According to the Mayo Clinic, Turner syndrome (TS) is defined as “a condition that affects only girls and women, results from a missing or incomplete sex chromosome” causing a “variety of medical and developmental problems, including short stature, failure to begin puberty, infertility, heart defects and certain learning disabilities.”
TS can be diagnosed as early as infancy till as late as adolescent or young womanhood. Females will need continual medical attention from whatever specialist deemed necessary to meet their specialized health requirements. Thereby, allowing most to have a reasonable measure of health, which will enable them to live normal lives.
Signs noticed at birth or soon after may include:
Wide or web-like neck
Small lower jaw
Low hairline at back of the head
Arms that turn outward at the elbows
Fingernails turned upward
Swelling of hands/feet
Slightly smaller than average height at birth
TS may get diagnosed in teen-aged girls or young women as well. In such cases, usually the symptoms are not as extreme. They may include:
No normal growth spurts
Difficulty in social situations – i.e., understanding people’s emotions
Failure to sexually mature because of ovarian failure, resulting in no estrogen or hormone production
For most, no menstrual cycle or ability to conceive without fertility assistance
When to See the Doctor
If not otherwise diagnosed at the time, for babies, there are normal check-ups that should be kept for well-baby care anyway. But especially is this true if you notice anything yourself. Please do not hesitate to bring this to the attention of the pediatrician. Regular visits to the doctor gives him the opportunity to catch TS as early as possible say…if baby isn’t growing at the expected rate and/or puberty hasn’t started.
If proper care is not obtained, TS has several complications that could develop or go uncontrolled, such as heart problems, hearing loss, kidney problems, immune disorders, dental and vision problems, skeletal problems, and depression or low self-esteem.
Tests, Diagnosis and Treatment
If TS is suspected, a test for chromosomes will be ordered. A blood sample is taken and a karyotype or specialized image test is done whereby a scientist can count the chromosomes in the sample. In some cases, diagnosis can be done prenatally, especially is this true when ultrasound images reflect questionable features of your child. This is when your doctor may ask you if you want further testing. Chorionic villus sampling can be done where a small piece of tissue from the placenta is extracted and examined. Or an amniocentesis could be done, where fluid is taken from the uterus.
The frontline treatment will be hormone therapy – growth hormone and estrogen therapy. Since TS sufferers have small stature, a growth hormone helps them reach as normal height as possible. And estrogen helps them reach puberty and sexual development. As your daughter crosses over to adulthood, continued care will be needed due to her special needs. Timely medical care will improve her quality of life. Even later on, she might want to become a mother herself, it will be important to visit the doctor to see what options are open for her since pregnancy is usually very difficult for anyone with TS.
Coping for You and Her
It can be hard being a teenager anyway, add with that TS and this may be overwhelming for some. Parents have to cope as well since you want your daughter to be happy. Check out the Tuner Syndrome Society of the United States. They have educational materials and resource recommendations for families. Peer groups for girls with TS give them support and people to relate to, consequently, boosting her self-esteem. Parent groups exchange experience, advice and help support each other at such a sensitive time.
Resource: Mayo Clinic
Dita Faulkner is a freelance writer who is a strong advocate for the betterment of families.
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