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Turner’s Syndrome

Turner’s syndrome, also referred to as gonadal dysgenesis, can occur in girls as a result of partial or complete missing of an X chromosome.

  • One chromosome from the two X chromosomes normally found in a female may be partially formed or completely deleted in those with Turner’s syndrome.
  • Short stature, extra skin at the back of the girl’s neck, and not reaching puberty normally, are the usual symptoms. Learning disabilities are also common in the affected girls.
  • A blood test to analyze the chromosomes can confirm the diagnosis.
  • Hormone treatments can stimulate normal growth, and help the girls reach puberty.

The pair of X chromosomes in girls is also referred to as sex chromosomes. Turner’s syndrome is the most commonly occurring X chromosome defect in girls. However, occurrence of this condition in live births is very rare due to spontaneous abortion of 99% the affected female fetuses.

Lymphedema, or swellings on the back of hands and top of feet, are common in newborn girls who have Turner’s syndrome. A swelling or extra skin folds may be present at the back of the infant’s neck too. Certain abnormalities like webbed neck, in which extra wide skin connects the shoulders and the neck, also may develop. The chest may be broad with the nipples widely spaced. Girls with Turner’s syndrome are comparatively shorter than other members of their family. The hairline running low at the back of the child’s neck, droopy upper eyelids referred to as ptosis, moles known as nevi, as well as poorly formed nails, may occur in the affected girls, but they are not as common.

Girls who have Turner’s syndrome do not undergo normal sexual development. Breasts, as well as external genitalia such as the labia and the vagina, remain unchanged and child-like, without going through the usual changes associated with puberty, and the girls do not reach menarche. They are usually infertile and do not menstruate as their ovaries do not carry viable eggs. The absence of menstruation is termed amenorrhea. Girls with this condition are almost always obese with a short stature.

Other associated disorders include heart defects, diabetes mellitus, kidney defects, and thyroid disease. Narrowing of a portion of the large blood vessel aorta, known as coarctation of the aorta, is very common. Hemorrhage due to abnormal intestinal blood vessels may occur. Loss of hearing also may occur. Common eye problems include strabismus, commonly known as crossed eyes, and hyperopia or farsightedness. Girls who have Turner’s syndrome are more prone to developing celiac disease also.

ADHD or attention deficit hyperactivity disorder and learning disabilities are common in girls who have Turner’s syndrome. They may have difficulty in assessing spatial and visual relationships. It may be challenging for them to plan different tasks, pay attention, and focus on activities. However, they do not usually have any intellectual disability or mental retardation. They usually perform poorly in mathematics and certain other performance assessments, in spite of their average, or even above average performance in verbal intelligence assessments.

Abnormalities in the appearance of a newborn girl may indicate Turner’s syndrome, but the condition may often go unrecognized till the girl reaches teenage, when the short stature and the lack of sexual development may lead to diagnosis. Further testing to analyze the chromosomal make up help confirm it.

If the affected girl is treated with growth hormones, it can stimulate the girl’s normal growth. Treatment with the hormone estrogen is usually initiated when the girl is around 12 to 13 years old. It can help the child reach puberty. In addition to the sexual maturity attained, there are several other benefits to estrogen therapy, including significant improvement in cognitive development. The ability to focus attention, and plan different tasks, is greatly improved. Assessment of spatial and visual relationships is also enhanced. However, hormone treatment with estrogen is initiated only after satisfactory physical growth is achieved.

Regular eye examinations, preferably by a qualified pediatric ophthalmologist, as well as periodic hearing tests, in addition to frequent assessment of thyroid function, are essential. Timely medical intervention is also necessary to maintain quality of life. Testing for celiac disease is also important.

Watch This Personal Experience About Turner’s Syndrome:

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