What is Turner Syndrome

Turner's Syndrome is one of the more common genetic conditions, affecting approximately 1/2500 women and girls.

In a normal female, there are two X chromosomes, the sex chromosomes (Males have one X and one Y chromosome). However, in females with Turner's Syndrome, one of the X chromosomes is missing, misshapen, incomplete, or otherwise messed up. Some women's DNA is further complicated by having some XY representation.

I have Mosaic Turner's Syndrome. This means that some of my cells have both X chromosomes as they should, and some have only one X chromosome. My karotype is 45X (4) 46XX (26). This means that of the thirty cells (blood cells) that they analyzed, 26 were normal, and 4 were missing one X chromosome.

Every woman is affected by Turner's Syndrome differently. The most common problem that girls with Turner's Syndrome face is short stature. In my case, I am 22 years old, but 4'9 and 86 pounds on a 'heavy' day. Girls are typically normal height and weight at birth, and often grow normally for the first few months of life, after which time their growth curve slows down. It is not at all uncommon for girls to completely fall off normal growth charts. Girls who are diagnosed with Turner's Syndrome in childhood are usually treated with growth hormone. Growth hormone in many cases can help make up some of the lost height, particularly if it is started early-even as young as 1-2 years of age. Unfortunately, I was not diagnosed until I was 22 years old, and thus, growth hormones were of no help. The reason why we are short? The SHOX gene is very responsible for growth, especially of the long bones, and is present on the X and Y chromosomes. When you're missing some of your X chromosomes, you are therefore missing some copies of your SHOX gene. We also can have other distinguishing features such as short fourth and fifth metacarpal bones (in the hands and feet), an increased risk of scoliosis, and a broader chest. I have short fourth and fifth metacarpal bones, and my left shoulder is higher than my right, but I escaped scoliosis fortunately!

Other common problems are left-sided heart problems. The two most common conditions with Turner's Syndrome are a bicuspid aortic valve, and coarctation of the aorta. It is estimated that up to 50% of girls with Turner's Syndrome will have one or more heart defects. In my case, I have a bicuspid aortic valve, along with some slightly small measurements of some of the major veins and arteries-including my aorta. This leads me to suspect that I may have had a minor degree of coarctation as well, which has been corrected by the stress that my now slightly-malfunctioning bicuspid aortic valve presents. Even when no apparent heart problem is present, it has been found that women with Turner's are at an increased risk for idiopathic high blood pressure (no known cause), and aortic rupture. Any of these can be life threatening.

Kidney problems may be present in girls with Turner's Syndrome, including a horseshoe kidney (both kidneys are fused together into one, in the shape of a horseshoe), and an abnormal collection system. Although these can cause an increased risk for kidney stones and infections, severe kidney problems are not very common. My blood tests are normal, however, I have an increased need for fluids, and am waiting on my renal ultrasound which will tell if I have any of the typical Turner's kidney issues.

Infertility is the most heartbreaking part of Turner's Syndrome. Due to missing some of our X material, most girls will not develop normally through puberty without hormonal help. Most women have ovaries that are either streak or otherwise do not function properly. In women like me, who did develop through puberty without help, early menopause is a VERY strong possibility. I do not yet know the status of my reproductive organs, that will come with the pelvic ultrasound next week. Depending on their specific karotype, some women with Turner's will have to have their streak ovaries/gonads removed, as there is an increased risk of a particular type of cancer. Some women are able to have children naturally, but this is not very common. Among those who are able to get pregnant, miscarriage risk is much greater than that of the normal population. New medical technology such as IVF, donor eggs, surrogates, and egg freezing are allowing more of us to become mothers physically. Adoption is also an option, but the cost can be prohibitive.

Other common issues that girls with Turner's face include an increased risk for ear infections, or a harder time clearing up an ear infection. I have not had many ear infections, but have had some issues with my ears such as pretty bad pain when flying, and in the times that I have had an ear infection-the infection will clear, but the fluid will not as quickly as would be ideal. This has also happened with more than one cold. Hearing problems are common, and can begin during childhood. In some cases, the ears may also be lower set or have a 'cupped' appearance. Hearing aides can help correct most hearing problems present.

Girls may have some eye issues including far-sightedness, or strabismus. I am very very NEAR-sighted, so we're not sure whether this is connected to my Turner's diagnosis or not. Glasses and/or surgery can generally help correct any eye problems associated with Turner's syndrome. Later on in life, cataracts are more common.

Women with Turner's Syndrome may have digestive issues. These can begin early in childhood, including feeding difficulties in infancy. This is perhaps true in my case-I had mild colic for several months, and took FOREVER to decide that solid food was worth trying. I have always had a very sensitive stomach, and ANY little stomach bug would seem to hit me, although I avoided most other childhood illnesses. Currently, I have delayed gastric emptying, chronic mild-moderate constipation, and food restrictions. I am somewhat lactose intolerant, have difficulties tolerating acid or spice until late in the day (an apple or bowl of chili could give me a four-hour long stomachache if not worse) and went vegetarian in part because meat just wasn't working for me. Blood work can show elevated liver functions, however, this is usually not serious, but is one aspect that is less known. Celiac disease is one of the most common gastric issues that those with Turner's can have. I do not feel that this is an issue for me, as wheat bran is one of the only things that can clear up certain issues, and cereals are at times the only thing my stomach will tolerate. Cheerios have been a lifesaver at times. 

Other issues that those with Turner's Syndrome may face include thyroid issues (hypothyroidism-Hashimoto's thyroiditis), earlier onset of arthritis, an increased risk for both type 1 and type 2 diabetes, eczema or dry skin, osteoporosis (due to not having appropriate levels of estrogen), edema (puffy hands and feet-I had puffy feet at birth, but it was not diagnosed as such), and dental problems including thinner enamel and palate issues. I seem to have slightly thinner enamel, and have stains that really don't make sense. Fortunately, I was blessed with straight teeth and had an uncomplicated wisdom tooth extraction (all 4!) despite all four being impacted in one way or another.

One of the largest myths about Turner's Syndrome is that girls with Turner's are retarded. This is FALSE. However, we can have some difficulties with certain things. Issues with math are more common, but do not affect everyone. I took calculus in high school! I do seem to have visual-spatial challenges, which has meant that I have never managed to learn how to drive and feel safe doing so, and that I have poor coordination with some things-such as dancing, using a hockey stick (just ask my grade nine gym teacher about that one), kicking a ball, swinging a baseball bat. Needless to say, in combination with my height and tiny body frame, the lack of coordination meant that gym class was my least favourite course. Some of us can have difficulties with social skills, and there may be an increased risk for ADHD/ADD, autism, and other issues. I have carried diagnoses of OCD (obsessive compulsive disorder), GAD (generalized anxiety disorder), MDD (major depressive disorder) and ED-NOS (Eating Disorder Not Otherwise Specified) for some time now. Anxiety, mood disorders, and eating disorders are more common among those with Turner's than those in the general population. My sister, the social worker, has always said that I've been slightly 'strange'. Now, whether this is a true social worker notice or merely sisterly love (!!) I don't know. However, I did experience bullying in childhood and am very much an introvert. It's very common for women with Turner's to choose a career working with children. This is definitely the case with me-I have worked in the daycare system for my summer jobs, and am making a career out of teaching Music for Young Children, and am looking to train to teach Suzuki flute, possibly studying music therapy which might or might not involve working with children. To be honest, our feeling of increased comfort with children is a cruel pill because most of us cannot have children of our own. We are less likely to marry, and more likely to live at home longer, although the reasons for these are not fully understood. I am 22, almost 23 but I have never gone on a date, and do still live with my dad.

Turner's can be diagnosed at any point in life-prenatally through amniocentesis (upon getting an abnormal-elevated-AFP blood test, which my mom did have although my parents were never told about the possibility of Turner's), at birth upon observing coarctation of the aorta, edema, or distinguishing physical features such as a webbed neck or the ear issues mentioned above, in childhood upon observing poor unexplained growth, in adolesence when puberty doesn't start normally, or in adulthood for any number of reasons including early menopause, trouble conceiving or maintaining pregnancy, the discovery of specific heart issues, or even other issues. When I was diagnosed, the geneticist said that he is now diagnosing more adult women then small children with Turner's! He recently diagnosed a woman in her 70's who was referred because of severe osteoporosis. I was referred upon discovery of my bicuspid aortic valve in February of last year. I will always be grateful to the astute internal medicine doctor who got curious about my short stature, finally taking seriously something that should have been investigated by the time I was two years old! It cannot be cured, but the different problems can generally be treated and managed-ex, if I develop hypothyroidism, then I can be treated with thyroid hormones. I will at some point almost certainly have to go on HRT (hormone replacement therapy), and I will very likely need heart surgery to fix or replace my valve.

So that's Turner's Syndrome. Each of us are different. Only about 1-2% of Turner's girls survive to a full term pregnancy...and that number is decreasing. Why? Because amniocentesis is diagnosing more girls with Turner's, and parents are turning to what is called "Termination for Medical Reasons". Out of all the things that can get me MAD, it's when I read about someone terminating a girl with Turner's syndrome. One case in particular got my blood BOILING. The girl had mosaic Turner's syndrome-only 10% of her cells were abnormal. Her ultrasound and the fetal echocardiogram were NORMAL. In other words, this little girl was MORE NORMAL THAN ME. Now that is just plain SCARY. Turner's is NOT a death sentence. Women with Turner's are fully functional members of society. You usually cannot tell that someone has Turner's just by looking at them. We have NORMAL intelligence, get married, can be parents, have jobs, and love life! Sometimes we have problems, but that doesn't mean that it's bad! Every time I hear my students say "Hi Miss A!" all excitedly, or see the pride on my dad's face when he hears me play, or finds out that I got another A on a paper or exam, or finish a prayer shawl or baby blanket, or think about my childhood with my sister...I know that I have a purpose here. A purpose that every girl with Turner's deserves a chance to experience.