Turner syndrome is a chromosomal disorder that affects only females. This disease is characterized by growth problems and physical abnormalities.
Normally, a human being has 46 chromosomes, and two among them are sex chromosomes. While females have two ‘X’ chromosomes, males have one ‘X’ chromosome and a ‘Y’ chromosome. In females affected with Turner syndrome, the second ‘X’ chromosome may be missing completely or partially, or has certain abnormalities. As this disease affects the second ‘X’ chromosome only, males are not affected (as their second sex chromosome is ‘Y’). This disease is named after Henry Turner, the endocrinologist who described this condition in 1938.
Symptoms: Turner syndrome is characterized by growth problems, infertility, physical abnormalities, etc. The common symptoms are short stature, webbed neck (extra neck skin), low hairline, broad chest, and swelling in hands and feet. They may also experience kidney problems, heart diseases, diabetes, hearing and vision problems, autoimmune diseases, and hypothyroidism. Some may experience memory problems, and difficulty in learning maths. Even though they have a well-developed uterus, their ovaries will be non-functioning. Those with this disease appear normal till the age of three. However, after that age, the growth rate slows down, and other symptoms develop. Symptoms may vary from person to person.
Diagnosis: Turner syndrome is diagnosed in early childhood itself. In some cases, it can be detected at the time of birth, due to presence of heart diseases, wide neck, and swelling of the hands and the feet. Sometimes this disease can be detected during the fetal stage itself, through amniocentesis. Amniocentesis is the prenatal diagnosis of chromosomal abnormalities. Ultrasound abnormalities may also detect Turner syndrome. One of the main tests conducted to detect this chromosomal disorder is the karyotype or chromosome analysis.
Treatment: Turner syndrome is a chromosomal disorder which cannot be completely cured, but the intensity of the symptoms can be reduced to some extent, with proper and timely medical attention. Pediatric endocrinologists can take care of the hormones and metabolism of the affected children. The following are some of the treatment options for those with Turner syndrome.
- Growth hormones are found to be beneficial in increasing growth, especially the height of the affected females.
- Estrogen replacement therapy is useful in improving secondary sexual characteristics, like breast development. This treatment is started at the age of around 12 to 13 years, and is very much necessary to prevent the occurrence of osteoporosis in women affected with Turner syndrome.
- In case of sterility, the affected females can get pregnant with donor eggs, but they must be very careful, as there are higher chances of miscarriage.
- Some of the affected babies may suffer from recurrent ear infections, which can lead to hearing loss. Hence, regular monitoring by a specialist doctor is recommended.
- Women with Turner syndrome are more likely to develop high blood pressure, diabetes, and thyroid disorders. Regular medical examinations are beneficial in preventing and treating such conditions.
It is believed that one in every 2500 female kids are born with Turner syndrome, and the specific cause for this disease is unknown till date. The only known fact is that it occurs due to the faulty transfer of ‘X’ chromosomes during conception (a fully/partly missing ‘X’ chromosome).
Even though women with Turner syndrome are affected by many health problems, appropriate and timely medical treatment can help them to lead a healthy life.
Disclaimer: This article is for informational purposes only and should not be used as a replacement for expert medical advice. Visiting your physician is the safest way to diagnose and treat any health condition.