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,