Turner Syndrome – Symptoms of Turner Syndrome

Gonadal dysgenesis, Ullrich-Turner syndrome are all the names given to the Turner Syndrome. There can be several conditions related to the syndrome, but absence of an entire sex chromosome is the most serious. This condition is medically termed as monosomy X. Either the entire pair or a part of any sex chromosome may be absent. It may also be seen that the chromosome appears missing in some of the cells in the body and not in all cells. Such a condition is termed as Turner mosaicism or mosaicism.

All human beings have cells. Each cell is comprised of 46 or 23 pairs of chromosomes normally. Out of which, 44 or 22 pairs are autosomes and 4 or 1 pair of chromosomes are sex chromosomes. The sex of a human being is decided based on the type and count of the sex chromosomes. If a fetus has 2 X sex chromosomes, then she is blessed as a female. When the sex chromosome counts for 1 X and 1 Y chromosome, the fetus will grow into a male.

When a female lacks either of its two sex chromosomes, or has a part of its sex chromosome missing, then she is diagnosed with Turner Syndrome. This condition is very rare in occurrence, only 1 out of every 2500 girls are found affected.

Symptoms of Turner Syndrome
A few physical symptoms may be observed in people with Turner Syndrome. These include a number of physical abnormalities that counts as the characteristic symptoms of Turners Syndrome –

  • short stature
  • low hairline
  • unusual swelling in body (in hands and feet; called lymphedema)
  • shield or broad chest
  • nipples are widely placed
  • low-set ears
  • webbed necks

Girls are normally blessed with ovaries for carrying out successful reproduction. But Girls diagnosed with Turner’s Syndrome lacks this capability. They experience gonadal dysfunction. In common terms, they have non-functional ovaries. Lacking in proper reproductive structure also results in amenorrhea. Amenorrhea is defined as the absence of menstrual cycle and sterility in females. Other health concerns found frequently are –

  • congenital heart disease
  • hypothyroidism (reduced secretion of thyroid hormone by the thyroid gland)
  • diabetes
  • problems with vision and hearing
  • few autoimmune diseases

A few cognitive deficiencies may be observed along with defects in the memory areas, visuospatial and mathematical areas. The common signs found in a new born include –

  • lymphedema
  • puffy legs

Other common symptoms of Turner Syndrome include:

  • obesity or increase in weight
  • thorax of the heart appears shield-shaped
  • fourth metacarpal bone appears shortened
  • small fingernails
  • certain characteristic facial features
  • coarctation of the aorta
  • bicuspid aortic valve
  • horseshoe-shaped kidney
  • observance of visual impairments like cornea, sclera or glaucoma
  • defective audible ability

Some rare Symptoms of Turner Syndrome include –

  • micrognathia (small lower jaw)
  • cubitus valgus (turned-out elbows)
  • soft and upturned nails
  • palmar crease
  • drooping eyelids
  • pigmented moles
  • narrow maxilla (high-arch palate)

Till today no individuals have been found sharing the exact symptoms. The combination and appearance varies from person to person.

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