Turner Syndrome

What is Turner syndrome?

Turner syndrome is a chromosomal disorder that affects development in girls. It is caused by a missing or incomplete X chromosome. The genes affected are involved in growth and sexual development, which causes short stature and individuals with Turner syndrome may have premature ovarian failure. Many affected girls do not undergo puberty unless they are treated with the hormone estrogen.

About 30 percent of Turner syndrome patients have webbed neck (extra folds of skin on the neck), a low hairline at the back of the neck, puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, and/or kidney problems. Approximately 33%-50% of girls with Turner syndrome are born with a heart defect, such as Aortic coarctation (a narrowing of part of the aorta) or abnormalities of the aortic valve. Other problems associated with Turner syndrome can include obesity, diabetes and hypertension, and osteoporosis is common.

For more information on Turner syndrome please visit these sites:

eMedicine WebMD

Genetics Home Reference U.S. National Library of Medicine

GARD Genetic and Rare Diseases Information Center

Medicinenet.com MedicineNet, Inc

Mothers tell their stories...

I told her how sorry I was and that I loved her and did not want her to suffer. I would rather suffer every day for the rest of my life than to allow her to suffer one moment in life.

~Mom of an Angel

Everything was going great. As already having two "normal" pregnancies under my belt, I felt confident. I knew there was always that chance of hearing bad news but I said "no, not me, not our baby."

~A Heartbroken Mother

We felt that if our daughter had been in a car accident and was on life support with the same internal injuries, we would not keep her on life support and let her suffer. This child deserved the same dignity."

~ A grieving mom

I initially thought I would "be brave" and continue my pregnancy. But I came to realize that ultimately it wasn't about how strong I could be, how deeply I wanted this baby or what important lessons he could teach me. It was about what he would experience in his short life. Given his diagnosis, he would have known only suffering. As his mother, I couldn't allow that to happen.

~ A mother at peace

It was our ignorance for believing that all pregnancies led to a healthy baby. It was my arrogance for believing that since I had the best medical care, took prenatal vitamins even before and during my pregnancy, never took drugs, never smoked cigarettes and drank about half a glass of wine a year, that our baby would be safe.

~A bereaved mother

A mother will stop at nothing, including her own hurt, both mentally and physically, to protect her child.

~Brokenhearted Mother