Turner syndrome is a chromosomal disorder that affects development in females. It occurs when one of the X chromosomes is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short stature, failure of the ovaries to develop, and heart defects.

Causes

  • Nondisjunction: An error in cell division that results in a reproductive cell with an abnormal number of chromosomes. For Turner syndrome, a female is typically born with only one X chromosome instead of two (45,X karyotype) or with a partially missing X chromosome.

  • Mosaicism: Some cells have the usual two X chromosomes, but other cells have only one.

Symptoms

Symptoms and characteristics can vary greatly among individuals with Turner syndrome, but common features include:

  • Short Stature: This is the most consistent feature.

  • Delayed Puberty: Due to ovarian insufficiency.

  • Infertility: Most women with Turner syndrome are infertile.

  • Heart Defects: Especially congenital heart disease like bicuspid aortic valve or coarctation of the aorta.

  • Learning Disabilities: Particularly in math, but normal intelligence.

  • Skeletal Abnormalities: Such as scoliosis and webbed neck.

  • Kidney Problems: Abnormalities in kidney structure or function.

  • Hearing Loss: Recurrent middle ear infections may lead to hearing loss.

  • Edema: Especially of the hands and feet.

Treatment

There is no cure for Turner syndrome, but many of the associated symptoms and conditions can be treated:

  1. Growth Hormone Therapy: To increase height as much as possible at a young age.

  2. Estrogen Replacement Therapy: To initiate the development of secondary sexual characteristics and maintain uterine health.

  3. Regular Medical Care: To monitor and treat heart, kidney, thyroid, and diabetes issues.

  4. Fertility Treatment: Women with Turner syndrome who wish to become pregnant may consider fertility treatment options, such as IVF with donor eggs.

  5. Educational Support: Due to learning disabilities, especially in math.

Medication

  • Growth Hormone: Administered in childhood to promote growth.

  • Estrogen and Progesterone: To stimulate sexual development and maintain reproductive organ health.

Medical care for Turner syndrome typically involves a multidisciplinary team, including endocrinologists, cardiologists, fertility specialists, and educational specialists. Early and regular medical care can help most girls and women lead relatively healthy lives, though ongoing monitoring for potential complications is important.