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Turner Syndrome: Causes, Symptoms, Complications And Treatments

Turner syndrome, also known as congenital ovarian hypoplasia syndrome is a neurogenetic disorder that occurs when one of the X chromosomes is missing (partially or completely) in females. It occurs in 1 out of every 2500 female live births. [1]

What Is Turner Syndrome?
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Turner syndrome is associated with a variety of physical and developmental problems such as short stature, estrogen deficiency and cardiac diseases. However, regular checkups and proper medical care can help improve the lives of females with this disorder.

Know more about Turner syndrome from the article.

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Causes Of Turner Syndrome

Humans have 46 chromosomes, as in 23 pairs. The sex chromosomes are referred to as X and Y which determine male or female sex. The human females have two X chromosomes (XX) while males have one X and one Y chromosomes (XY).

Turner syndrome is caused due to some chromosomal abnormalities during the formation of reproductive cells. It can be due to one of the following reasons: [2]

  • Monosomy: It refers to the complete absence of the second sex chromosome or say, X chromosome. Monosomy occurs due to error in a sperm cell or an egg due to nondisjunction that cause a missing X chromosome in every cell in the body. Most of the incidences of the condition are not inherited.
  • Mosaicism: It is a kind of abnormality in which some cells in females have two chromosomes, but some have only one. This results in the absence of only some copies of X chromosomes, not all.
  • Missing X chromosome: Females with Turner syndrome do not always have a full missing X chromosome as in some, there can be a missing piece or deletion of X chromosomes. The deletion mainly occurs sporadically and is rarely inherited by a parent. The condition occurs during the cell division and can cause missing parts in all the cell. In some cases, only a few cells get affected by a missing gene copy (mosaicism).

It is still unclear which X chromosome gene is exactly missing, but experts suggest that Turner syndrome cause SHOX gene, which is responsible for the growth and bone development of an individual, missing. This is the reason why females with Turner syndrome are often short in stature with skeletal dysfunctions.

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Symptoms Of Turner Syndrome

There are many symptoms of Turner syndrome ranging from mild to severe. Also, the symptoms vary from individual to individual.

Some of the common physical abnormalities include:

  • Short stature (which is usually recognised by age 5)
  • Estrogen deficiency
  • Infertility [3]
  • Delayed puberty
  • Middle ear infection
  • Bone age retardation
  • High blood pressure
  • High levels of liver enzymes
  • Decreased bone mineral
  • Cardiac abnormalities such as ischemic heart disease and arteriosclerosis
  • Underactive thyroid gland
  • Risk of diabetes and obesity
  • Cubitus valgus (outward turned elbows)

Cognitive abnormalities include:

  • Non-verbal skills
  • Poor word retrieval ability
  • Non-lexical reading
  • Deficits in visual-spatial
  • Deficits in visual perception
  • Deficits in mental rotation, face recognition and object assembly
  • Problems in right-left disorientation
  • Difficulties in design copying
  • Poor planning and organisation [4]
  • Impaired attention and concentration
  • Slower processing speed
  • Impaired behavioural control

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Complications Of Turner Syndrome

Complications of Turner syndrome include:

  • Autoimmune diseases such as colitis, thyroiditis, celiac disease, type 1 diabetes and psoriasis.
  • Heart abnormalities such as smaller aortic diameter
  • Skeletal abnormalities such as the increased risk of fracture and osteoporosis.

Diagnosis Of Turner Syndrome

Turner syndrome is mostly diagnosed during prenatal screening or examination. When babies are at the womb, results of the ultrasound, signs of congenital heart disease and genome sequencing can help identify the disease at an early stage.

Karyotype analysis is another standard form of diagnosis which may help identify the condition in cases when prenatal examinations show an error. [5]

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Treatments Of Turner Syndrome

Some of the treatment methods of Turner syndrome include: [6]

  • Growth hormone therapy: To increase the height of females affected by the condition.
  • Estrogen therapy: It is mainly suggested for girls over 15 years. Here, estrogen is administered in girls for the development of their reproductive system and to improve other functions such as cognitive and liver. It helps improve the quality of life.
  • Oxandrolone therapy: It is a combination therapy to increase both the height and promote growth in females with Turner syndrome.

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To Conclude

The long-term outlook and life expectancy of people with Turner syndrome are typically good but slightly shorter than healthy adults with no underlying conditions. Addressing the complications such as heart disease, diabetes and hypertension of Turner syndrome can help improve the quality of life. As far as infertility in women with this condition is concerned, it can be successfully carried out with donor eggs and other reproductive technologies.