Turner Syndrome

Raeyven Hobbs

Synonyms

  • 45, X Syndrome
  • Bonnevie-Ullrich Syndrome
  • Monosomy X
  • Ullrich-Turner Syndrome

General Description

  • Turner Syndrome is a rare chromosomal disorder that affects females. It is characterized by either partial or complete loss of one of the X chromosomes. It can differ from one person to another.

Signs and Symptoms

  • Short stature
  • Premature ovarian failure, which can result in failure to attain puberty
  • Women being infertile
  • Short neck with webbed appearance, abnormalities of the eyes and ears, broad chest, heart anomalies, and kidney abnormalities.
  • In some cases, there can be learning disabilities

Causes

  • They do not know the cause of Turner Syndrome. Most cases do not run in families and appear to occur randomly for no apparent reason.
  • In some cases, the chromosomal abnormality appears to arise spontaneously due to an error in the division of a parent’s reproductive cells, either in the father’s sperm or the mother’s egg.

Affected Populations

  • Affects approximately 1 female in 2,000-2,500 live female births
  • More than 70,000 women and girls in the United States have Turner Syndrome
  • No known racial or ethnic facts that influence somebody getting the disorder

Related Disorders

  • Noonan Syndrome: common genetic disorder that is typically evident at birth. The disorder is characterized by a wide range of symptoms. They include distinctive facial appearance, webbed neck, low posterior hairline, chest deformity and short stature. Also additional symptoms are abnormalities include malformation of certain blood and lymph vessels, blood clotting and platelet deficiencies, and learning difficulties.
  • It affects both male and females and there is a normal chromosomal make up.

Diagnosis

  • A diagnosis of Turner Syndrome is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests.
  • A diagnosis is usually confirmed by chromosomal analysis, which is achieved by determining the karyotype.
  • It is being increasingly diagnosed before birth based on chromosomal analysis performed subsequent to amniocentesis or chronic villus sampling.

Standard Therapies

  • Directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists.
  • Genetic counseling may be of benefit for affected individuals and their families.
  • Specific therapeutic procedures and interventions may vary depending upon numerous factors, such as a disease severity; the presence orabsence of certain sumptoms

Supporting Organizations

  • Turner Syndrome Society of the United States
  • Genetic and Rare Diseases Information Center
  • Human Growth Foundation
  • Let Them Hear Foundation
  • MAGIC Foundation