Re: is turner syndrome noticeable at birth?

The short answer to this question is YES -- maybe. Some girls with Turner syndrome have excess skin folds around the neck and puffy hands and feet at birth. But this puffiness often disappears during infancy and the extra neck skin becomes less noticeable. So then these possible signs at birth are not conclusive. But genetic analysis is most often conclusive (more about this below). Moreover, aside from Turner syndrome, there are many causes for a child growing slowly. These include: hereditary factors (naturally short parents and grandparents), diseases affecting the kidneys; heart, lungs or intestines; hormone imbalances; severe stress or emotional deprivation and poor nutrition; infections in the womb before birth; bone diseases; and a variety of genetic or chromosomal abnormalities. Chromosomal abnormalities cause Turner syndrome.

In 1938, Dr. Henry Turner recognized and then reported a pattern of short stature and incomplete sexual maturation in otherwise normal females. The common name for this condition is Turner syndrome, after Dr. Turner. A syndrome is a set of features often found in association with each other and believed to stem from the same cause.

Turner syndrome is a genetic disorder that results from an abnormality of a chromosome. Everyone has 22 pairs of chromosomes and 1 pair of sex chromosomes (called X and Y ). The X and Y chromosomes determine that an individual is male or female; they influence height as well as development of sex organs.

Metaphases (from peripheral blood lymphocyte culture) contain XY sex chromosomes and XXY sex chromosomes (mosaicism with bilateral cryptorchidism). Arrows point to the sex chromosomes.

In Turner syndrome, one of the X chromosomes is missing or misshapen in most of the cells in the body. The reason for this total or partial loss of the chromosome usually cannot be found, but the loss occurs soon after the baby is conceived. There is nothing either parent can do to prevent this from happening; it is a biological accident for which no one is responsible.

Girls with Turner syndrome are shorter than their peers and reach an average adult height of 4 feet 8 inches, although a few women may reach or exceed 5 feet in height. 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. Kidney, heart, thyroid and skeletal problems are more common in females with Turner syndrome than in the rest of the population. However, few women with Turner syndrome exhibit all of these features; some have only undeveloped ovaries and short stature, with none of the other physical findings or problems.

Girls with several of the characteristic features of Turner syndrome can be diagnosed during infancy or early in childhood. Girls without any of the obvious features may not come to a physician's attention until they or their parents express concern about abnormally slow growth or lack of sexual development. All girls who are very short for their age or who grow less than two inches per year should be examined by a physician.

Even though a physician may suspect the diagnosis on the basis of a physical exam, a laboratory test is needed to confirm it. The most coomon test for diagnosing Turner syndrome is called a karyotype. A small blood sample is sent to a laboratory where highly trained geneticists separate the chromosomes in the white blood cells. Then using a powerful microscope they count (and photograph) the chromosomes, examining them carefully for abnormalities. This is a very highly skilled and tedious task, and it can only be done in laboratories with highly trained, experienced personnel. The diagnosis is confirmed if only one X chromosome is present in some or all of the cells examined, or if 2 X chromosomes are present, but one is characteristically misshapen.

Those wishing to get more information about Turner's syndrome should contact:

TURNER SYNDROME SOCIETY 14450 TC Jester, Suite 260, Houston TX 77014

Toll Free 800-365-9944; P: 832-249-9988; F: 832-249-9987