Rare Classroom: Turner Syndrome

Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most mysterious diseases and conditions. There are thousands of rare diseases out there, but only a very small number of them have viable treatments and regularly make the news. This series is an opportunity to learn the basics about some of the diseases that almost no one hears much about or that we otherwise haven’t been able to report on very often.

Eyes front and ears open. Class is now in session.

The disease that we will be learning about today is:

Turner Syndrome

Also called 45,X or 45,X0.

What is Turner Syndrome?

  • Turner syndrome is a genetic condition in which a female has a partial or completely missing X chromosome in some or all cells.
  • This generally leads to a distinct set of unusual physical features and incomplete sexual development.
  • The condition was first described in 1938 by Henry Turner, an American endocrinologist
    • Some earlier cases had also been described by doctors in Europe
  • Turner syndrome is believed to appear in between 1 and 2,000 and 1 and 5,000 female births
  • Life expectancy of patients is slightly lower than the general population
  • 99 percent of fetuses with Turner syndrome terminate spontaneously in the first trimester.

How Do You Get It?

  • Turner syndrome patients are infertile without the use of reproductive technology
    • Therefore, the disease is rarely inherited
  • Instead, the condition usually appears sporadically, appearing during the formation of the parent’s reproductive cells or in the early cell division of an embryo’s development.
  • For parents of a child with the syndrome, the risk of recurrence is not increased for any future pregnancies.
  • There are no known environmental risks for Turner syndrome
  • All ethnicities, cultures, and regions are affected equally

What Are The Symptoms?

  • Symptoms of Turner syndrome include:
    • Physical
      • Infertility
      • Delayed or absent puberty
        • Patients often do not develop breasts or a menstrual cycle without hormone treatment
      • Heart defects
      • Short stature
        • Average height is between 4 foot 9 inches and 5 foot 2 inches
      • Neck webbing
      • Low hairline
      • Broad chest
      • High arched palate
      • Swollen hands and feet
      • Shortened fingers
      • Small chin
      • Prominent ears
      • Scoliosis
    • Cardiac
      • Congenital heart defects are present in about half of cases
      • Examples include:
        • Abnormalities of the head and neck arteries
        • Bicuspid aortic valves
        • Coarctation of the aorta
      • Patients are also at a higher risk of aortic dissection
      • Coronary artery disease occurs earlier in life in Turner syndrome patients
      • Mortality from heart events is a major factor for reduced Turner syndrome
    • Sensory
      • Hearing loss is common, with problems beginning in childhood
        • Hearing progressively worsens throughout life
      • Vision problems are also more common in Turner syndrome
    • Autoimmune
      • Risk of autoimmune disorders is two or three times higher than the general population
      • Disorders that have been linked to Turner syndrome include:
        • Celiac disease
        • Hashimoto’s disease
        • Alopecia
        • Vitiligo
        • Psoriatic arthritis
        • Ulcerative colitis
        • Thyroid disease
    • Systemic
      • A broad variety of other health challenges must also be monitored in Turner syndrome such as:
        • Obesity
        • Diabetes
        • Hypertension
        • Nonalcoholic fatty liver disease
        • Horseshoe kidney (kidneys are fused together)
      • Patients also have an increased risk of certain tumors and cancers:
        • Neuroblastoma
        • In situ seminomas
        • Gonadoblastoma
  • Cognition and intelligence are usually unaffected. However, some patients may struggle with spatial visualization, which is important for learning math.

How Is It Treated?

  • There is no cure for Turner syndrome. However, much can be done to improve and manage the symptoms.
  • Growth hormone therapy is a common method of treatment. This can improve growth and height, and it is sometimes used alongside androgen.
  • Estrogen replacement therapy may also be used. This improves sexual development as well as tissue health, cardiovascular health, and bone strength.
  • Reproductive technologies can allow Turner syndrome patients to become pregnant and have children.

Where Can I Learn More???

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