Turner Syndrome

There are many possible reasons why a child may grow slowly, including:

hereditary factors (short parents), diseases affecting the kidneys; heart,

lungs or intestines; hormone imbalances; severe stress or emotional

deprivation; infections in the womb before birth; bone diseases; and

genetic or chromosomal abnormalities.

The Turner Syndrome (known as Ullrich-Turner Syndrome in Germany) is a

congenital disease. A German doctor named Ullrich published his article in

1930. American doctor Henry Turner recognized a pattern of short stature

and incomplete sexual maturation in otherwise normal females. He published

a comprehensive medical description of the syndrome. It was not until 1959,

that it became clear the syndrome was due to lack of sex chromosome

material. Turner's Syndrome is a rare chromosomal disorder that affects

one in approximately 2,500 females. Females normally have two X-

chromosomes. However, in those with Turner's Syndrome, one X chromosome is

absent or is damaged.

OTHER NAMES Depending on the doctor, Turner's Syndrome may be diagnosed

with one of the following alternative names: 45 - X Syndrome, Bonnevie-

Ulrich Syndrome, Chromosome X, Monosomy X, Morgagni-Turner-Albright

Syndrome, Ovarian Dwarfism, Turner Type, among others.

SYNDROME CHARACTERISTICS A reduced growth in height is the commonest

visible characteristic of the syndrome, (the average adult height is 4

feet 8 inches) and may be the only sign before puberty. Their body

proportions are normal. Girls with this syndrome may have many middle ear

infections during childhood; if not treated, these chronic infections

could cause hearing loss. Up to the age of about 2 years, growth in height

is approximately normal, but then it lags behind that of other girls.

Greatly reduced growth in height of a female child should lead to a

chromosome test if no diagnosis has already been made. Early diagnosis is

very importance in order to be able to give enough correct information to

the parents, and gradually to the child herself, so that she has the best

possibilities for development. Early diagnosis is also important in case

surgical treatment of the congenital heart defect (seen in about 20 per

cent of cases) is indicated. The commonest defect is a narrowing of the

main artery from the heart aortic coarctation. A regular ultrasound

examination of the heart is recommended in all girls with Turner syndrome.

This type of heart defect is present at birth and can be corrected

surgically. If not present at birth, it does not develop later in life.

The lack of sexual development at puberty is the second most common

characteristic. Having abnormal chromosomes does not mean that girls with

Turner syndrome are not really female; they are women with a condition

that causes short stature and poorly developed ovaries. Affected females

may also exhibit the following symptoms: infertility, kidney abnormalities,

thyroid disease, heart disease, abnormalities of the eyes and bones,

webbed neck, low hairline, drooping of eyelids, abnormal bone development,

absent or retarded development of physical features that normally appear

at puberty, decrease of tears when crying, simian crease (a single crease

in the palm), a "caved-in"