Klinfelter’s syndrome
Definition: This syndrome is caused by the presence of an extra sex
chromosome (XXY instead of XY)
Genetic disorder :
It is a numerical genetic
disorder also call trisomy
Genotype
The trisomy of sex
chromosome (2n+1), here one extra X chromosome- XXY, are present in males.
Chromosomal complement in somatic cell
47XXY
Phenotype:
. Affected individuals
are phenotypically male
Occurrence
1 in 1100 phenotypic
males.
Symptoms
1.
Enlarged
breasts, undeveloped penis and testicles associated azoospermia and sterility
2.
Length of
legs and arms are usually longer than normal
3.
Increase
gonadotropin levels
4.
Reduction
of chest hair, axillary and pubic hair
Cause
Advance maternal age
Cause of genetic disorder
Nondisjunction
Barr body
Male but barr body is
present due to presence of extra X chromosome
Treatment
Fertility
treatment.
Psychological
counselling.
Removal of
excess breast tissue.
Hormonal
Replacement Therapy.
Support and Educational evaluation.
Gonad
Testes
absent or less developed
Stature : long
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