Turner Syndrome in Eye disease

February is the shortest month in a year but a lovely and pleasant month, which we all relish and love, month of Basant (Spring) .Similarly there are some short but lovely women among us who suffer from Turner Syndrome. An aware community can help them in timely diagnosis and hence supportive therapy leading to achievement of their full potential.

This short month of February is used as the month for creating awareness about this common genetic disorder.

Lack of awareness leads to delayed therapy and a suffering for these innocent women. Hence we all should help to bring awareness about this common genetic disorder.

Facts about Turner Syndrome

  • This condition is seen in 1:2000 female child births
  • It is a type of chromosomal anomaly, in this condition out of two X chromosomes which a female normally carries; one chromosome is either completely or partially missing. In few cases few cells have normal two X chromosomes, while some cells have single X chromosome i.e. a mosaic pattern
  • Female with turner syndrome is mostly small statured
  • The common physical features are short stature, low set ears, low hair line on neck, webbed neck, high arched pallet leading to crowding of teeth, flat chest, delayed or absent menses, infertility etc
  • They have high chances of systemic problems like hypertension, cardiac problems, kidney problems like horse shoe kidney, liver problems and eye problems like drooping of eye lid, squint, cataract etc
  • These women are infertile but now can benefit from egg donation and IVF (test tube baby)
  • They have short stature but if timely diagnosis is made and growth hormone therapy started, then they can attain normal adult height
  • Timely use of female sex hormone estrogen leads to normal development of secondary sexual characteristics like breast, pubic hair etc. Estrogen and progesterone are used for inducing menses.
  • These women normally have normal intelligence but have difficulty in non verbal learning like they have difficulty in mathematics, driving, understanding subtle facial expressions etc. these lead to behavioral and psychological problems. But they can be helped by an understanding home environment and professional help and can have a useful fulfilling life.
  • They are capable of having normal sexual relationship.
  • During pregnancy a suspicion can be made based on certain ultrasound findings. A confirmation of diagnosis is based on the basis of chromosomal studies based on amniocentesis and chorionic villus biopsy. This study of chromosomes is called karyotyping.
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