What is Turner syndrome?
Turner syndrome (TS) is a disorder that affects only girls and women. Girls with Turner syndrome have similar characteristics, including short stature, lack of pubertal sexual development and webbed neck. Turner syndrome affects between 2,000 and 1 in 2,500 live births. Most girls with Turner syndrome can expect to lead a healthy, productive and happy life.
Signs and symptoms of Turner syndrome
Girls and women with Turner syndrome can have different signs and symptoms. Each child with Turner syndrome has different physical and psychological developmental changes.
Infancy
(1) Heart and vascular malformations
(2) Laxity of the skin on the side and back of the neck
(3) Puffiness of small hands and feet, etc.
School-age children
(1) Slow growth
(2) Significant short stature compared to their peers
(3) Frequent ear infections
(4) Hearing problems
(5) Eye and vision problems
(6) Learning difficulties
(7) Wide breast spacing
(8) Wide breasts, etc.
Adolescents
(1) Non-developed breasts (no secondary sex characteristics appear)
(2) No menstruation at the expected age
(3) Low adult hairline
(4) Irregular menstruation
(5) Infertility
(6) Heart problems
(7) High blood pressure, etc.
Causes
A normal girl is born with two complete X chromosomes, which are the female sex chromosomes. If some and all cells in the body are missing all or part of the second X chromosome, it can cause Turner syndrome.
Girls need two complete X chromosomes to develop a fully functioning female reproductive system. Some girls with Turner syndrome inherit only one X chromosome, while others have only a partial second X chromosome in some cells. This is the result of a spontaneous error in the cell division process. Turner syndrome is not a genetic disorder.
Complications
Many girls with Turner syndrome lead healthy lives.
However, some girls have mild to severe complications, including
(1) Infertility
(2) Cardiac abnormalities
(3) Chronic or recurrent otitis media and hearing loss
(4) Feeding difficulties during infancy and childhood
(5) Kidney and urinary tract malformations
(6) Diabetes mellitus
(7) Eye problems
(8) High palatal arches and related dental problems
(9) Spinal curvature (scoliosis)
(10) Abdominal cavity disorders
(11) Obesity
(12) Osteoporosis (osteopenia)
(13) High blood pressure
(14) Trouble with visuospatial learning
(15) Difficulty with social skills.
What can medical professionals do for a child with Turner syndrome?
They will perform a thorough and systematic physical examination of her. Then, a series of related tests will be done. Although girls and women of all ages can be diagnosed with this disorder, most girls are diagnosed in childhood or adolescence. Pregnant women can have their intrauterine fetus karyotyped before they give birth. When a young adult woman experiences infertility, a chromosome test may also reveal Turner syndrome. Early diagnosis of Turner syndrome is very important. Most children who receive growth hormone therapy during childhood approach and achieve their genetic height, reducing the incidence of short stature and allowing them to better integrate into society as adults. Adolescents receive sex hormone therapy to stimulate puberty and growth. If there are heart problems or other complications, they can be referred to other specialists. Once diagnosed, the physician will help give education and counseling about the disease. Parents and children may also need to seek communication and support platforms from other patients with the same disease. Groups such as the Turner Syndrome Association in Canada, the United States, and the United Kingdom can provide medical information resources and assistance, as well as support from families with the same disease. If you suspect that your child may have Turner syndrome, you should take your child to a specialist immediately to avoid losing the best chance of treatment.
Prevention
There is no method to prevent Turner syndrome. Pregnant women who are at high risk (those who have delivered a child with TS) can have their fetus karyotyped perinatally.
Important points
(1) Turner syndrome affects only girls and women.
(2) Girls with Turner syndrome have similar characteristics including short stature, lack of pubertal sexual development, and webbed neck.
(3) Most girls with Turner syndrome can expect to lead healthy, productive, and enjoyable lives.
(4) Turner syndrome is not a genetic disorder, but is caused by a chromosomal deletion.
(5) Complications include heart abnormalities and scoliosis.
(6) Treatment with hormones (growth hormone and sex hormone) promotes growth and improves lifelong height and stimulates sexual development and maintenance of femininity.