Hemochromatosis Glossary of Medical Terms

Abdominal: Relating to the abdomen, the belly , that part of the body that contains all of the structures between the chest and the pelvis . The abdomen is separated anatomically from the chest by the diaphragm , the powerful muscle spanning the body cavity below the lungs .
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Abdominal pain: Pain in the belly (the abdomen). Abdominal pain can come from conditions affecting a variety of organs. The abdomen is an anatomical area that is bounded by the lower margin of the ribs above, the pelvic bone (pubic ramus) below, and the flanks on each side. Although abdominal pain can arise from the tissues of the abdominal wall that surround the abdominal cavity (the skin and abdominal wall muscles), the term abdominal pain generally is used to describe pain originating from organs within the abdominal cavity (from beneath the skin and muscles). These organs include the stomach, small intestine, colon, liver, gallbladder, and pancreas.
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Abnormal: Not normal. Deviating from the usual structure, position, condition, or behavior. In referring to a growth, abnormal may mean that it is cancerous or premalignant (likely to become cancer ).
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Absorption: Uptake. In the biomedical sciences, absorption has diverse specific meanings.
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Acute: Of abrupt onset, in reference to a disease. Acute often also connotes an illness that is of short duration, rapidly progressive, and in need of urgent care.
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Acute phase reactant: See: Acute-phase protein .
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Anemia: The condition of having less than the normal number of red blood cells or less than the normal quantity of hemoglobin in the blood. The oxygen-carrying capacity of the blood is, therefore, decreased.
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Arthralgia: Pain in the joints. There are many possible causes of pain in a joint. The Greek "algos" means "pain."
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Arthritis: Inflammation of a joint. When joints are inflamed they can develop stiffness, warmth, swelling, redness and pain. There are over 100 types of arthritis . (see osteoarthritis , rheumatoid arthritis , ankylosing spondylitis , psoriatic arthritis , lupus , gout , pseudogout ).
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Autosomal: Pertaining to a chromosome that is not a sex chromosome; relating to any one of the chromosomes save the sex chromosomes.
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Autosomal dominant: A pattern of inheritance in which an affected individual has one copy of a mutant gene and one normal gene on a pair of autosomal chromosomes. (In contrast, autosomal recessive diseases require that the individual have two copies of the mutant gene.) Individuals with autosomal dominant diseases have a 50-50 chance of passing the mutant gene and therefore the disorder onto each of their children. Examples of autosomal dominant diseases include Huntington disease , neurofibromatosis , and polycystic kidney disease .
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Autosomal recessive: A genetic condition that appears only in individuals who have received two copies of an autosomal gene , one copy from each parent. The gene is on an autosome , a nonsex chromosome . The parents are carriers who have only one copy of the gene and do not exhibit the trait because the gene is recessive to its normal counterpart gene.
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Bacterial: Of or pertaining to bacteria . For example, a bacterial lung infection .
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Biopsy: The removal of a sample of tissue for purposes of diagnosis. (Many definitions of "biopsy" stipulate that the sample of tissue is removed for examination under a microscope. This may or may not be the case. The diagnosis may be achieved by other means such as by analysis of chromosomes or genes.)
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Cancer: An abnormal growth of cells which tend to proliferate in an uncontrolled way and, in some cases, to metastasize (spread).
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Cell: The basic structural and functional unit in people and all living things. Each cell is a small container of chemicals and water wrapped in a membrane .
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Chromosome: A visible carrier of the genetic information.
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Chromosomes: The microscopically visible carriers of the genetic material. They are composed of deoxyribonucleic acid (DNA) and proteins and, under a microscope, look like little rods.
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Cirrhosis: An abnormal liver condition characterized by irreversible scarring of the liver. Alcohol and viral hepatitis B and C are among the many causes of cirrhosis. Cirrhosis can cause yellowing of the skin ( jaundice ), itching , and fatigue. Diagnosis of cirrhosis can be suggested by physical examination and blood tests, and can be confirmed by liver biopsy in some patients. Complications of cirrhosis include mental confusion, coma , fluid accumulation ( ascites ), internal bleeding , and kidney failure. Treatment of cirrhosis is designed to limit any further damage to the liver as well as complications. Liver transplantation is becoming an important option for patients with advanced cirrhosis.
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Contrast: Short for "contrast media." Contrast media are X-ray dyes used to provide contrast, for example, between blood vessels and other tissue.
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Diabetes: Refers to diabetes mellitus or, less often, to diabetes insipidus . Diabetes mellitus and diabetes insipidus share the name "diabetes" because they are both conditions characterized by excessive urination (polyuria).
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Diabetes mellitus: Better known just as " diabetes " -- a chronic disease associated with abnormally high levels of the sugar glucose in the blood. Diabetes is due to one of two mechanisms:
(1) Inadequate production of insulin (which is made by the pancreas and lowers blood glucose) or
(2) Inadequate sensitivity of cells to the action of insulin.
The two main types of diabetes correspond to these two mechanisms and are called insulin dependent (type 1) and non-insulin dependent (type 2) diabetes. In type 1 diabetes there is no insulin or not enough of it. In type 2 diabetes, there is generally enough insulin but the cells upon it should act are not normally sensitive to its action.
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Diagnosis: 1 The nature of a disease ; the identification of an illness. 2 A conclusion or decision reached by diagnosis. The diagnosis is rabies . 3 The identification of any problem. The diagnosis was a plugged IV.
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DNA: Deoxyribonucleic acid. One of two types of molecules that encode genetic information. (The other is RNA . In humans DNA is the genetic material; RNA is transcribed from it. In some other organisms, RNA is the genetic material and, in reverse fashion, the DNA is transcribed from it.)
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Dysfunction: Difficult function or abnormal function.
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Enzymes: Proteins that act as a catalysts in mediating and speeding a specific chemical reaction .
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Excess iron: Iron overload can damage the heart, liver, gonads and other organs.
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Family history: The family structure and relationships within the family, including information about diseases in family members.
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Ferritin: The major iron storage protein . The blood level of ferritin serves as an indicator of the amount of iron stored in the body.
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Gastroenterology: The medical specialty devoted to the study, diagnosis and treatment of disorders of the digestive system . These disorders may affect the esophagus (swallowing tube), stomach , small intestine , large intestine ( colon ), rectum , liver , gallbladder , or pancreas .
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Gene: The basic biological unit of heredity . A segment of deoxyribonucleic acid (DNA) needed to contribute to a function.
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Genes: The basic biological units of heredity . Segments of deoxyribonucleic acid (DNA) needed to contribute to a function.
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Genetic: Having to do with genes and genetic information.
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Genetic screening: Testing a population to identify individuals at risk for a genetic disease or for transmitting it. Newborns may be screened for PKU ( phenylketonuria ), Jews for the gene for Tay-Sachs disease, Blacks for the sickle cell gene, etc.
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Genetic testing: Tests done for clinical genetic purposes. Genetic tests may be done for diverse purposes pertaining to clinical genetics, including the diagnosis of genetic disease in children and adults; the identification of future disease risks; the prediction of drug responses; and the detection of risks of disease to future children.
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Gland: 1. A group of cells that secrete a substance for use in the body. For example, the thyroid gland. 2. A group of cells that removes materials from the circulation. For example, a lymph gland.
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Heart: The muscle that pumps blood received from veins into arteries throughout the body. It is positioned in the chest behind the sternum (breastbone; in front of the trachea, esophagus, and aorta; and above the diaphragm muscle that separates the chest and abdominal cavities. The normal heart is about the size of a closed fist, and weighs about 10.5 ounces. It is cone-shaped, with the point of the cone pointing down to the left. Two-thirds of the heart lies in the left side of the chest with the balance in the right chest.
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Heart failure : Inability of the heart to keep up with the demands on it and, specifically, failure of the heart to pump blood with normal efficiency. When this occurs, the heart is unable to provide adequate blood flow to other organs such as the brain, liver and kidneys. Heart failure may be due to failure of the right or left or both ventricles. The signs and symptoms depend upon which side of the heart is failing. They can include shortness of breath (dyspnea), asthma due to the heart (cardiac asthma), pooling of blood (stasis) in the general body (systemic) circulation or in the liver's (portal) circulation, swelling ( edema ), blueness or duskiness (cyanosis), and enlargement (hypertrophy) of the heart.
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Hemochromatosis: Hemochromatosis (iron overload) is an inherited disorder in how the body absorbs and stores iron. The excess iron gives the skin a bronze color and damages the liver and other organs. Diabetes is also a part of the syndrome due to damage to the pancreas.
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Hepatic: Having to do with the liver. Pronounced hi-'pa-tik. From the Latin hepaticus derived from the Greek hepar meaning (not too surprisingly) the liver.
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Heterozygous: Possessing two different forms of a particular gene , one inherited from each parent. A person who is heterozygous is called a heterozygote or a gene carrier.
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Homozygote: A person who has two identical forms of a particular gene, one inherited from each parent.
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Hypothyroid: Deficiency of thyroid hormone which is normally made by the thyroid gland which is located in the front of the neck:

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Impotence : A common problem among men characterized by the consistent inability to sustain an erection sufficient for sexual intercourse or the inability to achieve ejaculation , or both. Impotence can vary. It can involve a total inability to achieve an erection or ejaculation, an inconsistent ability to do so, or a tendency to sustain only very brief erections.
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Infection: The growth of a parasitic organism within the body. (A parasitic organism is one that lives on or in another organism and draws its nourishment therefrom.) A person with an infection has another organism (a "germ") growing within him, drawing its nourishment from the person.
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Inflammation: A basic way in which the body reacts to infection , irritation or other injury, the key feature being redness, warmth, swelling and pain . Inflammation is now recognized as a type of nonspecific immune response .
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Intern: In medicine, a doctor who has completed medical school and is engaged in a year of additional training at a hospital before residency. An intern may, for example, be in pediatrics or medicine (internal medicine). The internship year is often quite rigorous.
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Internal medicine: A medical specialty dedicated to the diagnosis and medical treatment of adults. A physician who specializes in internal medicine is referred to as an internist. A minimum of seven years of medical school and postgraduate training are focused on learning the prevention, diagnosis, and treatment of diseases of adults. Subspecialties of internal medicine include allergy and immunology, cardiology (heart), endocrinology (hormone disorders), hematology (blood disorders), infectious diseases, gastroenterology (diseases of the gut), nephrology (kidney diseases), oncology (cancer), pulmonology (lung disorders), and rheumatology ( arthritis and musculoskeletal disorders).
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Iron: An essential mineral. Iron is necessary for the transport of oxygen (via hemoglobin in red blood cells) and for oxidation by cells (via cytochrome). Deficiency of iron is a common cause of anemia . Food sources of iron include meat, poultry, eggs, vegetables and cereals (especially those fortified with iron). According to the National Academy of Sciences, the Recommended Dietary Allowances of iron are 15 milligrams per day for women and 10 milligrams per day for men. Iron overload can damage the heart, liver, gonads and other organs. Iron overload is a particular risk in people who may have certain genetic conditions ( hemochromatosis ) sometimes without knowing it and also in people receiving recurrent blood transfusions. Iron supplements meant for adults (such as pregnant women) are a major cause of poisoning in children.
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Iron deficiency anemia : The most common known form of nutritional disorder in the world, iron deficiency results in anemia because iron is necessary to make hemoglobin, key molecule in red blood cells responsible for the transport of oxygen. In iron deficiency anemia, the red cells appear abnormal and are unusually small (microcytic) and pale (hypochromic). The pallor of the red cells reflects their low hemoglobin content.
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Iron overload: Iron overload can damage the heart, liver, gonads and other organs.
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Joint: A joint is the area where two bones are attached for the purpose of motion of body parts. A joint is usually formed of fibrous connective tissue and cartilage. An articulation or an arthrosis is the same as a joint.
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Lancet: A small pointed knife; a surgical instrument with a short, wide, sharp-pointed, two-edged blade; a little knife with a small point. Lancets are used today to prick the skin (a finger, foot, ear lobe, etc.) to obtain a small quantity of capillary blood for testing.
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Lassitude: Weakness, weariness, listlessness, exhaustion, lethargy . For example, the patient complained of lassitude. Borrowed from French, from Latin lassitudo, from lassus meaning weary.
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Libido: 1. Sexual drive. 2. In psychoanalysis, the psychic energy from all instinctive biological drives.
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Liter: A metric measure of capacity that, by definition, is equal to the volume of a kilogram of water at 4 degrees centigrade and at standard atmospheric pressure of 760 millimeters of mercury.

• Metric equivalents -- There are 1000 cubic centimeters or 1 cubic decimeter in 1 liter.
• U.S. equivalent -- A liter is a little more than a quart (1.057 U.S. liquid quarts).

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Liver: An organ in the upper abdomen that aids in digestion and removes waste products and worn-out cells from the blood. The liver is the largest solid organ in the body. The liver weighs about three and a half pounds (1.6 kilograms). It measures about 8 inches (20 cm) horizontally (across) and 6.5 inches (17 cm) vertically (down) and is 4.5 inches (12 cm) thick.

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Liver disease: Liver disease refers to any disorder of the liver. The liver is a large organ in the upper right abdomen that aids in digestion and removes waste products from the blood.
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Medical history: 1. In clinical medicine, the patient's past and present which may contain clues bearing on their health past, present, and future. The medical history, being an account of all medical events and problems a person has experienced, including psychiatric illness, is especially helpful when a differential diagnosis is needed.
2. The history of medicine.
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Menstruation: The periodic blood that flows as a discharge from the uterus. Also called menorrhea, the time during which menstruation occurs is referred to as menses. The menses occurs at approximately 4 week intervals to compose the menstrual cycle.
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Milligram: A unit of measurement of mass in the metric system equal to a thousandth of a gram. A gram is equal to the mass of one milliliter, one thousandth of a liter, of water at 4 degrees C.
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MPH: Master of Public Health (a master's degree in this field of medicine).
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Mutation: A permanent change, a structural alteration, in the DNA or RNA . In humans and many other organisms, mutations occur in DNA. However, in retroviruses like HIV , mutations occur in RNA which is the genetic material of retroviruses.
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Normal range: By convention, the normal range for whatever (a particular test, condition, symptom, behavior, etc.) is set to cover ninety-five percent (95%) of all values from the general population. Five percent (5%) of results consequently fall outside the normal range. Values that prove normal can therefore sometimes be outside the normal range.
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Offspring: The offspring are strictly speaking the progeny, or young, born to a person.
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Organ: A relatively independent part of the body that carries out one or more special functions. The organs of the human body include the eye , ear , heart , lungs , and liver .
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Oxygen: A colorless, odorless and tasteless gas that makes up about 20% of the air we breathe (and at least half the weight of the entire solid crust of the earth) and which combines with most of the other elements to form oxides. Oxygen is essential to human, animal and plant life.
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Pain: An unpleasant sensation that can range from mild, localized discomfort to agony. Pain has both physical and emotional components. The physical part of pain results from nerve stimulation. Pain may be contained to a discrete area, as in an injury, or it can be more diffuse, as in disorders like fibromyalgia . Pain is mediated by specific nerve fibers that carry the pain impulses to the brain where their conscious appreciation may be modified by many factors.
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Pancreas: A fish-shaped spongy grayish-pink organ about 6 inches (15 cm) long that stretches across the back of the abdomen, behind the stomach. The head of the pancreas is on the right side of the abdomen and is connected to the duodenum (the first section of the small intestine). The narrow end of the pancreas, called the tail, extends to the left side of the body.

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Phlebotomy: Obtaining blood from a vein. In the old days, this was done by incising (cutting) a vein and just letting the blood flow into a container. Today phlebotomy is done more neatly by puncturing a vein with a needle.
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Pituitary: 1. As an adjective, pertaining to the pituitary gland or its hormonal secretions. 2. As a noun, the pituitary gland itself.
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Prevalence: The proportion of individuals in a population having a disease. Prevalence is a statistical concept referring to the number of cases of a disease that are present in a particular population at a given time.
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Protein: A large molecule composed of one or more chains of amino acids in a specific order determined by the base sequence of nucleotides in the DNA coding for the protein.
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Recessive: A condition that appears only in individuals who have received two copies of a mutant gene, one copy from each parent. The individuals with a double dose of the mutated gene are called homozygotes. Their parents, each with a single dose of the mutated gene, appear normal and are called heterozygotes, or gene carriers.
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Serum: The clear liquid that can be separated from clotted blood. Serum differs from plasma, the liquid portion of normal unclotted blood containing the red and white cells and platelets. It is the clot that makes the difference between serum and plasma.
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Skin color: The color of skin which is complexly determined. Skin color depends on many factors including reddening caused by inflammation , the hemoglobin level in the blood, and the darkening caused by increased deposition of the pigment melanin . Melanin itself is a polymer that comes in two types -- a red-yellow form known as pheomelanin and a black-brown form known as eumelanin.
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Standard of care: 1. A diagnostic and treatment process that a clinician should follow for a certain type of patient, illness, or clinical circumstance. Adjuvant chemotherapy for lung cancer is "a new standard of care, but not necessarily the only standard of care." (New England Journal of Medicine, 2004)
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Sweat: A colorless transparent acidic fluid with a distinctive odor secreted by the small tubular sudoriferous (sweat) glands situated within the skin and under it in the subcutaneous tissue . The sweat glands discharge their fluid through tiny openings in the surface of the skin.
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Symptomatic: 1 With symptoms, as a symptomatic infection . 2 Characteristic, as behavior symptomatic of Huntington disease . 3 Directed at the symptoms, as symptomatic treatment .
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Testicles: The testicles (also called testes or gonads) are the male sex glands. They are located behind the penis in a pouch of skin called the scrotum. The testicles produce and store sperm, and they are also the body's main source of male hormones (testosterone). These hormones control the development of the reproductive organs and other male characteristics, such as body and facial hair, low voice, and wide shoulders.

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Testosterone: A "male hormone" -- a sex hormone produced by the testes that encourages the development of male sexual characteristics, stimulates the activity of the male secondary sex characteristics, and prevents changes in them following castration. Chemically, testosterone is 17-beta-hydroxy-4-androstene-3-one.
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Therapy: The treatment of disease .
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Thyroid: 1. The thyroid gland . Also, pertaining to the thyroid gland. 2. A preparation of the thyroid gland used to treat hypothyroidism . 3. Shaped like a shield. (The thyroid gland was so-named by Thomas Wharton in 1656 because it was shaped like an ancient Greek shield.)
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Thyroid gland: A gland that makes and stores hormones that help regulate the heart rate, blood pressure, body temperature, and the rate at which food is converted into energy. Thyroid hormones are essential for the function of every cell in the body. They help regulate growth and the rate of chemical reactions ( metabolism ) in the body. Thyroid hormones also help children grow and develop.
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Transferrin: A plasma protein that transports iron through the blood to the liver, spleen and bone marrow .
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Vein: A blood vessel that carries blood low in oxygen content from the body back to the heart. The deoxygenated form of hemoglobin (deoxyhemoglobin) in venous blood makes it appear dark. Veins are part of the afferent wing of the circulatory system which returns blood to the heart.
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Vitamin C: An essential nutrient found mainly in fruits and vegetables. The body requires vitamin C to form and maintain bones, blood vessels, and skin.
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Weight loss: Weight loss is a decrease in body weight resulting from either voluntary ( diet , exercise ) or involuntary (illness) circumstances. Most instances of weight loss arise due to the loss of body fat, but in cases of extreme or severe weight loss, protein and other substances in the body can also be depleted. Examples of involuntary weight loss include the weight loss associated with cancer , malabsorption (such as from chronic diarrheal illnesses ), and chronic inflammation (such as with rheumatoid arthritis ).
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