes of thymic hyperplasia. This report suggests that lymphocytes in thymic hyperplasia are the most likely site of deregulated ACTH expression causing ectopic ACTH syndrome. (+info)Clinical implications of glucocorticoid metabolism by 11beta-hydroxysteroid dehydrogenases in target tissues. (6/112)
11beta-Hydroxysteroid dehydrogenases (11beta-HSD) are microsomal enzymes that catalyze the conversion of active glucocorticoids (GC) to their inactive 11-dehydro products and vice versa. Two isoenzymes of 11beta-HSD have been characterized and cloned in human tissues. The tissue-specific metabolism of GC by these enzymes is important for mineralocorticoid (MC) and GC receptor occupancy and seems to play a crucial role in the pathogenesis of diseases such as apparent MC excess syndrome, and may play roles in hypertension, obesity and impaired hepatic glucose homeostasis. This article reviews the literature and examines the role and importance of 11beta-HSD in humans. (+info)A new generation IRMA for ACTH with improved specificity: validation in various physiological and pathological conditions. (7/112)
OBJECTIVE: Measurement of plasma ACTH is a key step for the exploration of hypothalamic-pituitary-adrenal disorders. To further improve ACTH recognition a new generation of ACTH IRMA was developed using antibodies directed towards succinylated ACTH (sACTH IRMA). DESIGN: The usefulness of this assay was compared with that of another commercially available ACTH IRMA assay using intact ACTH (ELSA-ACTH) in various pathophysiological situations: patients with low ACTH plasma levels, high ACTH plasma levels with normal or tumoural pituitaries, or ectopic ACTH syndrome, and pregnant women with high proopiomelanocortin (POMC) plasma levels. METHODS: All plasma samples were assayed simultaneously with the two different IRMAs. Comparisons were assessed by plotting the results along the theoretical line of identical values, and by the graphical method of Bland and Altman. RESULTS: In the ELSA-ACTH IRMA, CLIP (or ACTH18-39) showed true cross-reactivity, and alpha-melanocyte-stimulating hormone and purified POMC both interfered and induced falsely lower ACTH results; in the sACTH IRMA no peptide showed any cross-reactivity, and only extremely high values of CLIP (50 000 pg/ml) interfered and induced falsely lower ACTH results. In ACTH hypersecretory syndromes, of tumoural (Cushing's disease, ectopic ACTH secretion) or non-tumoural (Addison's disease, congenital adrenal hyperplasia) origins a good agreement between the two assays was observed except for very high ACTH plasma values (above 1000 pg/ml) and in some tumours where the sACTH IRMA yielded lower results; in some cases, the presence of circulating CLIP, demonstrated by HPLC studies, may contribute to this discrepancy. It is also likely that the calibration of the ELSA-ACTH kit itself generates higher ACTH values. In normal pregnant women both IRMAs gave highly correlated values, yet lower results were obtained with the sACTH IRMA. CONCLUSION: These data show that the sACTH IRMA has improved qualities of specificity and usefulness for rapid assessment of ACTH plasma levels. (+info)Ectopic adrenocorticotropin syndrome exhibiting paradoxical adrenocorticotropin responsiveness to gonadotropin-releasing hormone. (8/112)
In a 37-year-old man who had Cushing's syndrome, investigations, including overnight dexamethasone suppression test, corticotropin-releasing hormone (CRH) test, pituitary MRI and inferior petrosal sinus sampling suggested the presence of ectopic adrenocorticotropin (ACTH) production. Interestingly, gonadotropin-releasing hormone (GnRH) increased plasma ACTH from 73 pg/ml to 708 pg/ml at 15 min. Furthermore, desmopressin also increased plasma ACTH whereas CRH and thyrotropin-releasing hormone (TRH) had no effect. Such paradoxical responses of plasma ACTH were observed repeatedly. A thoracic CT scan revealed a right anterior mediastinal mass, which was surgically resected. Histological and immunohistochemical examination confirmed that the tumor was an ACTH-producing carcinoid. ACTH and cortisol decreased immediately following surgery. Neither desmopressin nor GnRH administration resulted in elevation of plasma ACTH while ACTH-responsiveness to dexamethasone and CRH was restored. To our knowledge, this is the first report documenting GnRH responsiveness in ectopic ACTH syndrome. (+info)Ectopic ACTH syndrome is a medical condition characterized by the excessive production of adrenocorticotropic hormone (ACTH) from a source outside of the pituitary gland, typically from a tumor in another part of the body. The most common sources of ectopic ACTH are small-cell lung carcinomas, but it can also occur with other types of tumors such as thymic carcinoids, pancreatic islet cell tumors, and bronchial carcinoids.
The excessive production of ACTH leads to an overproduction of cortisol from the adrenal glands, resulting in a constellation of symptoms known as Cushing's syndrome. These symptoms can include weight gain, muscle weakness, thinning of the skin, easy bruising, mood changes, and high blood pressure, among others.
Ectopic ACTH syndrome is typically more severe than pituitary-dependent Cushing's syndrome, and it may be more difficult to diagnose and treat due to the underlying tumor causing the excessive ACTH production. Treatment usually involves removing the tumor or controlling its growth, as well as managing the symptoms of Cushing's syndrome with medications that block cortisol production or action.
Paraneoplastic endocrine syndromes refer to a group of hormonal and related disorders that occur as remote effects of cancer. They are caused by substances (like hormones, peptides, or antibodies) produced by the tumor, which may be benign or malignant, and can affect various organs and systems in the body. These syndromes can occur before the cancer is diagnosed, making them an important consideration for early detection and treatment of the underlying malignancy.
Examples of paraneoplastic endocrine syndromes include:
1. Syndrome of Inappropriate Antidiuretic Hormone (SIADH): This occurs when a tumor, often small cell lung cancer, produces antidiuretic hormone (ADH), leading to excessive water retention and low sodium levels in the blood.
2. Cushing's Syndrome: Excessive production of adrenocorticotropic hormone (ACTH) by a tumor, often a small cell lung cancer or pancreatic neuroendocrine tumor, can lead to increased cortisol levels and symptoms such as weight gain, muscle weakness, and mood changes.
3. Ectopic Production of Parathyroid Hormone-Related Peptide (PTHrP): This occurs when a tumor, often a squamous cell carcinoma, produces PTHrP, leading to increased calcium levels in the blood and symptoms such as bone pain, kidney stones, and confusion.
4. Hypercalcemia of Malignancy: Excessive production of calcitriol (active vitamin D) by a tumor, often a lymphoma or myeloma, can lead to increased calcium levels in the blood and symptoms such as bone pain, kidney stones, and confusion.
5. Carcinoid Syndrome: This occurs when a neuroendocrine tumor, often in the gastrointestinal tract, produces serotonin and other substances, leading to symptoms such as flushing, diarrhea, and heart problems.
It is important to note that these syndromes can also be caused by non-cancerous conditions, so a thorough evaluation is necessary to make an accurate diagnosis.
Cushing syndrome is a hormonal disorder that occurs when your body is exposed to high levels of the hormone cortisol for a long time. This can happen due to various reasons such as taking high doses of corticosteroid medications or tumors that produce cortisol or adrenocorticotropic hormone (ACTH).
The symptoms of Cushing syndrome may include:
* Obesity, particularly around the trunk and upper body
* Thinning of the skin, easy bruising, and purple or red stretch marks on the abdomen, thighs, breasts, and arms
* Weakened bones, leading to fractures
* High blood pressure
* High blood sugar
* Mental changes such as depression, anxiety, and irritability
* Increased fatigue and weakness
* Menstrual irregularities in women
* Decreased fertility in men
Cushing syndrome can be diagnosed through various tests, including urine and blood tests to measure cortisol levels, saliva tests, and imaging tests to locate any tumors. Treatment depends on the cause of the condition but may include surgery, radiation therapy, chemotherapy, or adjusting medication dosages.
Bronchial neoplasms refer to abnormal growths or tumors in the bronchi, which are the large airways that lead into the lungs. These neoplasms can be benign (non-cancerous) or malignant (cancerous). Malignant bronchial neoplasms are often referred to as lung cancer and can be further classified into small cell lung cancer and non-small cell lung cancer, depending on the type of cells involved.
Benign bronchial neoplasms are less common than malignant ones and may include growths such as papillomas, hamartomas, or chondromas. While benign neoplasms are not cancerous, they can still cause symptoms and complications if they grow large enough to obstruct the airways or if they become infected.
Treatment for bronchial neoplasms depends on several factors, including the type, size, location, and stage of the tumor, as well as the patient's overall health and medical history. Treatment options may include surgery, radiation therapy, chemotherapy, or a combination of these approaches.
Adrenocorticotropic Hormone (ACTH) is a hormone produced and released by the anterior pituitary gland, a small endocrine gland located at the base of the brain. ACTH plays a crucial role in the regulation of the body's stress response and has significant effects on various physiological processes.
The primary function of ACTH is to stimulate the adrenal glands, which are triangular-shaped glands situated on top of the kidneys. The adrenal glands consist of two parts: the outer cortex and the inner medulla. ACTH specifically targets the adrenal cortex, where it binds to specific receptors and initiates a series of biochemical reactions leading to the production and release of steroid hormones, primarily cortisol (a glucocorticoid) and aldosterone (a mineralocorticoid).
Cortisol is involved in various metabolic processes, such as regulating blood sugar levels, modulating the immune response, and helping the body respond to stress. Aldosterone plays a vital role in maintaining electrolyte and fluid balance by promoting sodium reabsorption and potassium excretion in the kidneys.
ACTH release is controlled by the hypothalamus, another part of the brain, which produces corticotropin-releasing hormone (CRH). CRH stimulates the anterior pituitary gland to secrete ACTH, which in turn triggers cortisol production in the adrenal glands. This complex feedback system helps maintain homeostasis and ensures that appropriate amounts of cortisol are released in response to various physiological and psychological stressors.
Disorders related to ACTH can lead to hormonal imbalances, resulting in conditions such as Cushing's syndrome (excessive cortisol production) or Addison's disease (insufficient cortisol production). Proper diagnosis and management of these disorders typically involve assessing the function of the hypothalamic-pituitary-adrenal axis and addressing any underlying issues affecting ACTH secretion.
A carcinoid tumor is a type of slow-growing neuroendocrine tumor that usually originates in the digestive tract, particularly in the small intestine. These tumors can also arise in other areas such as the lungs, appendix, and rarely in other organs. Carcinoid tumors develop from cells of the diffuse endocrine system (also known as the neuroendocrine system) that are capable of producing hormones or biologically active amines.
Carcinoid tumors can produce and release various hormones and bioactive substances, such as serotonin, histamine, bradykinins, prostaglandins, and tachykinins, which can lead to a variety of symptoms. The most common syndrome associated with carcinoid tumors is the carcinoid syndrome, characterized by flushing, diarrhea, abdominal cramping, and wheezing or difficulty breathing.
Carcinoid tumors are typically classified as functional or nonfunctional based on whether they produce and secrete hormones that cause symptoms. Functional carcinoid tumors account for approximately 30% of cases and can lead to the development of carcinoid syndrome, while nonfunctional tumors do not produce significant amounts of hormones and are often asymptomatic until they grow large enough to cause local or distant complications.
Treatment options for carcinoid tumors depend on the location, size, and extent of the tumor, as well as whether it is functional or nonfunctional. Treatment may include surgery, medications (such as somatostatin analogs, chemotherapy, or targeted therapies), and radiation therapy. Regular follow-up with imaging studies and biochemical tests is essential to monitor for recurrence and assess treatment response.
A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.
For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.
It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.
Esthesioneuroblastoma, also known as olfactory neuroblastoma, is a rare type of malignant tumor that develops in the upper part of the nasal cavity, near the area responsible for the sense of smell (olfaction). It arises from the olfactory nerve cells and typically affects adults between 20 to 50 years old, although it can occur at any age.
Esthesioneuroblastomas are characterized by their aggressive growth and potential to spread to other parts of the head and neck, as well as distant organs such as the lungs, bones, and bone marrow. Symptoms may include nasal congestion, nosebleeds, loss of smell, facial pain or numbness, bulging eyes, and visual disturbances.
Diagnosis is usually made through a combination of clinical examination, imaging studies (such as MRI or CT scans), and biopsy. Treatment typically involves surgical resection of the tumor, followed by radiation therapy and/or chemotherapy to reduce the risk of recurrence. Regular follow-up care is essential due to the possibility of late relapse.
Overall, prognosis varies depending on factors such as the stage of the disease at diagnosis, the patient's age, and the effectiveness of treatment. While some individuals may experience long-term survival or even cure, others may face more aggressive tumor behavior and a higher risk of recurrence.
Pituitary ACTH hypersecretion, also known as Cushing's disease, is a condition characterized by the excessive production of adrenocorticotropic hormone (ACTH) from the pituitary gland. This results in an overproduction of cortisol, a steroid hormone produced by the adrenal glands, leading to a constellation of symptoms known as Cushing's syndrome.
In Cushing's disease, a benign tumor called an adenoma develops on the pituitary gland, causing it to release excess ACTH. This in turn stimulates the adrenal glands to produce more cortisol than necessary. The resulting high levels of cortisol can cause various symptoms such as weight gain, particularly around the trunk and face (central obesity), thinning of the skin, bruising, weakness, fatigue, mood changes, high blood pressure, and an increased risk of infections.
It is important to distinguish Cushing's disease from other causes of Cushing's syndrome, such as cortisol-producing adrenal tumors or exogenous sources of corticosteroid use, as the treatment approach may differ. Treatment for Cushing's disease typically involves surgical removal of the pituitary tumor, with additional medical management and/or radiation therapy in some cases.
Ectopic hormone production refers to the situation when a hormone is produced in an unusual location or by a type of cell that does not typically produce it. This can occur due to various reasons such as genetic mutations, cancer, or other medical conditions. The ectopic hormone production can lead to hormonal imbalances and related symptoms, as the regulation of hormones in the body becomes disrupted.
For example, in some cases of lung cancer, the tumor cells may produce adrenocorticotropic hormone (ACTH), which is typically produced by the pituitary gland. This ectopic ACTH production can result in Cushing's syndrome, a condition characterized by symptoms such as weight gain, muscle weakness, and high blood pressure.
It's important to note that ectopic hormone production is relatively rare and usually occurs in the context of specific medical conditions. If you suspect that you or someone else may have ectopic hormone production, it's important to seek medical attention from a healthcare professional who can provide appropriate evaluation and treatment.
Metyrapone is a medication that is primarily used in the diagnosis and treatment of Cushing's syndrome, a condition characterized by excessive levels of cortisol hormone in the body. It works as an inhibitor of steroidogenesis, specifically blocking the enzyme 11-beta-hydroxylase, which is involved in the production of cortisol in the adrenal gland.
By inhibiting this enzyme, metyrapone prevents the formation of cortisol and leads to an accumulation of its precursor, 11-deoxycortisol. This can help restore the balance of hormones in the body and alleviate symptoms associated with Cushing's syndrome.
It is important to note that metyrapone should only be used under the supervision of a healthcare professional, as it can have significant side effects and interactions with other medications.
Pro-opiomelanocortin (POMC) is a precursor protein that gets cleaved into several biologically active peptides in the body. These peptides include adrenocorticotropic hormone (ACTH), beta-lipotropin, and multiple opioid peptides such as beta-endorphin, met-enkephalin, and leu-enkephalin.
ACTH stimulates the release of cortisol from the adrenal gland, while beta-lipotropin has various metabolic functions. The opioid peptides derived from POMC have pain-relieving (analgesic) and rewarding effects in the brain. Dysregulation of the POMC system has been implicated in several medical conditions, including obesity, addiction, and certain types of hormone deficiencies.
Thymus neoplasms are abnormal growths in the thymus gland that result from uncontrolled cell division. The term "neoplasm" refers to any new and abnormal growth of tissue, also known as a tumor. Thymus neoplasms can be benign or malignant (cancerous).
Malignant thymus neoplasms are called thymomas or thymic carcinomas. Thymomas are the most common type and tend to grow slowly, invading nearby tissues and organs. They can also spread (metastasize) to other parts of the body. Thymic carcinomas are rarer and more aggressive, growing and spreading more quickly than thymomas.
Symptoms of thymus neoplasms may include coughing, chest pain, difficulty breathing, or swelling in the neck or upper chest. Treatment options for thymus neoplasms depend on the type, size, location, and stage of the tumor, as well as the patient's overall health. Treatment may include surgery, radiation therapy, chemotherapy, or a combination of these approaches.
Hydrocortisone is a synthetic glucocorticoid, which is a class of steroid hormones. It is identical to the naturally occurring cortisol, a hormone produced by the adrenal gland that helps regulate metabolism and helps your body respond to stress. Hydrocortisone has anti-inflammatory effects and is used to treat various inflammatory conditions such as allergies, skin disorders, and autoimmune diseases. It works by suppressing the immune system's response to reduce swelling, redness, itching, and other symptoms caused by inflammation.
Hydrocortisone is available in different forms, including oral tablets, topical creams, lotions, gels, and ointments, as well as injectable solutions. The specific use and dosage depend on the condition being treated and the individual patient's medical history and current health status.
As with any medication, hydrocortisone can have side effects, especially when used in high doses or for extended periods. Common side effects include increased appetite, weight gain, mood changes, insomnia, and skin thinning. Long-term use of hydrocortisone may also increase the risk of developing osteoporosis, diabetes, cataracts, and other health problems. Therefore, it is essential to follow your healthcare provider's instructions carefully when using this medication.
Petrosal sinus sampling is a medical procedure used to help diagnose the source of hormonal hypersecretion, particularly in cases of Cushing's syndrome that are difficult to locate. The petrosal sinuses are small veins located near the pituitary gland in the brain.
During the procedure, a catheter is inserted through the patient's femoral vein and guided up to the petrosal sinuses. Samples of blood are then taken from each sinus and tested for levels of adrenocorticotropic hormone (ACTH). If there is a significant difference in ACTH levels between the two samples, it suggests that the source of the hypersecretion is likely located in the pituitary gland.
If the ACTH levels are similar in both petrosal sinuses, it may indicate an ectopic source of ACTH production outside of the pituitary gland, such as in a lung tumor. The procedure can help guide treatment decisions and determine whether surgery or other therapies are appropriate.
Corticotropin-Releasing Hormone (CRH) is a hormone that is produced and released by the hypothalamus, a small gland located in the brain. CRH plays a critical role in the body's stress response system.
When the body experiences stress, the hypothalamus releases CRH, which then travels to the pituitary gland, another small gland located at the base of the brain. Once there, CRH stimulates the release of adrenocorticotropic hormone (ACTH) from the pituitary gland.
ACTH then travels through the bloodstream to the adrenal glands, which are located on top of the kidneys. ACTH stimulates the adrenal glands to produce and release cortisol, a hormone that helps the body respond to stress by regulating metabolism, immune function, and blood pressure, among other things.
Overall, CRH is an important part of the hypothalamic-pituitary-adrenal (HPA) axis, which regulates many bodily functions related to stress response, mood, and cognition. Dysregulation of the HPA axis and abnormal levels of CRH have been implicated in various psychiatric and medical conditions, including depression, anxiety disorders, post-traumatic stress disorder (PTSD), and Cushing's syndrome.
Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is characterized by intellectual and developmental disabilities, distinctive facial features, and sometimes physical growth delays and health problems. The condition affects approximately one in every 700 babies born in the United States.
Individuals with Down syndrome have varying degrees of cognitive impairment, ranging from mild to moderate or severe. They may also have delayed development, including late walking and talking, and may require additional support and education services throughout their lives.
People with Down syndrome are at increased risk for certain health conditions, such as congenital heart defects, respiratory infections, hearing loss, vision problems, gastrointestinal issues, and thyroid disorders. However, many individuals with Down syndrome live healthy and fulfilling lives with appropriate medical care and support.
The condition is named after John Langdon Down, an English physician who first described the syndrome in 1866.
Metabolic syndrome, also known as Syndrome X, is a cluster of conditions that increase the risk of heart disease, stroke, and diabetes. It is not a single disease but a group of risk factors that often co-occur. According to the American Heart Association and the National Heart, Lung, and Blood Institute, a person has metabolic syndrome if they have any three of the following five conditions:
1. Abdominal obesity (waist circumference of 40 inches or more in men, and 35 inches or more in women)
2. Triglyceride level of 150 milligrams per deciliter of blood (mg/dL) or greater
3. HDL cholesterol level of less than 40 mg/dL in men or less than 50 mg/dL in women
4. Systolic blood pressure of 130 millimeters of mercury (mmHg) or greater, or diastolic blood pressure of 85 mmHg or greater
5. Fasting glucose level of 100 mg/dL or greater
Metabolic syndrome is thought to be caused by a combination of genetic and lifestyle factors, such as physical inactivity and a diet high in refined carbohydrates and unhealthy fats. Treatment typically involves making lifestyle changes, such as eating a healthy diet, getting regular exercise, and losing weight if necessary. In some cases, medication may also be needed to manage individual components of the syndrome, such as high blood pressure or high cholesterol.