The survival rate of people with Turner syndrome is typically good. Life expectancy is slightly shorter than average but can be improved by treating underlying chronic illnesses, such as obesity and hypertension. Heart disease is an important cause of death in these individuals. Regular monitoring has shown considerable improvement in the quality and length of life. Turner syndrome is not the reason for mental retardation, and women with Turner syndrome may be gainfully employed. Most individuals are shorter than average, even after undergoing treatment with growth therapy. Women with Turner syndrome are mostly infertile, but pregnancy with donor embryos is possible.
What is Turner syndrome?
Turner’s syndrome is a chromosomal disorder that affects females. The disorder is characterized by the partial or complete loss of one of the second sex chromosomes (XX). The symptoms of Turner syndrome vary from women to women. Women with Turner syndrome can develop a wide variety of symptoms that affect various organs. Most women with Turner syndrome have short stature and are infertile. They may have some developmental delays, learning disabilities, and behavioral problems.
What are the signs and symptoms of Turner syndrome?
The symptoms and its intensity are quite variable from one person to another. Many symptoms develop slowly over time and can be subtle. Girls with Turner syndrome may have swollen hands and feet at birth due to a condition known as lymphedema. The symptoms of Turner syndrome include:
- Short stature that is evident by the age of 5
- Middle ear infections in early childhood and subsequent hearing loss
- Developmental delays
- Delayed puberty
- Wide, webbed neck
- Low or indistinct hairline in the back of the head
- Broad chest and widely spaced nipples
- Arms that turn out slightly at the elbow
- Heart murmur
- Scoliosis (curving of the spine)
- Kidney problems
- Underactive thyroid gland
- Osteoporosis (thinning of bone)
- Increased risk to develop diabetes
- Early menopause
- Delayed bone maturation
- High liver enzymes
- Fatty infiltration of the liver
- High blood pressure
- Retrognathia (a receding chin)
- Alopecia (hair loss)
- Ptosis (drooping eyelid)
- Vitiligo (blotchy loss of skin color)
- Heart attack
- Elevated lipids in the blood
- Atrial septal defect (opening in the wall separating the top two chambers of the heart)
- Abnormal fingernails
- Thick skin folds of the neck
What causes Turner syndrome?
Normally, females have two full X chromosomes in each of her cells whereas women with Turner syndrome have one normal X chromosome and one missing X chromosome in either all cells of the body or some cells of the body. The missing genetic material affects development before and after birth. Depending on the specific genes that are missing, the features of Turner syndrome may or may not be present. Turner syndrome is not inherited and occurs due to a random abnormality that happens during the formation of an egg or sperm cell in a parent (before conception).
How is Turner syndrome treated?
The approved medication for Turner syndrome is Somatropin (rDNA) or growth hormone, mainly given through injection. The various brands of Somatropin (rDNA) include:
- Nutropin AQ
Estrogen therapy may be recommended to initiate sexual development.
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Common Medical Abbreviations & Terms
Doctors, pharmacists, and other health-care professionals use abbreviations, acronyms, and other terminology for instructions and information in regard to a patient's health condition, prescription drugs they are to take, or medical procedures that have been ordered. There is no approved this list of common medical abbreviations, acronyms, and terminology used by doctors and other health- care professionals. You can use this list of medical abbreviations and acronyms written by our doctors the next time you can't understand what is on your prescription package, blood test results, or medical procedure orders. Examples include:
- ANED: Alive no evidence of disease. The patient arrived in the ER alive with no evidence of disease.
- ARF: Acute renal (kidney) failure
- cap: Capsule.
- CPAP: Continuous positive airway pressure. A treatment for sleep apnea.
- DJD: Degenerative joint disease. Another term for osteoarthritis.
- DM: Diabetes mellitus. Type 1 and type 2 diabetes
- HA: Headache
- IBD: Inflammatory bowel disease. A name for two disorders of the gastrointestinal (BI) tract, Crohn's disease and ulcerative colitis
- JT: Joint
- N/V: Nausea or vomiting.
- p.o.: By mouth. From the Latin terminology per os.
- q.i.d.: Four times daily. As in taking a medicine four times daily.
- RA: Rheumatoid arthritis
- SOB: Shortness of breath.
- T: Temperature. Temperature is recorded as part of the physical examination. It is one of the "vital signs."
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