Glossary

Adrenal Glands are a pair of walnut-sized organs found above the kidneys that make stress hormones and hormones that help increase the amount of sugar (glucose) in the blood.  The adrenal glands are part of the endocrine system.

Adrenalectomy is a surgery to remove one or both adrenal glands.

Autosomal Dominant Inheritance is when the child of a parent with a genetic condition has a 50% or 1 in 2 chance of inheriting that condition from the affected parent. This happens when a parent who has MEN2b passes it to his or her child.

Calcitonin (abbr. Ct) is a hormone made by the C-cells of the thyroid gland. It decreases bone breakdown. Calcitonin is the blood test to check for MTC (Medullary Thyroid Carcinoma) which produces calcitonin.

Catecholamine is a class of stress hormones, including adrenaline, made by the adrenal glands.

Chemotherapy is a cancer treatment using chemicals (oral or intravenous) which interfere with cancer cell division.

Chromosomes are cell structures that contain genes which store and transmit genetic information.

Codons are sections of genes. Mutations or changes may occur within them to cause disease.

Computerized Axial Tomography (abbr. CT scan) is a type of imaging that uses X-ray techniques to create detailed images of the body. It uses a computer to create cross-sectional images of the bones, blood vessels, and soft tissues inside the body.

Cortisol is a hormone made by the adrenal cortex (the outer layer of the adrenal gland). It helps the body regulate glucose (a sugar), protein, and fats especially in response to stress. Cortisol made in the laboratory is called hydrocortisone. It is used to treat many conditions, including inflammation, allergies, and some cancers.

DNA stands for deoxyribonucleic acid. It is the genetic information inside the cells of the body that helps make people who they are. Think of DNA as instructions for how to make the body, like the blueprints for a house.

De Novo is a change (such as a change in the genes) which has not been passed down by a parent. This happens when a person develops MEN2b although neither parent has MEN2b.

Endocrine Glands are the organs in the body that make and release hormones. Hormones are chemical messages which affect the activity of other organs.  The endocrine system includes the hypothalamus, pineal gland, pituitary gland, thyroid gland, parathyroid glands, thymus, adrenal glands, and pancreas. It also includes the testes in males and the ovaries and placenta (during pregnancy) in females.

Endocrinology is the study of hormones and endocrine glands and organs.

Failure to Thrive (abbr. FTT) is a term that is traditionally used for children who have failed to develop and grow normally. In general practice, FTT is commonly used for any child who fails to gain weight or height according to standard medical growth charts.

Fine Needle Aspiration (abbr. FNA) uses a needle and syringe to get a tissue or fluid sample from a suspicious mass in your body. Healthcare providers use it to help diagnose abnormal tissue in several areas of your body, such as your breasts, thyroid, and lymph nodes.

Ganglioneuromas are benign growths (not cancer) consisting of nerve tissue. These frequently arise in the intestines in MEN2b patients and may cause abnormal function of the intestines, such as a change in bowel habit. They may also occur in the tongue, lips and eyelids causing bumpy appearance.

Gastrointestinal (abbr. GI) refers collectively to the organs of the body that play a part in food digestion. The gastrointestinal tract, also called the digestive tract or GI tract, includes the mouth, esophagus, stomach, small intestine, large intestine (colon), rectum, and anus.

Genes are structures made of DNA which give instructions for production of proteins. A change in normal gene structure results in a mutation (e.g., RET gene mutation in MEN2b).

Hormones are chemical messengers in the body which travel through the blood to direct the function of many different organs.

Hypercalcemia is a state of having too much calcium in the blood.

Hypocalcemia is a state of having too little calcium in the blood.

Lymph nodes are small bean-shaped structures that are part of the body's immune system. Lymph nodes filter substances that travel through the lymphatic fluid, and they contain lymphocytes (white blood cells) that help the body fight infection and disease.

Magnetic resonance imaging (abbr. MRI) is a medical imaging technique that uses a magnetic field and computer-generated radio waves to create detailed images of the organs and tissues in your body.

Marfanoid Habitus is an unusual muscle and bone presentation which consists of abnormally long and more flexible limbs, fingers, and toes and taller than average height.

Medullary Thyroid Cancer (abbr. MTC) is a neuroendocrine tumor that accounts for approximately 1% and 5% of all thyroid cancer cases. These tumors originate from the parafollicular C cells of the thyroid gland, which are responsible for producing calcitonin.

Megacolon is an abnormal enlargement of the diameter of the large bowel which can affect its function.

Meta-iodobenzylguanidine (abbr. MIBG) is a radioactive isotope scan. It uses a radioactive substance called a tracer injected into the body. This can find or confirm the presence of pheochromocytoma and neuroblastoma.

Metanephrines are made when your body breaks down hormones called catecholamines (adrenaline and norepinephrine). These hormones are made by the adrenal glands. Catecholamines help your body respond to stress. They are sometimes called "fight or flight" hormones. Metanephrines are tested in urine and blood to help diagnose pheochromocytomas.

Motility GI Specialist is a subspecialty within gastroenterology that focuses on the functional movement and regulation of the muscles and nerves involved in the digestive process. This field is concerned with the normal and abnormal movements of the gastrointestinal tract, which are essential for proper digestion and absorption of nutrients.

Mucosal Neuroma is a small benign growth of nerve tissue (ganglioneuroma) which can occur on the lips, in the mouth, or on the tongue in MEN2b.

Multiple Endocrine Neoplasia Type 2b (abbr. MEN2b) is a syndrome, also known as MEN3, which includes medullary thyroid carcinoma (MTC), pheochromocytoma (adrenal tumors which overproduce adrenaline), marfanoid habitus and abnormal bowel habit.

Neoplasia is the uncontrolled, abnormal growth of cells or tissues in the body, and the abnormal growth itself is called a neoplasm or tumor.

Neuroendocrine tumors are cancers that start in neuroendocrine cells. Neuroendocrine cells have traits like nerve cells, which send and receive signals from the brain, and endocrine cells, which make hormones that regulate various body functions. Neuroendocrine tumors are rare.

Ophthalmology is the branch of medicine that deals with the diagnosis, treatment, and surgery of eye diseases and disorders.

Osteoporosis is a condition in which the bones break more easily than normal.

Pancreatitis is inflammation of the pancreas. This may happen when digestive juices or enzymes produced by the pancreas attack the pancreas itself. The pancreas lies behind the stomach on the left side of the abdomen. It is close to the first part of the small intestine (the duodenum).

Parathyroid Glands are four small organs found in the neck behind the thyroid, that make parathyroid hormone (PTH).  The parathyroid hormone made by these glands increases the calcium level in the blood. The parathyroid glands are a part of the endocrine system. Excessive parathyroid function (hyperparathyroidism) results in abnormally high calcium levels in the blood and can cause kidney stones and abnormal kidney function.

Parathyroidectomy is the surgery to remove one or more of the parathyroid glands in a patient who has hyperparathyroidism.

Pheochromocytoma (abbr. PHEO) is a growth in the inner part of an adrenal gland which makes greater than normal levels of stress hormones, such as adrenaline.

Preimplantation Genetic Diagnosis (abbr. PGD) is part of the screening of embryos to detect genetic disorders prior to embryo transfer using IVF.

Prenatal Diagnosis (abbr. PND) is the testing of a baby for genetic disorders before it is born.

Radiotherapy is a form of cancer treatment that uses X-ray radiation to destroy cancer cells.

Rearranged during Transfection (abbr. RET) is the name of a gene that contains a change that causes MEN2a, MEN2b, and FMTC (familial medullary thyroid cancer).

Thyroid Gland is a butterfly shaped organ found in the neck. It is a vital endocrine (hormone-producing) gland. It plays a major role in metabolism, growth, and development of the human body. It helps to regulate many body functions through the release of thyroid hormones into the bloodstream.

Thyroidectomy is the removal of the thyroid by surgery.

Ulcer is a painful sore on or inside of the body.

Ultrasound is an imaging test that uses sound waves to make pictures of organs, tissues, and other structures inside your body. It allows your health care provider to see into your body without surgery or use of radiation. Ultrasound is also called ultrasonography or sonography. Ultrasound images may be called sonograms.

Urology is the medical and surgical discipline that provides adult and pediatric care for individuals with genitourinary tract and adrenal conditions.