Turner syndrome is a chromosomal condition caused by incomplete or missing X- chromosome altering the development in females.
Turner syndrome affects the girl’s development .Turner syndrome is an chromosomal abnormality in which all or part of one of sex chromsome is absent.Normal females have two X chromosome but in Turners one of sex chromosome is missing .
Henry Turner in 1938 first described Turner syndrome.
Women with Turner syndrome tend to be shorter than average and are usually unable to conceive a child. Turner syndrome is seen in 1 of every 2000 to 2500 babies born, with about 800 new cases diagnosed each year.
Turner syndrome is not usually inherited in families. Women with this syndrome tend to be shorter in height than average and are infertile ( inability to conceive child ).
Age / Sex groups affected by Turners Syndrome / Monosomy X
Turner syndrome only occurs in females.
No racial predilections are known.
Many of the features of Turner syndrome, including the short stature, are due to the lack of a second SHOX gene, which is on the X chromosome.
• Extra skin on the neck (webbed neck)
• Puffiness or swelling of the hands and feet
• Skeletal abnormalities
• In few cases signs of hypothyroidism
• Heart defects and kidney problems.
• High blood pressure (hypertension )
• Elevated levels of luteinizing hormone (LH) and FSH confirm ovarian failure.
• Minor eye problems( ptosis , cataract ) , ear problems ( otitis media)
• Girls with Turner Syndrome are usually of normal intelligence with good verbal skills and reading skills.
• Physical examination – short stature and the lack of the development of the ovaries.
• Blood test – karyotyping (chromosomal analysis )
• During pregnancy chorionic villus sampling (CVS) or amniocentesis.
• Chest MRI
• Growth hormones injections
• Hormone replacement therapy
• Heart defects
• Kidney problems
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