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Turner's Syndrome is a rare chromosomal disorder of females (some 1 in 2,500) characterized by short stature and the lack of sexual development at puberty.
This syndrome was first described by H.H. Turner in 1938.
Causes & Development
Normally, females have two X chromosomes. In some cases of Turner's Syndrome, however, one X chromosome is missing from the cells; research studies suggest that approximately 40% of these individuals may have some Y chromosomal material in addition to the one X chromosome. In other affected females, both X chromosomes may be present, but one may have genetic defects. In still other cases, some cells may have the normal pair of X chromosomes while other cells do not. Although the exact cause of Turner's Syndrome is not known, it is believed that the disorder may result from an error during the division of a parent's sex cells.
Signs & Symptoms
Other physical features may include a webbed neck, heart defects, kidney abnormalities and/or various other malformations.
Clinical Abnormalities and Approximate Incidence:- Short Stature (100%)
- Ovarian Failure (90%)
- Puffy hands and feet (80%)
- Broad chest (80%)
- Low posterior hairline (80%)
- Unusual shape and rotation of ears (80%)
- Small lower jaw (70%)
- Inner canthal folds (70%)
- Arms turned out slightly at elbows (70%)
- Soft upturned nails (70%)
- Kidney anomalies (60%)
- Shortend 4th digits (50%)
- Webbed neck (50%)
- Pigmented nevi (small brown moles) (50%)
- Cardiac anomalies (50%)
- Hearing loss (50%)
- Narrow, high-arched palate (40%)
Occasional Abnormalities:
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GLOSSARY
Cardiac
Pertaining to the heart, also, pertaining to the stomach area adjacent to the esophagus.
Cataract (Cataracts)
A steadily worsening disease of the eye in which the lens becomes cloudy as a result of the precipitation of proteins. Most cataracts are caused by the functions of the body breaking down. Eye trauma, such as from a puncture wound, may also result in cataracts.
Diabetes Mellitus (Diabetes, Diabetic, Diabetics)
A disease with increased blood glucose levels due to lack or ineffectiveness of insulin. Diabetes is found in two forms; insulin-dependent diabetes (juvenile-onset) and non-insulin-dependent (adult-onset). Symptoms include increased thirst; increased urination; weight loss in spite of increased appetite; fatigue; nausea; vomiting; frequent infections including bladder, vaginal, and skin; blurred vision; impotence in men; bad breath; cessation of menses; diminished skin fullness. Other symptoms include bleeding gums; ear noise/buzzing; diarrhea; depression; confusion.
Glucose
A sugar that is the simplest form of carbohydrate. It is commonly referred to as blood sugar. The body breaks down carbohydrates in foods into glucose, which serves as the primary fuel for the muscles and the brain.
Hypertension
High blood pressure. Hypertension increases the risk of heart attack, stroke, and kidney failure because it adds to the workload of the heart, causing it to enlarge and, over time, to weaken; in addition, it may damage the walls of the arteries.
Idiopathic
Arising spontaneously or from an obscure or unknown cause.
Kidneys (Kidney, Renal)
Bean-shaped organs, each about the size of a fist. They are located near the middle of the back, just below the rib cage. The kidneys are sophisticated reprocessing machines, each day handling about 50 gallons of blood to sift out about half a gallon of waste products and extra water. The waste and extra water become urine, which flows to the bladder through tubes called ureters. The actual filtering occurs in tiny units inside the kidneys called nephrons. Every kidney has about a million nephrons. In a nephron, a glomerulus -- which is a tiny blood vessel, or capillary -- intertwines with a tiny urine-collecting tube called a tubule. A complicated chemical exchange takes place, as waste materials and water leave your blood and enter your urinary system. The kidneys recycle chemicals such as sodium, phosphorus, and potassium and thus regulate their levels. Renal: Pertaining to the kidneys.
Mole (Moles, Nevi, Nevus)
Known more accurately as a "nevus", a mole is a lesion of the skin that may be present from birth, but which most often appears later in life. By three years of age, 40% of children will have at least one nevus. Some varieties are hereditary and most have color. A common nevus in light-skinned people is typically small, round, tan or brown, with a smooth border, and exactly the same throughout. Other types may be very large, or have irregular borders. There are dozens of different types, with many shapes, colors and sizes. While most are benign, malignant changes can occur to turn the benign nevus into a melanoma.
Syndrome
A medical condition characterized by a collection of related symptoms (what the patient feels) and signs (what a doctor can observe or measure).
Thyroid (Thyroid Gland)
The thyroid gland is an organ with many veins, anchored around the front of the throat near the voice box. It is essential to normal body growth in infancy and childhood. It absorbs iodine from the diet and releases thyroid hormones - iodine-containing compounds that help govern the rate of the body's metabolism (its total life processes), affecting body temperature, and regulating protein, fat and carbohydrate catabolism in all cells. They keep up growth hormone release, skeletal maturation, and heart rate, force, and output. They promote central nervous system growth, stimulate the making of many enzymes, and are necessary for muscle tone and vigor. To a high degree, metabolism is regulated by the hormone thyroxine, which can be made by the thyroid if enough organic iodine is available. An enlarged thyroid gland that is not cancer is sometimes called goitre.
Ulcerative Colitis (Colitis Ulcerosa)
Ulceration of the colon and rectum, usually long-term and characterized by rectal bleeding or blood in the stool, frequent urgent diarrhea/bowel movements each day, abdominal pain.
Last updated: Jun 01, 2008
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