A disorder caused by a chromosomal abnormality that only affects females. The abnormality may arise in 1 of 3 ways: affected females may have only 1 X chromosome instead of 2; they may have 1 normal and 1 defective X chromosome; or they may have a mixture of cells (see mosaicism), in which some of the cells are missing an X chromosome, some have extra chromosomes, and others have the normal complement of chromosomes. Turner’s syndrome causes short stature; webbing of the skin of the neck; absence or retarded development of sexual characteristics; amenorrhea, coarctation of the aorta, and abnormalities of the eyes and bones. Treatment with growth hormone from infancy helps girls with Turner’s syndrome to achieve near normal height. Coarctation of the aorta is treated surgically. Treatment with oestrogen drugs induces menstruation, but it does not make affected girls fertile.
Turner’s syndrome |
|
|