Turner Syndrome (TS)

Turner syndrome is a congenital condition that affects females only and causes several medical and developmental issues.

Turner syndrome

Turner syndrome occurs when there is a missing X chromosome (a sex chromosome) in females. This condition could affect 1 in 2000-2500 female infants.

Causes of Turner syndrome

• Each person normally has 23 pairs of chromosomes, and one pair of them is the sex chromosomes, which are XX in females and XY in males. Turner syndrome results from a missing X chromosome in females, which could be missing partially or completely. The reason for that isn’t well-known yet, but it’s thought that it happens due to a problem in the egg or sperm during conception.

Symptoms of Turner syndrome

Symptoms of Turner syndrome differ among girls, and they might manifest soon after birth or develop gradually while growing up.

Signs of Turner syndrome on the fetus during pregnancy:

• Heart and kidney problems.
• Fluid buildup behind the neck.

Symptoms of Turner syndrome that appear after birth:

• The neck is broad and short.
• The hairline at the back of the neck is low.
• The lower jaw is receding and small.
• The roof of the mouth is narrow and high.
• The shape of ears is different, like being low-set.
• The chest is wide, and the distance between nipples is longer than usual.
• Short fingers and toes and narrowed fingernails and toenails.
• Flat feet.
• Tardy growth.

Symptoms of Turner syndrome in childhood, adolescence, and adulthood:

• Slow growth.
• The height is not as expected.
• Late puberty, and sometimes the puberty is totally absent.
• Stalled sexual development.
• Decreased levels of sex hormones.
• Infertility.

Complications of Turner syndrome

• Heart disease and hypertension.
• Skeletal problems, like increased risk of osteoporosis and scoliosis.
• Hearing and vision problems.
• Increased risk of autoimmune disorders like Hashimoto’s disease, celiac disease, and inflammatory bowel syndrome.
• Kidney problems, like increased risk of urinary tract infections.
• Metabolic syndrome.
• Learning challenges, like problems with memory and understanding.
• Pregnancy complications.

Diagnosis of Turner syndrome

• Before birth: Imaging tests and certain genetic tests.
• After birth: karyotyping test.

Treatment of Turner syndrome

• There isn’t a cure for Turner syndrome, but the symptoms can be managed by growth hormone therapy and estrogen therapy.