Turner Syndrome – Symptoms and Causes
Understanding Turner Syndrome
Turner syndrome affects females when one X chromosome is missing or incomplete. This genetic condition requires care from many specialists.
Most girls and women can live healthy lives with regular checkups and proper treatments. Early diagnosis allows for better management of symptoms like short stature and ovarian failure.
Signs and Symptoms
Before a Baby is Born
Some signs of Turner syndrome can appear before birth. Doctors might suspect this condition during pregnancy through blood tests or ultrasound images.
An ultrasound might show:
- Large fluid buildup on the baby’s neck
- Heart problems
- Kidney abnormalities
These early signs help doctors prepare for any special care the baby might need after birth.
During Infancy
Babies with Turner syndrome may show several physical traits, including:
| Physical Features | Additional Signs |
|---|---|
| Wide or webbed neck | Swollen hands and feet |
| Low-positioned ears | Slightly shorter length at birth |
| Broad chest with widely spaced nipples | Slower growth rate |
| High, narrow roof of mouth | Heart defects |
| Arms that turn outward at elbows | Low hairline at back of head |
| Narrow, upturned fingernails and toenails | Small or receding lower jaw |
| Short fingers and toes |
Not all babies will show all these signs, and some may have very subtle features that aren’t noticed right away.
Throughout Childhood and Beyond
As girls with Turner syndrome grow, two main issues typically appear:
-
Short height: Girls may:
- Grow more slowly than peers
- Miss expected growth spurts
- Reach an adult height shorter than other family members
-
Ovarian issues: The ovaries may not develop properly, leading to:
- Delayed or absent puberty
- Incomplete development of secondary sexual characteristics
- Early end to menstrual periods
- Fertility challenges
Most women with Turner syndrome need fertility treatments to have children.
Ovarian problems can appear at birth, while others may develop during the teenage years or young adulthood.
The severity of symptoms differs greatly from person to person. Some individuals have mild signs that go unnoticed for years, while others need medical care early in life.
When to see a doctor
It can be hard to tell the difference between Turner syndrome and other health problems. If you think someone might have Turner syndrome, visit a doctor soon.
Your doctor might send you to see specialists who can help more. These could include:
- A genetics specialist
- A hormone doctor (endocrinologist)
These experts can perform proper tests and create treatment plans for the specific needs of someone with Turner syndrome.
Why Chromosomal Changes Happen
Turner syndrome occurs when a female is born with one X chromosome missing, partly missing, or changed. Most people have two sex chromosomes.
Boys get an X from mom and a Y from dad. Girls get an X from each parent. Girls with Turner syndrome have a problem with one of their X chromosomes.
There are different types of genetic changes that can cause Turner syndrome:
Complete Missing X: The entire X chromosome is absent. This happens because of a mistake when the egg or sperm forms. Every cell in the body ends up with just one X chromosome.
Mixed Cell Types: Sometimes a mistake happens during early growth in the womb. This leads to some body cells having two X chromosomes while others have only one. Doctors call this “mosaicism.”
Partial X Changes: Parts of one X chromosome might be missing or changed. This can happen in all cells or just some cells.
X Plus Y Material: In rare cases, some cells have one X chromosome while others have one X plus some Y chromosome material. Although these individuals develop as females, they have a higher risk of developing a rare tumor called gonadoblastoma.
When the X chromosome is missing or changed, it affects how a baby grows in the womb. It also causes health issues after birth. These often include:
- Short height
- Ovaries that don’t work properly
- Heart problems
The effects vary greatly from person to person. Some girls and women have mild symptoms, while others face more serious health challenges. The specific type of chromosomal change often affects what health issues a person might have.
Doctors can now test for these chromosome changes before birth or shortly after.
Risk Factors
Turner syndrome occurs by random chance. The X chromosome may be lost or changed in either the sperm or egg before pregnancy starts. It can also happen early as the baby grows in the womb.
Parents who have one child with Turner syndrome are not more likely to have another child with this condition. Family history does not increase the risk of Turner syndrome.
Health Complications
Turner syndrome affects different body systems and can lead to various health issues. The severity of these problems varies from person to person.
Heart Issues
People with Turner syndrome often have heart defects or structural abnormalities that increase their risk of serious complications.
Problems with the aorta (the main blood vessel carrying oxygen-rich blood from the heart) are common.
High blood pressure is also more frequent, which can lead to heart and blood vessel diseases.
Sensory Problems
- Hearing loss occurs frequently, either from nerve function decline or frequent middle ear infections
- Vision problems like weak eye muscle control (strabismus) and nearsightedness may develop
Kidney Abnormalities
Malformed kidneys don’t usually cause medical problems but may increase the risk of urinary tract infections.
Autoimmune Disorders
Turner syndrome raises the risk of several autoimmune conditions:
- Underactive thyroid (hypothyroidism) from Hashimoto’s thyroiditis
- Diabetes
- Gluten intolerance (celiac disease)
- Inflammatory bowel disease
Bone and Growth Issues
The syndrome can affect bone development, leading to:
- Abnormal spine curvature (scoliosis)
- Forward rounding of the upper back (kyphosis)
- Increased risk of weak, brittle bones (osteoporosis)
Cognitive and Mental Health Challenges
While intelligence is typically normal, Turner syndrome may cause:
- Learning disabilities, especially with spatial concepts, math, memory and attention
- Social functioning difficulties
- Anxiety and depression
- Possible attention-deficit/hyperactivity disorder (ADHD)
Fertility and Pregnancy Concerns
Most women with Turner syndrome are infertile.
A very small number may become pregnant naturally, and some can conceive with fertility treatments.
Women who do become pregnant face higher risks of complications, including high blood pressure and aortic dissection.
They should be evaluated by heart specialists and high-risk pregnancy doctors before attempting pregnancy.
