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- Congenital adrenal hyperplasia (CAH)
Congenital adrenal hyperplasia (CAH) is the medical name for a group of genetic conditions that affect the adrenal glands. The adrenal glands are a pair of walnut-sized organs above the kidneys. They make important hormones, including: Cortisol. This controls the body's response to illness or stress. Mineralocorticoids such as aldosterone. These control sodium and potassium levels. Androgens such as testosterone. These sex hormones are needed for growth and development in both males and females. In people with CAH, a gene change results in a lack of one of the enzyme proteins needed to make these hormones. The two major types of congenital adrenal hyperplasia are: Classic CAH. This type is rarer and more serious. It's usually found by tests at birth or in early infancy. Nonclassic CAH. This type is milder and more common. It may not be found until childhood or early adulthood. There is no cure for congenital adrenal hyperplasia. But with proper treatment, most people who have CAH can lead full lives. Symptoms Symptoms of CAH vary. The symptoms depend on which gene is affected. They also depend on how greatly the adrenal glands lack one of the enzymes needed to make hormones. With CAH, the hormones that the body needs to work properly are thrown out of balance. That may lead to too little cortisol, too little aldosterone, too many androgens or a mix of these issues. Classic CAH Symptoms of classic CAH can include: Not enough cortisol. With classic CAH, the body doesn't make enough of the hormone cortisol. This can cause problems keeping blood pressure, blood sugar and energy at healthy levels. It also can cause problems during physical stress such as illness. Adrenal crisis. People with classic CAH can be seriously affected by a lack of cortisol, aldosterone or both. This is known as an adrenal crisis. It can be life-threatening. External genitals that don't look typical. In female infants, some parts of the genitals on the outside of the body may look different than usual. For instance, the clitoris may be enlarged and resemble a penis. The labia may be partly closed and look like a scrotum. The tube through which urine leaves the body and the vagina may be one opening instead of two separate openings. The uterus, fallopian tubes and ovaries often develop in a typical manner. Male infants with CAH often have genitals that look typical but sometimes are enlarged. Too much androgen. An excess of the male sex hormone androgen can lead to short height and early puberty for children. Pubic hair and other signs of puberty may appear at a very early age. Serious acne also may occur. Extra androgen hormones in females may lead to facial hair, more body hair than usual and a deeper voice. Altered growth. Children may grow fast. And their bones could be more developed than is typical for their age. Final height may be shorter than average. Fertility issues. These can include irregular menstrual periods or not having periods at all. Some women with classic CAH may have trouble becoming pregnant. Fertility issues sometimes can occur in men. Nonclassic CAH Often, there are no symptoms of nonclassic CAH when a baby is born. Some people with nonclassic CAH never have symptoms. The condition is not found on routine infant blood screening tests. If symptoms occur, they usually appear in late childhood or early adulthood. Females who have nonclassic CAH may have genitals that look typical at birth. Later in life, they may have: Irregular menstrual periods, or none at all. Trouble getting pregnant. Features such as facial hair, more body hair than usual and a deeper voice. Sometimes, nonclassic CAH may be confused with a hormonal condition that happens during the reproductive years called polycystic ovary syndrome. Nonclassic CAH symptoms in children of either birth sex also can include: Symptoms of early puberty, such as growth of pubic hair sooner than usual. Serious acne. Rapid growth during childhood with bones that are more developed than is typical. Shorter than expected final height. When to see a doctor Most often, classic CAH is found at birth through routine newborn screening tests. Or it's found when a baby's outer genitals do not look typical. CAH also may be detected when infants show symptoms of serious illness due to low levels of cortisol, aldosterone or both. In children who have nonclassic CAH, symptoms of early puberty may appear. If you have concerns about your child's growth or development, schedule a checkup with your child's healthcare professional. In older people who have irregular periods, trouble getting pregnant or both, screening for CAH may be appropriate. If you are planning pregnancy or are pregnant and may be at risk of CAH, ask your healthcare professional about genetic counseling. A genetic counselor can tell you if your genes might affect you or any children you decide to have. Causes The most common cause of CAH is the lack of the enzyme protein known as 21-hydroxylase. Sometimes, CAH is called 21-hydroxylase deficiency. The body needs this enzyme to make proper amounts of hormones. Very rarely, a lack of other much rarer enzymes also can cause CAH. CAH is a genetic condition. That means it's passed from parents to children. It's present at birth. Children with the condition have two parents who both carry the genetic change that causes CAH. Or they have two parents who have CAH themselves. This is known as the autosomal recessive inheritance pattern. People can carry the CAH gene and not have symptoms of the condition. This is called being a silent carrier. If a silent carrier becomes pregnant, that person can pass the gene to a child. If tests show that you're a silent carrier of the CAH gene and you have a partner of the opposite sex, talk with your healthcare professional. It's likely that your partner will need to get tested for the CAH gene before pregnancy so that you can better understand the risks. Risk factors Factors that raise the risk of having CAH include: Parents who both have CAH. Parents who are both carriers of the changed gene that causes CAH. Being of Ashkenazi Jewish, Latino, Mediterranean, Yugoslav or Yup'ik descent. Complications People who have classic CAH are at risk of a life-threatening condition called adrenal crisis. This emergency needs to be treated right away. Adrenal crisis can happen within the first few days after birth. It also can be triggered at any age by an infectious illness or physical stress such as surgery. With adrenal crisis, very low levels of cortisol in the blood can cause: Diarrhea. Vomiting. Dehydration. Confusion. Low blood sugar levels. Seizures. Shock. Coma. Aldosterone also may be low. This leads to dehydration, low sodium and high potassium levels. The nonclassic form of CAH doesn't cause adrenal crisis. People who have either classic or nonclassic CAH may have irregular menstrual cycles and fertility issues. Prevention There is no known way to prevent CAH. If you're thinking of starting a family and you're at risk of having a child with CAH, talk with your healthcare professional. You may be told to see a genetic counselor.
- Chronic kidney disease
Chronic kidney disease, also called chronic kidney failure, involves a gradual loss of kidney function. Your kidneys filter wastes and excess fluids from your blood, which are then removed in your urine. Advanced chronic kidney disease can cause dangerous levels of fluid, electrolytes and wastes to build up in your body. In the early stages of chronic kidney disease, you might have few signs or symptoms. You might not realize that you have kidney disease until the condition is advanced. Treatment for chronic kidney disease focuses on slowing the progression of kidney damage, usually by controlling the cause. But, even controlling the cause might not keep kidney damage from progressing. Chronic kidney disease can progress to end-stage kidney failure, which is fatal without artificial filtering (dialysis) or a kidney transplant. Symptoms Signs and symptoms of chronic kidney disease develop over time if kidney damage progresses slowly. Loss of kidney function can cause a buildup of fluid or body waste or electrolyte problems. Depending on how severe it is, loss of kidney function can cause: Nausea Vomiting Loss of appetite Fatigue and weakness Sleep problems Urinating more or less Decreased mental sharpness Muscle cramps Swelling of feet and ankles Dry, itchy skin High blood pressure (hypertension) that's difficult to control Shortness of breath, if fluid builds up in the lungs Chest pain, if fluid builds up around the lining of the heart Signs and symptoms of kidney disease are often nonspecific. This means they can also be caused by other illnesses. Because your kidneys are able to make up for lost function, you might not develop signs and symptoms until irreversible damage has occurred. When to see a doctor Make an appointment with your doctor if you have signs or symptoms of kidney disease. Early detection might help prevent kidney disease from progressing to kidney failure. If you have a medical condition that increases your risk of kidney disease, your doctor may monitor your blood pressure and kidney function with urine and blood tests during office visits. Ask your doctor whether these tests are necessary for you.
- Carcinoid tumors
Carcinoid tumors are a type of slow-growing cancer that can arise in several places throughout your body. Carcinoid tumors, which are one subset of tumors called neuroendocrine tumors, usually begin in the digestive tract (stomach, appendix, small intestine, colon, rectum) or in the lungs. Carcinoid tumors often don't cause signs and symptoms until late in the disease. Carcinoid tumors can produce and release hormones into your body that cause signs and symptoms such as diarrhea or skin flushing. Treatment for carcinoid tumors usually includes surgery and may include medications. Symptoms Some carcinoid tumors don't cause any signs or symptoms. When they do occur, signs and symptoms are usually vague and depend on the location of the tumor. Carcinoid tumors in the lungs Signs and symptoms of carcinoid lung tumors include: Chest pain Wheezing Shortness of breath Diarrhea Redness or a feeling of warmth in your face and neck (skin flushing) Weight gain, particularly around the midsection and upper back Pink or purple marks on the skin that look like stretch marks Carcinoid tumors in the digestive tract Signs and symptoms of carcinoid tumors in the digestive tract include: Abdominal pain Diarrhea Nausea, vomiting and inability to pass stool due to intestinal blockage (bowel obstruction) Rectal bleeding Rectal pain Redness or a feeling of warmth in your face and neck (skin flushing) When to see a doctor If you experience any signs and symptoms that bother you and are persistent, make an appointment with your doctor.
- Cancer
Cancer refers to any one of a large number of diseases characterized by the development of abnormal cells that divide uncontrollably and have the ability to infiltrate and destroy normal body tissue. Cancer often has the ability to spread throughout your body. Cancer is the second-leading cause of death in the world. But survival rates are improving for many types of cancer, thanks to improvements in cancer screening, treatment and prevention. Symptoms Signs and symptoms caused by cancer will vary depending on what part of the body is affected. Some general signs and symptoms associated with, but not specific to, cancer, include: Fatigue Lump or area of thickening that can be felt under the skin Weight changes, including unintended loss or gain Skin changes, such as yellowing, darkening or redness of the skin, sores that won't heal, or changes to existing moles Changes in bowel or bladder habits Persistent cough or trouble breathing Difficulty swallowing Hoarseness Persistent indigestion or discomfort after eating Persistent, unexplained muscle or joint pain Persistent, unexplained fevers or night sweats Unexplained bleeding or bruising When to see a doctor Make an appointment with your doctor if you have any persistent signs or symptoms that concern you. If you don't have any signs or symptoms, but are worried about your risk of cancer, discuss your concerns with your doctor. Ask about which cancer screening tests and procedures are appropriate for you. Causes Cancer is caused by changes (mutations) to the DNA within cells. The DNA inside a cell is packaged into a large number of individual genes, each of which contains a set of instructions telling the cell what functions to perform, as well as how to grow and divide. Errors in the instructions can cause the cell to stop its normal function and may allow a cell to become cancerous. What do gene mutations do? A gene mutation can instruct a healthy cell to: Allow rapid growth. A gene mutation can tell a cell to grow and divide more rapidly. This creates many new cells that all have that same mutation. Fail to stop uncontrolled cell growth. Normal cells know when to stop growing so that you have just the right number of each type of cell. Cancer cells lose the controls (tumor suppressor genes) that tell them when to stop growing. A mutation in a tumor suppressor gene allows cancer cells to continue growing and accumulating. Make mistakes when repairing DNA errors. DNA repair genes look for errors in a cell's DNA and make corrections. A mutation in a DNA repair gene may mean that other errors aren't corrected, leading cells to become cancerous. These mutations are the most common ones found in cancer. But many other gene mutations can contribute to causing cancer. What causes gene mutations? Gene mutations can occur for several reasons, for instance: Gene mutations you're born with. You may be born with a genetic mutation that you inherited from your parents. This type of mutation accounts for a small percentage of cancers. Gene mutations that occur after birth. Most gene mutations occur after you're born and aren't inherited. A number of forces can cause gene mutations, such as smoking, radiation, viruses, cancer-causing chemicals (carcinogens), obesity, hormones, chronic inflammation and a lack of exercise. Gene mutations occur frequently during normal cell growth. However, cells contain a mechanism that recognizes when a mistake occurs and repairs the mistake. Occasionally, a mistake is missed. This could cause a cell to become cancerous. How do gene mutations interact with each other? The gene mutations you're born with and those that you acquire throughout your life work together to cause cancer. For instance, if you've inherited a genetic mutation that predisposes you to cancer, that doesn't mean you're certain to get cancer. Instead, you may need one or more other gene mutations to cause cancer. Your inherited gene mutation could make you more likely than other people to develop cancer when exposed to a certain cancer-causing substance. It's not clear just how many mutations must accumulate for cancer to form. It's likely that this varies among cancer types. Risk factors While doctors have an idea of what may increase your risk of cancer, the majority of cancers occur in people who don't have any known risk factors. Factors known to increase your risk of cancer include: Your age Cancer can take decades to develop. That's why most people diagnosed with cancer are 65 or older. While it's more common in older adults, cancer isn't exclusively an adult disease — cancer can be diagnosed at any age. Your habits Certain lifestyle choices are known to increase your risk of cancer. Smoking, drinking more than one drink a day for women and up to two drinks a day for men, excessive exposure to the sun or frequent blistering sunburns, being obese, and having unsafe sex can contribute to cancer. You can change these habits to lower your risk of cancer — though some habits are easier to change than others. Your family history Only a small portion of cancers are due to an inherited condition. If cancer is common in your family, it's possible that mutations are being passed from one generation to the next. You might be a candidate for genetic testing to see whether you have inherited mutations that might increase your risk of certain cancers. Keep in mind that having an inherited genetic mutation doesn't necessarily mean you'll get cancer. Your health conditions Some chronic health conditions, such as ulcerative colitis, can markedly increase your risk of developing certain cancers. Talk to your doctor about your risk. Your environment The environment around you may contain harmful chemicals that can increase your risk of cancer. Even if you don't smoke, you might inhale secondhand smoke if you go where people are smoking or if you live with someone who smokes. Chemicals in your home or workplace, such as asbestos and benzene, also are associated with an increased risk of cancer. Complications Cancer and its treatment can cause several complications, including: Pain. Pain can be caused by cancer or by cancer treatment, though not all cancer is painful. Medications and other approaches can effectively treat cancer-related pain. Fatigue. Fatigue in people with cancer has many causes, but it can often be managed. Fatigue associated with chemotherapy or radiation therapy treatments is common, but it's usually temporary. Difficulty breathing. Cancer or cancer treatment may cause a feeling of being short of breath. Treatments may bring relief. Nausea. Certain cancers and cancer treatments can cause nausea. Your doctor can sometimes predict if your treatment is likely to cause nausea. Medications and other treatments may help you prevent or decrease nausea. Diarrhea or constipation. Cancer and cancer treatment can affect your bowels and cause diarrhea or constipation. Weight loss. Cancer and cancer treatment may cause weight loss. Cancer steals food from normal cells and deprives them of nutrients. This is often not affected by how many calories or what kind of food is eaten; it's difficult to treat. In most cases, using artificial nutrition through tubes into the stomach or vein does not help change the weight loss. Chemical changes in your body. Cancer can upset the normal chemical balance in your body and increase your risk of serious complications. Signs and symptoms of chemical imbalances might include excessive thirst, frequent urination, constipation and confusion. Brain and nervous system problems. Cancer can press on nearby nerves and cause pain and loss of function of one part of your body. Cancer that involves the brain can cause headaches and stroke-like signs and symptoms, such as weakness on one side of your body. Unusual immune system reactions to cancer. In some cases the body's immune system may react to the presence of cancer by attacking healthy cells. Called paraneoplastic syndromes, these very rare reactions can lead to a variety of signs and symptoms, such as difficulty walking and seizures. Cancer that spreads. As cancer advances, it may spread (metastasize) to other parts of the body. Where cancer spreads depends on the type of cancer. Cancer that returns. Cancer survivors have a risk of cancer recurrence. Some cancers are more likely to recur than others. Ask your doctor about what you can do to reduce your risk of cancer recurrence. Your doctor may devise a follow-up care plan for you after treatment. This plan may include periodic scans and exams in the months and years after your treatment, to look for cancer recurrence. Prevention Doctors have identified several ways to reduce your risk of cancer, such as: Stop smoking. If you smoke, quit. If you don't smoke, don't start. Smoking is linked to several types of cancer — not just lung cancer. Stopping now will reduce your risk of cancer in the future. Avoid excessive sun exposure. Harmful ultraviolet (UV) rays from the sun can increase your risk of skin cancer. Limit your sun exposure by staying in the shade, wearing protective clothing or applying sunscreen. Eat a healthy diet. Choose a diet rich in fruits and vegetables. Select whole grains and lean proteins. Limit your intake of processed meats. Exercise most days of the week. Regular exercise is linked to a lower risk of cancer. Aim for at least 30 minutes of exercise most days of the week. If you haven't been exercising regularly, start out slowly and work your way up to 30 minutes or longer. Maintain a healthy weight. Being overweight or obese may increase your risk of cancer. Work to achieve and maintain a healthy weight through a combination of a healthy diet and regular exercise. Drink alcohol in moderation, if you choose to drink. If you choose to drink alcohol, do so in moderation. For healthy adults, that means up to one drink a day for women and up to two drinks a day for men. Schedule cancer screening exams. Talk to your doctor about what types of cancer screening exams are best for you based on your risk factors. Ask your doctor about immunizations. Certain viruses increase your risk of cancer. Immunizations may help prevent those viruses, including hepatitis B, which increases the risk of liver cancer, and human papillomavirus (HPV), which increases the risk of cervical cancer and other cancers. Ask your doctor whether immunization against these viruses is appropriate for you.
- Benign adrenal tumors
Benign adrenal tumors are masses that aren't cancer. They form in the adrenal glands. The adrenal glands are part of the endocrine system. These glands make hormones that send messages to nearly every organ and tissue in the body. There are two adrenal glands, one above each kidney. Each gland has two types of tissue: the cortex and the medulla. Benign adrenal tumors that grow in the cortex are called adrenal adenomas. Those that grow in the medulla are called pheochromocytomas (fee-o-kroe-moe-sy-TOE-muhs). Most benign adrenal tumors cause no symptoms and don't need treatment. But sometimes these tumors make high levels of some hormones that can cause problems. Hormones from the cortex control metabolism, blood pressure and certain body features, such as hair growth. Hormones from the medulla control the body's response to stress. Symptoms Symptoms depend on whether the tumor makes hormones, what hormone it makes and how much it makes. But many benign adrenal gland tumors don't cause symptoms because they don't make hormones. The most common type of benign adrenal tumor, called adenoma, comes from the adrenal cortex. This type of tumor might cause symptoms such as: Weight gain. Easy bruising. High blood pressure, also called hypertension. Diabetes. Depressed mood. Tiredness. Muscle weakness or cramping. A type of benign adrenal tumor from the medulla is called pheochromocytoma. It might cause the following symptoms: High blood pressure, also called hypertension. Fast heartbeat. Sweating. Tremors. Headache. Causes The cause of benign adrenal tumors often is not known. Risk factors The following might raise the risk of developing a benign adrenal tumor: A family history of benign adrenal tumors. Certain syndromes passed through families, called genetic syndromes, that make benign adrenal tumors more likely. A history of having an adrenal tumor surgically removed.
- Adrenal cancer
Adrenal cancer is a growth of cells that starts in an adrenal gland. The adrenal glands are small, triangular glands located on top of the kidneys. Although small, these glands control much of what happens in the body. They make hormones that help control metabolism, blood pressure and other important functions. Adrenal cancer is rare, and it can happen at any age. It's most likely to affect children younger than 5 and adults in their 40s and 50s. Adrenal cancer also is called adrenocortical carcinoma. When adrenal cancer is found early, a cure may be possible. When the cancer has spread beyond the adrenal glands, a cure becomes less likely. In that situation, treatment may be used to keep the cancer from spreading more. Most growths that form in the adrenal glands are not cancer. The medical term for that is benign. An example of an adrenal growth that is not cancer is adrenal adenoma. Symptoms Signs and symptoms of adrenal cancer may include: Back pain. Belly pain. Losing weight without trying. Loss of appetite. Many people who have adrenal cancer develop hormone changes in the body. These changes can happen if the cancer cells make extra hormones. Most often, the adrenal cancer makes the hormone cortisol. This can cause symptoms of Cushing syndrome, including: Weight gain. Muscle weakness. Pink or purple stretch marks on the skin. Bruises that happen even with a small injury. High blood pressure. High blood sugar or diabetes. Less often, an adrenal cancer might make the sex hormones estrogen and testosterone. In females, changes in the sex hormones can cause extra facial hair, hair loss on the head and periods that aren't regular. In males, these hormone changes may cause the testicles to shrink and breast tissue to get bigger. Rarely, adrenal cancer may make the hormone aldosterone. That can cause high blood pressure and low levels of potassium in the blood. When to see a doctor Make an appointment with a healthcare professional if you have any symptoms that worry you. Causes It's not clear what causes adrenal cancer. Adrenal cancer happens when cells in the adrenal gland develop changes in their DNA. A cell's DNA holds the instructions that tell the cell what to do. In healthy cells, the DNA tells the cells to grow and multiply at a set rate. The DNA also tells the cells to die at a set time. In cancer cells, the DNA changes give different instructions. The changes tell the cancer cells to grow and multiply quickly. Cancer cells can keep living when healthy cells would die. This causes too many cells. The cancer cells might form a mass called a tumor. The tumor can grow to invade and destroy healthy body tissue. In time, cancer cells can break away and spread to other parts of the body. When cancer spreads, it's called metastatic cancer. Risk factors Adrenal cancer happens more often in people who inherit certain health conditions that raise the risk of some cancers. Those health conditions include: Beckwith-Wiedemann syndrome. Familial adenomatous polyposis. Li-Fraumeni syndrome. Lynch syndrome. Multiple endocrine neoplasia, type 1, also called MEN 1. Healthcare professionals haven't found anything that can prevent adrenal cancer.
- Adrenoleukodystrophy
Adrenoleukodystrophy (uh-dree-noh-loo-koh-DIS-truh-fee) is a type of hereditary (genetic) condition that damages the membrane (myelin sheath) that insulates nerve cells in your brain. In adrenoleukodystrophy (ALD), your body can't break down very long-chain fatty acids (VLCFAs), causing saturated VLCFAs to build up in your brain, nervous system and adrenal gland. The most common type of ALD is X-linked ALD, which is caused by a genetic defect on the X chromosome. X-linked ALD affects males more severely than females, who carry the disease. Forms of X-linked ALD include: Childhood-onset ALD. This form of X-linked ALD usually occurs between ages 4 and 10. The white matter of the brain is progressively damaged (leukodystrophy), and symptoms worsen over time. If not diagnosed early, childhood-onset ALD may lead to death within five to 10 years. Addison's disease. Hormone-producing glands (adrenal glands) often fail to produce enough steroids (adrenal insufficiency) in people who have ALD, causing a form of X-linked ALD known as Addison's disease. Adrenomyeloneuropathy. This adult-onset form of X-linked ALD is a less severe and slowly progressive form that causes symptoms such as a stiff gait and bladder and bowel dysfunction. Women who are carriers for ALD may develop a mild form of adrenomyeloneuropathy.
- Addison's disease
Addison's disease is a rare condition that happens when the body doesn't make enough of some hormones. Another name for Addison's disease is primary adrenal insufficiency. With Addison's disease, the adrenal glands make too little of the hormone cortisol. Often, they also make too little of another hormone called aldosterone. Damage to the adrenal glands causes Addison's disease. Symptoms can start slowly. Early symptoms may include extreme tiredness, salt cravings and weight loss. Addison's disease can affect anyone. Without treatment, it can be life-threatening. Treatment involves taking lab-made hormones to replace those that are missing. Symptoms Addison's disease symptoms usually happen slowly, often over months. The disease may happen so slowly that people who have it might ignore the symptoms at first. Physical stress such as an illness or injury can make symptoms get worse fast. Early symptoms of Addison's disease can affect you in various ways. Some early symptoms can cause discomfort or loss of energy, including: Extreme tiredness, also called fatigue. Dizziness or fainting when standing after sitting or lying down. This is due to a type of low blood pressure called postural hypotension. Sweating due to low blood sugar, also called hypoglycemia. Upset stomach, diarrhea or vomiting. Pain in the stomach area, also called the abdomen. Muscle cramps, weakness, widespread pain or joint pain. Other early symptoms can cause changes in how you look, such as: Body hair loss. Areas of darkened skin, especially on scars and moles. These changes may be harder to see on Black or brown skin. Weight loss due to less hunger. Early Addison's disease symptoms also can affect emotions, mental health and desires. These symptoms include: Depression. Irritable mood. Lower sex drive in women. Salt craving. Emergency symptoms due to adrenal crisis Sometimes the symptoms of Addison's disease become worse fast. If this happens, it's an emergency known as an adrenal crisis. You also may hear it called an addisonian crisis or acute adrenal failure. Call 911 or your local emergency number if you have Addison's disease with any the following symptoms: Serious weakness. Sudden, terrible pain in the lower back, stomach area or legs. Severe upset stomach, vomiting or diarrhea. Extreme loss of body water, also called dehydration. Fever. Confusion or much less awareness of the surroundings. Loss of consciousness. Low blood pressure and fainting. Without fast treatment, an adrenal crisis can lead to death. When to see a doctor See a healthcare professional if you have common symptoms of Addison's disease, such as: Long-lasting fatigue. Muscle weakness. Loss of appetite. Darkened areas of skin. Weight loss that doesn't happen on purpose. Serious upset stomach, vomiting or stomach pain. Lightheadedness or fainting with standing. Salt cravings. Get emergency care right away if you have any symptoms of an adrenal crisis.
- Acromegaly
Acromegaly is a rare condition in adults that causes some bones, organs and other tissue to grow bigger. A small gland in the brain called the pituitary gland drives these changes by making too much growth hormone. This usually happens due to a tumor of the pituitary gland. The tumor isn't cancer. When the body has too much growth hormone, bones get bigger. In childhood, this leads to increased height as part of a condition called gigantism. In adults with acromegaly, a change in height doesn't happen. Instead, bones in the hands, feet and face become bigger. These changes happen slowly over many years. So people with acromegaly and their loved ones may take a long time to notice the symptoms. And healthcare professionals may have a hard time finding and treating the condition early on. Without treatment, acromegaly can lead to other serious and sometimes life-threatening health conditions called complications. But treatments such as surgery, medicine and radiation can lower the risk of complications. Treatment also can improve many acromegaly symptoms. Symptoms Acromegaly symptoms can change the way some body parts look. Changes can include: Thick ears and lips. A broad nose. Enlarged hands and feet. A jutting brow or jaw. Gaps between teeth. An enlarged tongue. An expanded rib cage that may cause the chest to have a round shape. Skin changes can include: Acne. Harmless skin growths called skin tags. Coarse, oily and thickened skin. Swelling in the tissue under the skin. Most often, people with acromegaly don't have every possible body change. And because the changes come on slowly, they may take years to notice. But over time, rings may no longer fit fingers like they used to. Or shoe size may get bigger. Sometimes, people notice the changes only by comparing old photos with newer ones. Other acromegaly symptoms can include: Vision troubles, including loss of side vision. More sweating and body odor than is typical. Extreme tiredness. Headaches. Joint pain. Deeper voice. When to see a doctor Get a healthcare checkup if you think you have symptoms of acromegaly. The condition usually develops slowly. Even family members may take a long time to notice the physical changes that happen. But it's important for a healthcare professional to find the condition as early as possible. Treatment can help prevent serious health conditions that can happen along with acromegaly. Treatment Medication When surgery is not an option or does not entirely normalize hormone levels, several medications may be used: Somatostatin Analogs: Drugs like octreotide and lanreotide mimic somatostatin, inhibiting growth hormone release effectively in about 60% of patients . Growth Hormone Receptor Antagonists: Pegvisomant counters growth hormone effects, decreasing insulin-like growth factor 1 (IGF-1) levels, which are linked to many acromegaly complications. Dopamine Agonists: Bromocriptine and cabergoline can be beneficial in certain cases, particularly for tumors that secrete growth hormone. Radiation Therapy For patients not suitable for surgery or those with remaining high hormone levels post-surgery, radiation therapy offers an alternative. This prolongs the tumor's shrinkage process while helping to control growth hormone levels.
- 00. Enzyme-Linked Receptors
Enzyme-linked receptors are essential players in how our cells communicate and respond to their environment. They impact various biological processes crucial for health and disease. Understanding these receptors is not just important for scientists but also for developing new therapies that target diseases like cancer and diabetes. In this article, we will explore the various types of enzyme-linked receptors, their significance, and the advantages and drawbacks tied to them. What are Enzyme-Linked Receptors? Enzyme-linked receptors, often referred to as catalytic receptors, are specialized proteins located on cell membranes. They marry the functions of both receptors and enzymes. When a ligand, such as a hormone or growth factor, binds to these receptors, a structural change occurs that activates their enzymatic capability. These changes initiate a chain reaction of biochemical events within the cell, effectively passing along the signal from the ligand. These receptors are critical in regulating processes like cell growth, differentiation, and metabolism. Research has shown that faulty enzyme-linked receptors can lead to serious health issues, emphasizing their importance in medicine. Detailed model of an enzyme-linked receptor structure. How Many Enzyme-Linked Receptors Are There? Enzyme-linked receptors encompass a wide variety, with over 60 distinct types categorized into several families. Here are some of the most well-studied families: Receptor Tyrosine Kinases (RTKs) : These receptors are known for their ability to add phosphate groups to tyrosine residues on target proteins after a ligand binds. RTKs are key players in many signaling pathways linked to cell growth. For example, the insulin receptor, a type of RTK, plays a significant role in glucose homeostasis. Receptor Serine/Threonine Kinases : These receptors focus on phosphorylating serine and threonine residues. They are important in the TGF-β signaling pathway, which influences growth and development. For instance, the Activin receptor is a well-known serine/threonine kinase involved in early embryonic development. Guanylate Cyclase Receptors : These receptors turn GTP into cyclic GMP, a critical molecule involved in many signaling pathways. They play a vital role in regulating vascular function, as seen in the action of nitric oxide (NO) on guanylate cyclase to promote blood vessel dilation. The rich diversity of enzyme-linked receptors demonstrates their vital functions in various biological processes. Laboratory model illustrating different types of enzyme-linked receptors. Importance of Enzyme-Linked Receptors Enzyme-linked receptors have significant implications for human health. Malfunctions in these receptors can lead to various conditions, such as cancers, diabetes, and heart diseases. Here are specific reasons why they matter: 1. Signal Transduction Enzyme-linked receptors serve as the entry point for signals that travel through the cell membrane. For example, when a peptide hormone binds to an RTK, it ignites a series of actions that lead to changes within the cell, ultimately influencing key functions like metabolism and growth. 2. Cell Growth and Differentiation These receptors are vital in controlling how cells grow and differentiate. For example, if the signaling from these receptors goes awry, it may result in unchecked cell division, a typical feature of cancer. This makes them important targets for cancer therapies. Research shows that 30% of all human cancers involve changes in RTKs. 3. Therapeutic Targets Targeting enzyme-linked receptors is a common strategy in modern medicine. Treatments designed to inhibit or enhance these receptors can fight diseases effectively. For instance, the development of drugs that specifically target the HER2 receptor in breast cancer treatment has improved outcomes for a significant number of patients, reducing the risk of recurrence by approximately 30%. 4. Biomarker Potential Many enzyme-linked receptors are often found at higher levels in certain diseases. This makes them useful biomarkers in diagnostics. For example, elevated levels of the Prostate-Specific Antigen (PSA) can indicate prostate cancer, guiding timely intervention. Positive and Negative Aspects of Enzyme-Linked Receptors While enzyme-linked receptors are crucial for health, they can also have negative effects in specific situations. Beneficial Enzyme-Linked Receptors Insulin Receptor (IR) : The IR is essential for glucose metabolism. When functioning correctly, it helps cells take in glucose and maintain normal blood sugar levels. This functionality is vital for diabetes management, and drugs targeting insulin receptors can significantly improve patients' control over their conditions. Epidermal Growth Factor Receptor (EGFR) : This receptor plays a vital role in cell proliferation and survival. Many cancer therapies focus on inhibiting EGFR, with successful treatments like cetuximab used in cases of colorectal cancer. Detrimental Enzyme-Linked Receptors Mutated Receptors : Changes in certain enzyme-linked receptors can lead to serious diseases. For example, mutations in the BRAF gene produce a faulty RTK associated with an aggressive form of melanoma. Nearly 50% of melanoma patients show these mutations. Over-Expression : In some cancers, receptors like EGFR become overly expressed, leading to aggressive tumor growth. Monitoring these receptors can inform treatment decisions. For example, nearly 80% of non-small cell lung cancers exhibit EGFR overexpression, necessitating targeted therapies. Illustration of the signaling pathways involving enzyme-linked receptors. Final Thoughts Enzyme-linked receptors play a significant role in various cellular processes, impacting how cells grow, communicate, and respond to signals. The different types of these receptors showcase their complexity and importance in the biological world. Ongoing research continues to highlight their potential as targets for innovative therapies. However, both their beneficial and harmful roles in health must be understood to maximize the therapeutic opportunities while ensuring patient safety. Investigating these receptors not only deepens our understanding of biology but also opens the door to new treatments that can dramatically improve patient care.
- Endosex: Women to Mistake Cramps for Period?
Navigating bodily symptoms can be tricky, especially when it involves discomfort in the abdominal region. For many endosex women, menstrual cramps may feel similar to gastrointestinal problems, creating uncertainty about whether the issue is just a normal period or something more serious, like a bowel infection or a condition such as Inflammatory Bowel Disease (IBD) or Irritable Bowel Syndrome (IBS). In this article, we will investigate how the symptoms of bowel infections or diseases can be mistaken for menstrual pain while examining the various causes and health concerns associated with these conditions. The Anatomy of Confusion A primary reason for the overlap in symptoms is the close proximity of reproductive and digestive organs. The uterus, ovaries, and intestines occupy the same pelvic area, leading to abdominal pain being interpreted as either menstrual or digestive issues. For instance, up to 80% of women report experiencing cramping, bloating, and abdominal discomfort during their menstruation. Similarly, women diagnosed with gastrointestinal disorders, like IBD and IBS, often face cramping, bloating, gas, and diarrhea or constipation. These overlapping symptoms can easily cause misinterpretation. Understanding Menstrual Pain Menstrual pain, clinically known as dysmenorrhea, usually occurs in cycles, reflecting the monthly shedding of the uterine lining. The cramping can vary in intensity and is often accompanied by other symptoms such as headaches, nausea, and fatigue. Prostaglandins, the hormones responsible for menstrual pain, can trigger gastrointestinal reactions, resulting in bloating, diarrhea, or constipation right before and during menstruation. This hormonal interaction can lead some women to mistake gastrointestinal problems for menstrual symptoms. Common Bowel Disorders Inflammatory Bowel Disease (IBD) IBD encompasses chronic inflammatory conditions of the gastrointestinal tract, including Crohn's Disease and Ulcerative Colitis. Symptoms can be severe and may involve abdominal pain, fatigue, weight loss, diarrhea, and rectal bleeding. In fact, research indicates that up to 1.6 million Americans are living with IBD. The symptoms can be debilitating and may mimic those experienced during heavy periods. In particular, the cramping and urgent need to use the restroom may be incorrectly attributed to menstrual symptoms, especially in those with painful cycles. Irritable Bowel Syndrome (IBS) IBS affects the large intestine, leading to cramping, bloating, gas, and irregular bowel movements. Studies show that about 10-15% of adults in the U.S. have IBS. Many individuals with IBS find that their symptoms worsen during their menstrual cycles, adding to the confusion. Key Differences Between Menstrual Issues and Gastrointestinal Disorders Knowing the differences between menstrual pain and bowel disorder discomfort is essential. Timing Timing is crucial in differentiating between the two. Menstrual cramps align with the menstrual cycle calendar and often improve once menstruation ends. On the other hand, GI disorder symptoms can be persistent and lack a specific pattern, often appearing at any time. Symptom Variability The nature of the pain also varies. Menstrual cramps are typically localized in the lower abdomen, while GI disorders may cause more widespread discomfort, including sharp, localized pains, back pain, or even pain radiating to the shoulders. Accompanying Symptoms Accompanying symptoms can help separate the two issues. For instance, if diarrhea or significant changes in bowel habits occur alongside abdominal pain, it may indicate a bowel disorder rather than menstrual pain. Factors That Can Influence Confusion Several factors can affect the ability to tell apart menstrual pain and bowel symptoms. Hormonal Fluctuations Hormonal changes throughout the menstrual cycle can affect both menstrual pain and gastrointestinal symptoms. High levels of hormones like estrogen and progesterone can alter gut function, potentially increasing symptoms such as bloating during certain menstrual phases. Stress and Lifestyle Stressful schedules, dietary habits, and lifestyle choices can exacerbate both menstrual and bowel symptoms. Stress is known to worsen GI disorders and can also heighten menstrual discomfort. A poor diet may lead to issues in both menstrual and digestive health, complicating the identification of the source of discomfort. Medical History Personal and family medical history can influence symptom perception significantly. Women with a history of conditions like endometriosis or polycystic ovary syndrome (PCOS) may be more prone to significant menstrual pain, making it harder to recognize bowel discomfort. Seeking Medical Advice When experiencing symptoms that might relate to menstruation or gastrointestinal problems, obtaining medical advice is crucial. A healthcare professional can provide clarity through physical examination, medical history, and, if necessary, diagnostic tests. Diagnostic Tools Diagnostic tools such as pelvic ultrasounds for reproductive health or endoscopies for digestive concerns can clarify the situation. Blood tests can also reveal inflammatory markers linked to gastrointestinal and reproductive health, aiding in accurate diagnosis. Managing Symptoms Menstrual Pain Relief Managing menstrual pain often involves lifestyle modifications, taking over-the-counter pain relief medications such as NSAIDs, and sometimes hormonal treatments that help regulate cycles and reduce cramping. Incorporating regular exercise and relaxation practices like yoga or meditation may also provide relief. Bowel Disorder Management For bowel disorders, management frequently focuses on dietary changes. The low FODMAP diet, which eliminates certain fermentable carbohydrates, has been effective for many with IBS. Additionally, medications or probiotics may be suggested for individuals diagnosed with IBD or IBS. Final Thoughts When it comes to distinguishing between bowel infections and menstrual pain, awareness of the key symptoms and differences is vital. Understanding these distinctions and knowing when to consult a healthcare professional is essential for addressing discomfort and identifying underlying health issues. By promoting awareness about how menstrual and gastrointestinal symptoms can overlap, we empower individuals to seek the assistance they need. This, in turn, can lead to better health outcomes for women and a deeper understanding of their bodies. Encouraging open dialogue about women's health is essential. Seeking knowledge and clarity about our bodies is a crucial step toward ensuring better health for everyone.
- Hypo-spadias
Hypospadias is a common condition affecting males. It can cause discomfort and confusion, both physically and emotionally. Many people remain unaware of its implications, leading to misconceptions. A better understanding of its causes, symptoms, and treatment options can empower individuals and families to take action. What is Hypospadias? Hypospadias is a condition where the urethra, the tube that carries urine from the bladder, does not open at the tip of the penis. Instead, the opening can be located anywhere along the shaft, from just below the tip to the base, or even into the scrotum. According to the American Urological Association, this condition occurs in approximately 1 in 200 male births. The severity differs greatly and can negatively impact urinary and sexual function if not treated. Causes of Hypospadias The exact causes of hypospadias are still unclear, but several factors are thought to contribute. Genetic Factors Research suggests that genetics may significantly influence the likelihood of hypospadias. For example, studies show that if a father had hypospadias, there is a 10-14% chance that his son may have the same condition. Additionally, siblings of affected boys have a higher risk, indicating a potential hereditary link. Environmental Influences Environmental factors during pregnancy may also raise the risk of hypospadias. Pregnant women exposed to certain chemicals, such as phthalates found in various plastics, can have a higher incidence of giving birth to boys with this condition. A study from the Centers for Disease Control and Prevention noted that exposure to these endocrine-disrupting chemicals during pregnancy could contribute to hormonal imbalances affecting genital development. Hormonal Factors Hormonal levels during pregnancy, particularly androgens, are crucial for normal genital development. Research shows that inadequate testosterone exposure, particularly in the first trimester, can lead to cases of hypospadias. In fact, studies indicate that hormonal imbalances may account for over 20% of hypospadias diagnoses. Maternal Factors Certain medical conditions and behaviors during pregnancy, such as obesity, diabetes, or advanced maternal age, can increase the risk of hypospadias. For instance, mothers over the age of 35 have been shown to have higher rates of delivering babies with this condition, reinforcing the need for further research into maternal health and its impact on fetal development. Symptoms of Hypospadias Identifying hypospadias can be straightforward for medical professionals. However, parents and caregivers should recognize several key symptoms in infants and young children: Abnormal Urethral Opening The primary symptom is the abnormal location of the urethral opening, which may vary from just below the tip to the base of the penis. This is typically the first sign that prompts further medical evaluation. Curvature of the Penis Boys with hypospadias may experience a noticeable bend in the penis, particularly when erect. This curvature can create difficulties during urination or in future sexual activities, potentially impacting their quality of life. Difficulties with Urination Children with this condition may have trouble directing their urine flow. This could lead to spraying or a weak stream, which can be frustrating and even distressing for young children. Emotional and Psychological Impact As boys grow older, they may become more aware of their condition. They might face emotional challenges, particularly in school environments where body image becomes more important. Statistics indicate that children with visible differences are at a higher risk for bullying and self-esteem issues, highlighting the need for emotional support. Treatment Options for Hypospadias If diagnosed with hypospadias, several treatment options are available depending on the severity of the condition. Surgical Repair Surgery is the most common treatment and is best performed when the child is between 6 and 18 months old. The goal is to reposition the urethral opening at the tip of the penis and reconstruct the penile shaft as necessary. Types of Surgery Urethroplasty : This procedure moves the urethral opening to the correct location while reconstructing any damaged parts as needed. Scrotal or Penile Reconstruction : For severe cases, more complex techniques restore both the function and appearance of the penis. Successful outcomes vary but can exceed 90% with proper surgical techniques. Hormonal Treatments In rare, mild instances, doctors may consider hormonal treatments, although these are much less common. They depend on thorough evaluations of the individual case to determine effectiveness. Emotional Support and Counseling Recognizing the emotional challenges associated with hypospadias is essential. By providing counseling and support groups for affected children and their families, many can learn coping strategies and improve their self-esteem. Studies show that children who receive psychological support during treatment have better overall outcomes, both physically and emotionally. Moving Forward with Knowledge Hypospadias is often misunderstood, but it is a manageable condition. By understanding its causes, symptoms, and available treatment options, families can seek the necessary care promptly. Advances in surgical techniques have improved outcomes, while emotional support remains vital for those affected. Awareness and open discussions are crucial in reducing the stigma surrounding this condition. As we strive for greater knowledge and understanding, we can significantly improve the lives of those impacted by hypospadias. Ongoing research and education will pave the way for better outcomes in the future, enabling affected individuals to live their lives fully and confidently.




