In 1938,Dr Henry Thener discovered a common defect among a group of 7 girls; they all had the same unusual developmental and physical features which includes abnormally short stature(the most they could grow is 4ft 8in), low-set ears, excess skin on neck,sloppy eyes, neck hairs extending down towards the shoulders. It wasn’t until 1959 that the causes of this defect was discovered.
Turner’s syndrome is a genetic disorder that is caused by the partial or complete lack of one of the female sex chromosomes. This is also known as gonadal dysgenesis. This condition affects approximately 1 in 2000 girls in the United state and 1 in 2745 girls in Nigeria. A normal female Karyotype is 46,XX while that of a female affected with Turner’s syndrome is 45,X or 45,XO. This condition is a genetic disorder and it is usually not inherited unless in rare cases. In Turner’s syndrome, the chromosome change happens randomly before birth.
They are 2 common type of Turner’s syndrome (also known as Monosomy X Turner’s syndrome), each cell of the body has only one X chromosome instead of two. About 45% of people with Turner’s syndrome have this type. It comes from the mother’s egg or father’s sperm randomly forming without an X chromosome. After fertilization, the baby’s cells contains this defect.
The Mosaic Turner’s Syndrome(also called 45,X mosaicism) has some of the baby’s cells with missing X chromosomes while others have a pair of X chromosome. It happens randomly during cell division early in pregnancy.
In some rare cases,babies may have inherited Turner’s Syndrome(gotten from their parent(s). This type usually happen because of a missing part of the X chromosome.
Symptoms associated with Turner’s Syndrome includes;
- Short stature(adults don’t grow pass 4ft 8in).
- Delayed puberty.
- Little or no sexual development which can lead to infertility.
- Broad chest with the nipples so far apart.
- Eye problems(including lazy eyes or drooping eyelids).
- Scoliosis(the spine curves sideways).
- Low hairline at the back of the neck.
- Unusually short,wide neck or webbed neck.
People with Turner’s syndrome are prone to cardiovascular problems, bone problems, autoimmune disorders,kidney defects, metabolic syndrome and mental health challenges.
Usually, parents notice symptoms of Turner’s syndrome. A karyotype analysis can confirm a Turner’s syndrome diagnosis. This is to determine whether one of the X chromosome is fully or partially missing. A complete heart evaluation is also part of the diagnosis because most people with Turner’s syndrome have heart problems.
~Human growth hormone: Injection of this hormone could increase the height of affected persons. If this treatment is administered early enough,it can increase the final height of people with Turner’s syndrome by several inches
~Estrogen Therapy: This hormone helps girls develop breasts and start menstruation,helps their uterus grow to a typical size. It also improve brain development,heart and liver functions and skeletal health.
~Cyclic progestins: This hormones are often added at age 11-12 if blood test notes deficiency. Progestins will induce cyclic menstrusl periods. Treatment is started with very little dosages and then is increased gradually to stimulate normal puberty.
Despite these physical differences and other problems. with the right medical care, early intervention and ongoing support, a girl with Turner’s syndrome can live a normal, healthy and productive life.
written by: Stasia(Mls 200level)
Btyb: Daniel(Mls 300level)