Every mother wants to give birth to a happy, healthy baby. There are such a wide range of factors which go into ultimately deciding the birth state of your child that it can sometimes feel like an overwhelming proposition, to be sure. Thankfully, as time has pressed on these happy, health (and safe) births have become the rule, rather than the exception. Even so, however, we have a long way to go yet, and chromosomal conditions are some of the trickiest out there in terms of solving and treating.
Dealing with Turner Syndrome—or raising a child with Turner Syndrome—can be a challenge, but it’s a highly worthwhile one, to be sure. Here, then is some basic information on what Turner Syndrome is as well as the nature of the condition.
1. Definition: It can be difficult knowing where to begin when first encountering something as ominous as Turner Syndrome can be. That being said, one of the marks of a truly great writer is his or her ability to be applicable in a variety of situations while remaining timeless—and Lewis Carroll was certainly a great writer.Alice in Wonderland is full of intriguing metaphors and symbolism, and contains a timeless, precious piece of advice—“Begin at the beginning…and go on till you come to the end: then stop.” It’s all to appropriate to begin at the beginning when discussing Turner Syndrome, as, if you happen to have it, it’s something you have from the very beginning of life, namely, a chromosomal disorder. All sufferers of Turner Syndrome are women, as Turner Syndrome involves having only one chromosome, and naturally that would be the X chromosome (as living with only a Y chromosome is impossible.) As complex living organisms generally require a complete pair of chromosomes—XX or XY, depending on their gender—having only one chromosome is a challenge would be an understatement. While roughly 15 out of every 1,000 pregnancies are suspected to be a case of Turner Syndrome, it is estimated that nearly all these pregnancies end prematurely, often via miscarriage. Thus, Turner Syndrome Women are extremely rare.
2. Causes: The overarching cause of Turner Syndrome is still largely unknown. However, as stated, the more direct cause of Turner Syndrome is the lack of a complete pair of sex-determining chromosomes in a girl. This may be due to abnormalities, such as nondisjunction and other problems.
3. Statistics: It is estimated that than more than nine out of every ten fetuses conceived with Turner Syndrome do not the pregnancy, with many of these failing to survive the first trimester. In addition, roughly 50% of Turner Syndrome patients present with some form of mosaicism, that is, presenting two different genotypes. This can be innocuous in slight cases—such as having two differently-colored eyes—but can involve far more serious karyotype-related problems as well. More than seven in ten patients are also likely to present with symptoms which suggest nondisjunction and a loss of the paternal chromosome (hence the lack of a secondary X or a Y.) Roughly a third of the patients diagnosed with the condition receive their singular chromosome in a damaged state; this is often due to a variety of paternal-related matters, and the age of a parent at the time of conception could be a factor.
4. Characteristics: There are several general phenotypic characteristics of a person with Turner Syndrome. To begin with, they tend to be somewhat shorter in stature than their peers and fall below the average height for a human being. They may also have a lower hairline as well as folds in their skin. Short fingernails, widely-spaced nipples, less breast development, and in some cases, brown spots on the skin can all be potential phenotypic markers. In addition, patients do not menstruate, and may have rudimentary ovaries as well as a constricted aorta.
5. Symptoms: Often, hospitals will, upon request, take a look at your child’s chromosomes for the purpose of ensuring that there isn’t a chromosomal problem and, if there is one, such as Turner Syndrome, helping you to prepare to treat and help your child. Webbed toes, as well as the other aforementioned phenotypic markers, can help you determine if your child has Turner Syndrome. In the case of your child’s IQ, the average range for Turner Syndrome patients is between 70-120. That being said, your child can still function and think for herself. Speech is generally not affected or impaired to a great extent. However, it is worth mentioning that there are some cases in which motor deficiency has been reported and, as such, this may pose something of a concern for you and your child going forward. Even so, with proper therapy, injections of growth hormone and estrogen, your child can still mature and enjoy a largely-normal, happy life.