Symptoms of Turner Syndrome

Turner syndrome is considered as a genetic disorder found in girls. It affects development in females. This condition is caused by a defective or missing X chromosome. The genes affected are associated with growth and sexual development. Girls with Turner syndrome are shorter with abnormal sexual characteristics.

According to Turner syndrome facts, it is typically caused by nondisjunction. In this condition, a pair of chromosome doesn’t separate during the formation of egg. If an abnormal egg unites with a normal sperm, then it results in missing one of the sex chromosomes (X chromosome) in the embryo. As the embryo develops and cells divide, every cell in the body is missing one of the X chromosomes. Turner syndrome can occur in 1 out of every 2,000-2,500 girls.

Symptoms of Turner Syndrome

Symptoms of Turner syndrome are varying, ranging from minor cosmetic issues to as severe as major heart defects. Symptoms may vary from woman to woman. In most cases, females with Turner syndrome have a short stature and loss of ovarian function. These are the most common symptoms of Turner syndrome.

• Short stature: Girls with Turner syndrome are born shorter than average (18.5 inches as compared with 20 inches of normal). These girls remain short throughout their teenage and adulthood. With an appropriate treatment, these girls can reach an adult height of about 4 feet 8 inches.
• Ovarian failure and infertility: Many girls with Turner syndrome are born with streak gonads. Female hormones, required for growth and sexual development, are not produced by the ovaries. In some cases, ovaries look normal in childhood, but they stop functioning soon. Since ovaries play an important role in sexual development, many girls with Turner syndrome don’t develop breasts and other female characteristics. Many girls don’t start menstruation or have delayed or irregular menstrual cycle. As a result, infertility is very common in the females with Turner syndrome. Estrogen therapy is helpful for the females with Turner syndrome. It helps them reach average height, start menstruation and develop adult female body characteristics.

Some other symptoms of Turner syndrome associated with physical characteristics are as follows:

• Swelling or puffiness (lymphedema) of the hands and feet
• Extra skin on the neck (webbed neck)
• Broad chest
• Low-set ears and low hairline at the back of the head
• A receding lower jaw or arched upper jaw
• Drooping or lazy eyes
• Flat feet
• Arms turning outward at the elbows (cubitus valgus)
• Soft fingernails turned upward
• Colored spots on the skin
• Irregular rotation of wrist and elbow joints
• Problems with breast development

Women with Turner syndrome are at a higher risk of developing some other medical conditions such as heart disease, kidney diseases, hearing problems, high blood pressure, osteoporosis, Type 2 diabetes, thyroid disorder such as hypothyroidism, etc.

Most girls with Turner syndrome in their early childhood have frequent attacks of middle ear infections and glue ear. In some cases, it can lead to hearing loss in their adulthood. Girls with Turner syndrome have normal intelligence with good reading and verbal skills. However, some girls may have certain problems with memory skills and fine-finger movements.

Diagnosis and Treatment for Turner Syndrome

Turner syndrome can be diagnosed on the basis of physical examination and some investigations. Certain tests such as blood hormone levels (follicle stimulating hormone and luteinizing hormone), karyotyping (chromosome analysis), echocardiogram, MRI of chest, ultrasound of reproductive organs and kidneys and pelvic exam are helpful in the diagnosis of Turner syndrome.

Growth hormone therapy and estrogen therapy are recommended for the females with Turner syndrome. The goal of these therapies is to attain average height and sexual development. Cardiac surgery may be needed in case of certain heart defects.