In Turner’s syndrome which of the following is NOT seen –
Correct Answer: Mental retardation
Description: Turner's syndrome results from complete or partial monosomy of the X chromosome and is characterized primarily by hypogonadism in phenotypic females.
It is the most common sex chromosome abnormality in females.
Features of Turner syndrome in children
The most severely affected patients generally present during infancy with edema (owing to lymph stasis) of the dorsum of the hand and foot and sometimes swelling of the nape of the neck.
Swelling of the neck is related to markedly distended lymphatic channels, producing so called cystic hygroma.
As these infants develop, the swelling subsides but often leave bilateral neck webbing and persistent looseness of skin on the back of the neck.
Congenital heart disease is also common, particularlypreductal coarctation of Aorta and bicuspid Aortic valve.
C. V. S abnormalities are the most important cause of mortality in children with Turner's syndrome.
Features of Turner's syndrome in Adolescents and Adult
At puberty, there is a failure to develop normal secondary sex characteristics.
The genitalia remains infantile, breast development is inadequate and there is little pubic hair. Nipples are widely spaced.
Turner syndrome is the single most important cause of primary amenorrhoea accounting for approximately 1/3 of the cases.
Short stature (height rarely exceeds 150 cm).
The mental status of these patients is usually normal but subtle defects in nonverbal, visual-spatial information processing have been noted (Recall that mental retardation is associated with the presence of extra chromosome) not with the loss of X chromosome.
About 50% of the patients develop autoantibodies directed to the thyroid gland and up to one-half of these patients develop hypothyroidism.
Glucose intolerance, obesity and insulin resistance are also seen.
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