Turner syndrome

Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing.

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Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood 

Prenatal ultrasound of a baby with Turner syndrome may show:

• Large fluid collection on the back of the neck or other abnormal fluid collections (edema)
• Heart abnormalities
• Abnormal kidneys                                 Signs of Turner syndrome at birth or during infancy may include:
• • Wide or weblike neck
  • Low-set ears
  • Broad chest with widely spaced nipples
  • High, narrow roof of the mouth (palate)
  • Arms that turn outward at the elbows
  • Fingernails and toenails that are narrow and turned upward
  • Swelling of the hands and feet, especially at birth
  • Slightly smaller than average height at birth
  • Slowed growth
  • Cardiac defects
  • Low hairline at the back of the head
  • Receding or small lower jaw
  • Short fingers and toes।                        Causes
  • Monosomy
  • Mosaicsm
  • X chromosomal changes 

  • Complications

    Turner syndrome can affect the proper development of several body systems, but this varies greatly among individuals with the syndrome. Complications that can occur include:

    • Heart problems. Many infants with Turner syndrome are born with heart defects or even slight abnormalities in heart structure that increase their risk of serious complications. Heart defects often include problems with the aorta, the large blood vessel that branches off the heart and delivers oxygen-rich blood to the body.
    • High blood pressure. Turner syndrome can increase the risk of high blood pressure — a condition that increases the risk of developing diseases of the heart and blood vessels.
    • Hearing loss. Hearing loss is common with Turner syndrome. In some cases, this is due to the gradual loss of nerve function. An increased risk of frequent middle ear infections can also result in hearing loss.
    • Vision problems. An increased risk of weak muscle control of eye movements (strabismus), nearsightedness and other vision problems can occur with Turner syndrome.
    • Kidney problems. Turner syndrome may be associated with malformations of the kidneys. Although these abnormalities generally don't cause medical problems, they may increase the risk of urinary tract infections.
    • Autoimmune disorders. Turner syndrome can increase the risk of an underactive thyroid (hypothyroidism) due to the autoimmune disorder Hashimoto's thyroiditis. There is also an increased risk of diabetes. Sometimes Turner syndrome is associated with gluten intolerance (celiac disease) or inflammatory bowel disease.
    • Skeletal problems. Problems with the growth and development of bones increase the risk of abnormal curvature of the spine (scoliosis) and forward rounding of the upper back (kyphosis). Turner syndrome can also increase the risk of developing weak, brittle bones (osteoporosis).
    • Learning disabilities. Girls and women with Turner syndrome usually have normal intelligence. However, there is increased risk of learning disabilities, particularly with learning that involves spatial concepts, math, memory and attention.
    • Mental health issues. Girls and women with Turner syndrome may have challenges functioning in social situations, may experience anxiety and depression, and may have an increased risk of attention-deficit/hyperactivity disorder (ADHD).
    • Infertility. Most females with Turner syndrome are infertile. However, a very small number may become pregnant spontaneously, and some can become pregnant with fertility treatment.
    • Pregnancy complications. Because women with Turner syndrome are at increased risk of complications during pregnancy, such as high blood pressure and aortic dissection, they should be evaluated by a heart specialist (cardiologist) and a high-risk pregnancy doctor (maternal-fetal medicine specialist) before pregnancy.