“We delight in the beauty of the butterfly, but rarely admit the changes it has gone through to
achieve that beauty”
What Causes Turner Syndrome?
Turner syndrome (TS) is the result of a chromosomal abnormality.
Usually, a person has 46 chromosomes in each cell, divided into 23 pairs, which includes two sex chromosomes. Half of the chromosomes are inherited from the father and the other half from the mother. A chromosome contains genes, which determine an individual’s characteristics, such as eye color and height. Girls typically have two X chromosomes (or XX), but girls with Turner syndrome have only one X chromosome or are missing part of one X chromosome.
Turner syndrome is not caused by anything the parents did or did not do. The disorder is a random error in cell division that happens when a parent’s reproductive cells are being formed.
Girls born with the X condition in only some of their cells have mosaic Turner syndrome. Often, their signs and symptoms are milder than those of other girls with the non-mosaic condition.
What Are the Signs & Symptoms of Turner Syndrome?
Most girls with Turner syndrome are shorter than their peers, with an average final adult height of 4 feet 7 inches and may have other related physical features.
These can include:
What Problems Can Happen?
Girls who have Turner syndrome don’t have typical ovarian development. They usually don’t develop
all the secondary sexual characteristics (the physical changes that usually happen in puberty) and are infertile (can’t become pregnant) as adults. However, advances in medical technology, including
hormonal therapy and in vitro fertilization, can help women with this condition.
Other health problems that may happen with TS include kidney and heart problems, high blood pressure, obesity, diabetes mellitus, thyroid problems, ear infections with decreased hearing, and altered bone development.
Girls with Turner syndrome usually have normal intelligence, but some may have learning problems, particularly in maths Many also struggle with tasks requiring spatial skills, such as map reading or visual organization. Hearing problems are more common in girls with TS.
They aren’t at increased risk for major psychological problems, but some girls do have problems with
body image or self-esteem, and some also might have ADHD. Despite these physical differences and other problems, with the right medical care, early intervention, and ongoing support, a girl with Turner syndrome can lead a normal, healthy, and productive life.
How Is Turner Syndrome Diagnosed?
During a physical exam, a doctor may look for the physical features of Turner syndrome. These can vary widely — some girls with TS have many features or symptoms; others have only a few.
To diagnose Turner syndrome, doctors use a special blood test that looks at chromosomes, called a Karyotype test (chromosomal analysis). Results that indicate TS show only one X chromosome instead of two X chromosomes, with a total of 45 chromosomes instead of the usual 46. Some girls with Turner syndrome have two X chromosomes detected, but one is missing a piece.
Before birth, the condition may be found through karyotype or noninvasive prenatal testing (NIPT).
NIPT is done on the fluid surrounding the fetus, tissue from the placenta, or the blood from the mother. But these tests are not definitive for diagnosis of Turner syndrome. After birth, doctors can make a diagnosis with a karyotype or with a microarray test from the baby.
How Is Turner Syndrome Treated?
Because TS is a chromosomal disorder, there’s no cure for the condition. Although several treatments can help:
Fertilized donor eggs are used to create embryos, which can be inserted into the uterus of a woman with TS. With the help of hormone treatment, the woman can carry a developing fetus to term.
Learning Differences
Early consultation with a developmental paediatrician and screening for cognitive issues may help girls with Turner syndrome who have learning problems. A special set of tests (called psychoeducational evaluation) can identify specific problems. A girl’s doctor can help decide whether this testing is right for her.
It’s important to assess a girl’s intellectual, learning, motor skills, and social maturity before kindergarten. If learning problems are found, early preventive and intervention strategies can help.
What Else Should I Know?
Girls with Turner syndrome might have specific medical problems and different physical characteristics. But you can help your daughter develop daily living skills and cope with new or challenging situations.
(Note: Height-related issues may be less important to girls who have improved growth with growth hormone treatment).
Turner syndrome can affect your Daughter in many ways, but it’s only a small part of who she is. If needed, get help and support from her doctor, developmental paediatrician, or other medical specialists and mental health providers.
I offer therapy for conditions relating to Turner Syndrome, individual or Mother and Daughter
sessions available.
Grey Matter Therapy is here to help you understand your history, recognize patterns in your life, resolve your inner conflicts, and live authentically.
Get In Touch
Av. Jose Da Costa Mealha
No. 15 + 17
Loule
8100-500
Grey Matter Therapy is here to help you understand your history, recognize patterns in your life, resolve your inner conflicts, and live authentically.
Get In Touch
Av. Jose Da Costa Mealha
No. 15 + 17
Loule
8100-500
Whoops! You cannot copy content of this page.