2 Types of Turner Syndrome | Effect On Girls

Turner syndrome is a rare female-only genetic disorder that affects around one in every 2,500 baby girls. It is characterized by the partial or total loss of the second sex chromosome and is associated with growth problems and underdevelopment of the ovaries. There is no cure for this condition, but medication and therapies can be used to manage some of the symptoms.

What is Turner syndrome?

Turner syndrome also known as gonadal dysgenesis is a genetic disorder that affects only girls. Human beings generally have 23 pairs of chromosomes – a total of 46 chromosomes. One of these chromosome pairs dictates a person’s sex at birth. The condition occurs when one of the sex hormones is partial or missing. This chromosomal abnormality affects the growth and sexual development of girls with Turner syndrome, as well as causing a range of other difficulties.

Variations of Turner syndrome

There are two types of Turner syndrome:

1. Classic Gonadal Dysgenesis (Monosomy X chromosome), where there is only one X chromosome (girls should have two X chromosomes); one is completely missing.
2. Mosaic Gonadal Dysgenesis, where there is a partial loss of one X chromosome in most of the cells; in some cells, though, the second chromosome might be missing entirely. Occasionally, two X chromosomes exist in some cells of a female with mosaic Gonadal Dysgenesis.

What causes Turner syndrome?

The condition occurs randomly during conception. There is nothing you can do to reduce the risk of this happening. Scientists do not know why this condition occurs randomly. Maternal age is not a factor, and family history doesn’t increase your likelihood of having a daughter with Turner syndrome.

Some girls are given an early diagnosis because symptoms are present at birth. Potential symptoms present at birth are:

1. Swollen hands and feet caused by excess fluid
2. Thick neck tissue
3. Swollen neck
4. Lower-than-average height
5. Heart conditions
6. Kidney abnormalities.

Symptoms of Turner syndrome

There is a wide range of symptoms associated with this condition. Common symptoms are:

1. Shorter stature
2. Underdeveloped ovaries

Other varying symptoms are:

1. Recurrent ear infections and glue ear throughout childhood
2. Hearing loss, which can develop with age
3. Dental problems
4. Vision problems, including short-sightedness, a squint, a lazy eye and cataracts
5. Social problems
6. Learning difficulties.

Turner syndrome and growth

Children with this condition often exhibit normal growth until age three, when their growth slows. At puberty, the height difference between most girls with the condition and their peers increases. Women with untreated Turner syndrome might be significantly shorter than their peers. High-doses of hormone treatments can improve growth and reduce this difference by around 5 cm.

Does Turner syndrome effect infertility?

Turner syndrome is characterized by a missing sex chromosome. During puberty, ovaries start to produce estrogen and, later, progesterone. These hormones are the catalyst for a girl to start her menstrual periods. Girls with Turner syndrome do not produce enough of these hormones to trigger menstruation.

Girls with this condition might need hormone replacement therapy (HRT) to aid their sexual development. They are also likely to need help having a baby. Some women that carry the condition can conceive naturally.

Although infertility is common among girls with the syndrome, and they are likely to be infertile, the reproductive organs develop normally, allowing women who have the syndrome to have a normal sex life.

Infertility is common among women with the syndrome. Very few women with this condition can conceive naturally. Assisted conception, such as In Vitro Fertilization (IVF), can help women with Turner Syndrome to have a baby.

Turner syndrome facial features

Girls and women with the syndrome might have some of the following physical characteristics:

1. Eyes that droop downwards
2. Drooping eyelids
3. Low set ears
4. Low hairline.

Other physical features associated are:

1. A short fourth toe or finger
2. A short, wide neck
3. A broad chest
4. Widely spaced nipples
5. Lots of moles
6. Spoon-shaped nails.

How do you diagnose Turner syndrome?

Some girls make it through early childhood and into their teenage years without a diagnosis. Often, a doctor will diagnose Turner syndrome when a girl doesn’t show signs of the sexual development associated with normal puberty. Amniocentesis is a diagnostic test that can identify cases in utero.

To learn more about amniocentesis, look at BellyBelly’s article Amniocentesis: Definition, Risks And What To Expect.

It is possible to diagnose this condition during pregnancy. Some cases are diagnosed at a routine ultrasound scan if kidney or heart problems are identified. Lymphoedema causes swelling, which can also be visible on an ultrasound scan.

Other conditions associated with Turner syndrome

Women and girls born with Gonadal Dysgenesis can also be affected by associated conditions, including:

1. Heart murmur
2. Kidney and urinary tract problems
3. Hypothyroidism
4. High blood pressure
5. Osteoporosis
6. Obesity
7. Diabetes
8. Lymphedema
9. Digestive problems.

Learning difficulties associated with the condition

Women and girls with the condition are usually within the normal range for intelligence; they are, however, at increased risk of certain learning difficulties.
The following learning difficulties are associated:

1. Lower social intelligence
2. Dyscalculia (difficulties with numbers)
3. Spatial awareness problems
4. Attention and hyperactivity problems: these usually resolve by themselves by the teen years.

Is there a treatment for Turner syndrome?

There is no cure for this condition, though it is possible to treat some symptoms. Regular health checks can help girls and women with the syndrome to lead a healthy, normal life.

Depending on her symptoms, a child diagnosed is likely to have access to a team of medical specialists, including:

• A paediatric endocrinologist
• A psychologist
• A gynaecologist
• A kidney specialist
• An ear, nose and throat doctor
• A cardiologist.

Possible treatments are:

• Hormone Replacement Therapy (HRT) with estrogen. This begins at age 10 to 12, to encourage breast development. Estrogen also plays a vital role in bone and womb health
• HRT with progesterone. This begins three years after the start of estrogen treatment, to start menstruation
• Growth hormone therapy, to boost growth.

Turner syndrome and pregnancy

Women with Turner syndrome have an increased risk of complications during pregnancy. If you have this condition, it’s essential to inform your doctor when you discover you’re pregnant. You will be under the care of a heart specialist for the duration of your pregnancy. It’s also essential to choose an OBGYN who is experienced in high-risk pregnancies.

Turner syndrome and life expectancy

Sadly, women with the syndrome have a shorter than average life expectancy. According to a study published in the Journal of the American Heart Association, life expectancy was shorter for people with Turner syndrome, and heart problems were a common cause of death.

Regular health checks and early treatment for any health problems can help to improve life expectancy.

Can Turner syndrome be prevented?

No. There is nothing you can do to prevent Turner syndrome. It occurs randomly. If your baby is diagnosed with the condition, there isn’t anything you could have done to prevent it, and you shouldn’t blame yourself.

What to expect if your baby has Turner syndrome

The impact of Turner syndrome can vary wildly between individuals. It’s not possible to predict how your child will be affected. The best thing you can do is educate yourself about the condition so you are able to spot potential problems as they arise. It’s crucial to make sure your child has access to a team of specialists from birth. If your child has Turner syndrome diagnosed, you will be offered support to help you be an advocate for your child.