Metabolic Disorders

The endocrine system is an electrochemical connection between the hypothalamus of the brain and the organs of the body that control metabolism, growth and development, and reproduction. It is made up of organs called glands, which secrete chemicals called hormones. Hormones are messengers that travel throughout the body via the bloodstream, affecting other processes and pathways Typical glands of the endocrine system include the pituitary, thyroid, and adrenal glands. The metabolic pathway is influenced by the endocrine system. It involves the building and breaking down many of the molecules that the body consumes and produces. The endocrine system is involved in nearly every internal process, from digestion to growth to the balance of fluids and nutrients in the body.

Acromegaly

Acromegaly is a hormonal disorder that results from too much growth hormone (GH) in the body. The pituitary, a small gland in the brain, makes GH. In acromegaly, the pituitary produces excessive amounts of GH. Usually the excess GH comes from benign, or noncancerous, tumors on the pituitary. These benign tumors are called adenomas. Acromegaly is most often diagnosed in middle-aged adults, although symptoms can appear at any age. If not treated, acromegaly can result in serious illness and premature death. About three to four out of every million people develop acromegaly each year.

Addison's disease

Addison's disease is an endocrine or hormonal disorder that occurs in all age groups and afflicts men and women equally. Addison's disease occurs when the adrenal glands do not produce enough of the hormone cortisol and, in some cases, the hormone aldosterone. The disease is also called adrenal insufficiency, or hypocortisolism. Addison's disease affects about 1 in 100,000 people.

Appetite

In order for the body to function, it needs calories and nutrients obtained from the food that people eat. For many, this is not a problem. The body gives signals such as hunger pangs to let one know that it is time to eat. An appetite is regulated closely by the brain, digestive tract and adipose (fat) tissue. Many disorders, both biological and psychological, exist in which appetite regulation is abnormal. This can lead to diseases such as anorexia and bulimia where too little food intake occurs and obesity where too much food is consumed. Many therapies exist to help the body regulate and control food intake.

Cushing's Disease

Normally, cortisol is released from the adrenal gland in response to ACTH being released from the pituitary gland. Both Cushing's syndrome and Cushing's disease are characterized by elevated levels of cortisol in the blood but the cause of elevated cortisol differs between the two. Cushing's disease specifically refers to a tumor in the pituitary gland that stimulates excessive release of cortisol from the adrenal gland by releasing large amounts of ACTH. In Cushing's disease, ACTH levels do not respond to negative feedback from the high levels of cortisol.

Diabetes

Diabetes is a group of diseases marked by high levels of blood glucose, also called blood sugar, resulting from defects in insulin production, insulin action, or both. Diabetes can lead to serious complications and premature death, but people with diabetes can take steps to control the disease and lower the risk of complications.

Normally, blood glucose levels are tightly controlled by insulin, a hormone produced by the pancreas. Insulin lowers the blood glucose level. When the blood glucose elevates (for example, after eating food), insulin is released from the pancreas to normalize the glucose level. In patients with diabetes, the absence or insufficient production of insulin causes hyperglycemia. Diabetes is a chronic medical condition, meaning that although it can be controlled, it lasts a lifetime. Over time, diabetes can lead to blindness, kidney failure and nerve damage. These types of damage are the result of damage to small vessels.

Each kidney is made up of more than a million nephrons and each has a tuft of blood vessels attached to it called a glomerulus. The glomerulus filters the blood and forms urine. In diabetic nephropathy’s early stages, the glomerulus thickens and is rendered dysfunctional, allowing more albumin (protein) than normal to pass into the urine. As the disease progresses, more glomeruli are destroyed and protein continues to pass into the urine. Diabetic nephropathy is the most common cause of chronic kidney failure and end stage kidney disease in the U.S. According to the National Institutes of Health, 23.6 million people—7.8 percent of the population—have diabetes.

Growth Hormone Deficiency

Growth Hormone is manufactured in the pituitary gland. If it is missing or reduced in quantity during infancy or childhood, it results in growth retardation, short stature and other maturation delays. Growth Hormone Deficiency (GHD) causes an absence or delay of lengthening and widening of the skeletal bones inappropriate to the chronological age of the child. A sufficient quantity of growth hormone is required during childhood to maintain growth and normalize sexual maturity.

Homocystinuria

Homocystinuria is a rare metabolic condition characterized by an excess of the compound homocystine in the urine. It is an inherited autosomal recessive trait, which means a child needs to inherit the defective gene from both parents to be affected. The condition may result from deficiency of any of several enzymes involved in the conversion of the essential amino acid methionine to another amino acid cysteine, or less commonly, the impaired conversion of the compound homocysteine to methionine. Enzymes are proteins that accelerate the rate of chemical reactions in the body. Certain amino acids, which are the chemical building blocks of proteins, are essential for proper growth and development. Due to deficiency of the CBS enzyme, infants with Homocystinuria may fail to grow and gain weight at the expected rate and have developmental delays.

Hypercalcemia

A medical condition in which abnormally high concentrations of calcium compounds are found in the bloodstream. It can be an asymptomatic laboratory finding, but because an elevated calcium level is often indicative of other diseases, a diagnosis should be undertaken if it persists. It can be due to excessive skeletal calcium release, increased intestinal calcium absorption, or decreased renal calcium excretion.

Hyperparathyroidism

The presence of excess parathyroid hormone in the body results in the disturbance of calcium metabolism with an increase in serum calcium and decrease in inorganic phosphorus, a loss of calcium from bone and renal damage with frequent kidney-stone formation.

Hypocalcemia

An abnormally low calcium concentration can result in muscle cramps, abdominal cramps, spasms and hyperactive deep tendon reflexes. It is a type of electrolyte disturbance. In the blood, about half of all calcium is bound to proteins such as serum albumin, but it is the unbound, or ionized, calcium that the body regulates. If a person has abnormal levels of blood proteins, then the plasma calcium may be inaccurate.

Hypoglycemia

Hypoglycemia is low blood sugar. It occurs when the level of sugar, or glucose, in the blood drops too low to fuel the body. Hypoglycemia is not a disease but a condition that results from a variety of causes. Hypoglycemia can occur in people with diabetes who take certain medications to keep their blood glucose levels in control. Usually hypoglycemia is mild and can easily be treated by eating or drinking something with carbohydrate. But left untreated, hypoglycemia can lead to loss of consciousness. Although hypoglycemia can happen suddenly, it can usually be treated quickly, bringing your blood glucose level back to normal.

Hypogonadism

Hypogonadism is when the sex glands produce little or no hormones. In men, these glands (gonads) are the testes; in women, they are the ovaries. The cause of hypogonadism may be "primary" or "central." In primary hypogonadism, the ovaries or testes themselves do not function properly. Many forms of hypogonadism are potentially treatable and have a good prognosis.

Hypothyroidism

Hypothyroidism is caused by insufficient production of thyroid hormone by the thyroid gland. The ability of Hypothyroidism to mimic a number of medical conditions originates in the vast functions of the thyroid hormones, which are reduced or absent in this case. The functions of thyroid hormones include modulation of carbohydrate, protein and fat metabolism, vitamin utilization, mitochondrial function, digestive process, muscle and nerve activity, blood flow, oxygen utilization, hormone secretion and sexual and reproductive health. About 3 percent of the general population is hypothyroid

Idiopathic Short Stature

Idiopathic Short Stature (ISS) refers to the condition of someone being shorter in height than those around them. Height, however, is a relative condition and there are no established definitions as to what is a “normal” height. There have been several controversies over this issue regarding quality of life due to height and insurance reimbursement for hormone therapies and treatments. Researchers have described ISS as the shortest 1.2 percent of the population.

Involuntary Weight Loss

Involuntary weight loss is defined as a decrease of at least five percent of body weight in a six-month period that isn't due to dieting, diuretic use or medical diseases known to affect weight.

Lipodystrophy

A medical condition characterized by abnormal or degenerative conditions of the body's adipose tissue. A more specific term, lipoatrophy is used when describing the loss of fat from one area.

Secondary Carnitine Deficiency

Carnitine deficiency is a condition that prevents the body from using fats for energy, particularly during periods without food. Carnitine, a natural substance acquired mostly through diet, is used by cells to process fats and produce energy. People with primary carnitine deficiency have defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body.

Testosterone Replacement Therapy

Testosterone is a steroid hormone primarily secreted in the testes of males and the ovaries of females. The adrenal glands also secrete small amounts of the hormone. It is the principal male sex hormone and an anabolic steroid which plays major roles in health and well-being. Libido, energy levels, immune function, protection against osteoporosis and puberty in males are largely due to increased levels of testosterone in the body. In some individuals, however, the production of testosterone is insufficient for the healthy growth and development of the body. In these cases, hormone replacement therapy is used to maintain normal levels of testosterone in the body.

Urea Cycle Disorder

An urea cycle disorder or urea cycle defect is a genetic disorder caused by a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is removed from the blood and converted to urea. Normally, the urea is transferred into the urine and removed from the body. In urea cycle disorders, the nitrogen accumulates in the form of ammonia, a highly toxic substance and is not removed from the body. Ammonia then reaches the brain through the blood, where it causes irreversible brain damage and/or death.

Vitamin Deficiency

The human body needs vitamins — nutrients found in most foods — for many reasons, including producing healthy red blood cells. If the body is deficient in certain key vitamins, it can develop a type of anemia — a condition in which the blood is low on healthy red blood cells — called vitamin deficiency anemia.

Red blood cells carry oxygen from the lungs to all parts of the body. Without enough healthy red blood cells, the body cannot get the oxygen it needs to feel energized. To produce red blood cells, the body needs iron and certain vitamins along with adequate protein and calorie intake. Vitamin deficiency anemia can also lead to other health problems. Fortunately, vitamin deficiency anemia can be corrected with supplements and dietary changes.