What is Turner’s syndrome (monosomy X)…what every parent of a baby should know [supervised by a physician].

Summary of this article

Turner syndrome is an intractable condition that occurs in 1 in 1,000 to 2,500 live births of girls and involves the loss of one X sex chromosome. Many girls born with Turner Syndrome in the abdomen have spontaneous abortions. Whether or not a child has Turner syndrome is determined during the mother’s pregnancy and is not acquired after birth. There is no cure for Turner syndrome, but symptoms can be treated or alleviated with symptomatic therapy.

The gender of the fetus is known at 10 weeks.

Knowledge of Turner Syndrome will change your baby’s life!

If the baby isn’t healthy and well…”

‘What diseases might a girl be born with?’

We will resolve these concerns.

This article describes Turner’s syndrome (monosomy X).
*Referred to as Turner’s syndrome hereafter.

The reason you need to know about Turner syndrome to solve your problems is because you know what you can do for your baby as a parent.

This article,

  • People who want to understand sex chromosome aberrations in a simple way.
  • Baby Parents-to-be.
  • People who want to understand Turner’s syndrome easily for the sake of their unborn baby.

This article is useful for
The majority of blogs on Turner syndrome require medical expertise.
This article does not require much basic medical knowledge to read.

Without knowledge of Turner’s syndrome, your child may suffer.
This is because, at the level of having never even heard of Turner’s Syndrome, there is no choice but to go to the hospital and treat the patient.

For example, Turner’s syndrome carries the risk of a variety of diseases.
Parents may be able to recognize this risk earlier and avoid it by having them undergo treatment.

With knowledge, you can reduce the risk of developing diseases and keep your child comfortable.

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Overview of Turner Syndrome

Many fetuses are intractable and spontaneously aborted.

An incurable disease that occurs in 1 in 1,000 to 2,500 live births of girls.

It occurs at an even higher frequency during the stage of the mother’s abdomen.
The majority of girls with Turner’s syndrome in the abdomen will have spontaneous abortions.

Whether or not a child will develop Turner’s syndrome is determined at the stage when the child is in the mother’s belly and is not acquired after birth.

Diseases of women and girls, depending on care, life expectancy is the same as healthy people.

Turner’s syndrome occurs only in women and girls; it does not occur in men or boys.

As described below, there are various characteristics and complications, but with treatment, a normal life is possible.

If they are treated, they will not need care or nursing.

However, we must always be vigilant for complications and have them undergo regular checkups and other tests.

There are many common names, but they all refer to Turner’s syndrome

In books, on the Internet, and in various media,

  • ts syndrome
  • Turner syndrome
  • Turner’s disease

The notation is “1.

All of the above are Turner’s syndrome.

Overview of Turner Syndrome

Characteristics and intellectual disabilities.

Here are some of the characteristics found in Turner’s syndrome.
If you have Turner’s syndrome, not all of the characteristics listed below will be present.

Some people have one, while others have multiple characteristics.

Characteristics (appearance, symptoms, etc.)


  • Drooping upper eyelid, droopy eyelid
  • Low hairline, low position of the hairline at the back of the head
  • Many moles
  • Poor nail development

Lymphedema and pterygium have been observed in addition to the features of


Lymphedema, swelling of the backs of the hands and feet.
Lymphatic fluid accumulation and swelling.
The swollen area feels heavy.
Swelling near the joints makes it difficult to turn the joints and affects quality of life (QOL).

Pterygoid neck

It is characterized by extra skin like wings on the neck, making the neck appear thicker.
It looks like a bodybuilder or a professional wrestler with a thick neck attached to a small body.


What are the characteristics of adolescents with Turner’s syndrome?

  • Short stature and obesity
  • Sagging at the back of the neck
  • No secondary sexual characteristics at puberty
  • infertility

If short and untreated, the average height is around 138 cm.

Absence of puberty is the phenomenon of not menstruating during the growth period; there are no changes in the breasts, vagina, or uterus.

The reason for infertility in Turner’s syndrome is that the ovaries are replaced by connective tissue.
This is called gonadal dysplasia, which indicates the lack of oocyte development.
Without an egg, conception is not possible.

Intellectual disabilities are rare, but attention deficit/hyperactivity disorder and learning disabilities have been identified

No abnormalities are found in intelligence tests of language skills.
However, as a learning disability, he has difficulty with visual information and spatial perception.
Specifically, many students have difficulty with mathematics.

Attention-deficit/hyperactivity disorder is a brain disorder known by the name ADHD.

ADHD is,

  • tending to lose one’s attention (e.g. to trivial matters)
  • Unable to concentrate on one thing.
  • show no interest in anything except what one is interested in


For example, an elementary school student cannot remain seated during class.

complications (in an illness)


Scoliosis is present in 10% of adolescents.
Scoliosis is a condition in which the spinal column is crooked.

When viewed from the front, the spine is straight, but with scoliosis, it is crooked on either side.

This gives the appearance of different shoulder blades and shoulder height.

The effects of daily life are said to cause pain and difficulty breathing due to pressure on the respiratory tract and nerves.

Osteoporosis and fractures

Osteoporosis is a condition in which the contents of bones become scabrous.

When the contents of the bone are scoured, the bone is weakened and easily fractures at the slightest provocation.

high blood pressure

Hypertension means high blood pressure.
Blood pressure is the force exerted on the inside of blood vessels.

The reason blood pressure should not be high is that it tends to wear out blood vessels.
In addition, high blood pressure is hard on the heart because the heart is pumping blood excessively.

By hypertension,

  • cerebral infarction
  • myocardial infarction
  • cerebral hemorrhage

This can lead to life-threatening diseases such as


Turner’s syndrome is characterized by a tendency to develop and repeat otitis media.
Repeated middle ear infections are said to increase the likelihood of hearing loss.

Kidney Abnormalities

In Turner’s syndrome, the shape of the kidneys has been observed to be different from that of the normal kidneys.
It is called renal malformation and is a cause of renal failure.


Diabetes is a condition in which the body has low or no insulin.
In addition, insulin does not work well in the body.

Insulin is responsible for lowering blood glucose levels.
Without insulin, blood glucose levels remain high.

Hyperglycemia causes various disorders in organs throughout the body,

  • heart disease
  • stroke
  • loss of eyesight
  • leg amputation

This can lead to serious diseases such as

developmental hip dysplasia

Baby’s hip joint is dislocated or unstable during development.
In addition, it also includes the process of hip joint failure.

It tends to appear in the baby stage, and in some cases, the baby may walk strangely or not be able to walk.

Aortic stenosis

Aortic stenosis is a condition in which the blood vessels leading out of the heart become narrower in the middle.

Some cases are asymptomatic until adolescence, but in severe cases, infants have been reported to have heart failure.
Aortic stenosis is characterized by a hypertensive state.
Hypertensive state is,

  • cerebral hemorrhage
  • cerebral infarction
  • myocardial infarction
  • heart failure

risk, and life expectancy tends to be shorter than that of healthy people.

malignant gonadal tumor

One type of cancer in children, Turner’s syndrome causes cancer of the ovaries.
Eventually, if it progresses, the cancer can spread to the pelvis or outside the pelvis, outside of the ovaries.

Autoimmune diseases of multiple organs

An autoimmune disease is a disease that attacks its own body.
The reason for the attack is that it perceives your body as foreign and tries to eliminate it.

In addition to Turner’s syndrome, other chromosomal abnormalities in combination can lead to the development of multi-organ autoimmune diseases.
Other chromosomal abnormalities are partial 2q monosomy and trisomy 10p.

celiac disease

It was reported that patients with celiac disease have Turner’s syndrome more frequently.

Celiac disease is a disease that causes inflammation of the intestinal mucosa when gluten is eaten.
Gluten is contained in wheat.
Typical foods are bread and pasta.

When the intestinal mucosa becomes inflamed,

  • diarrhea
  • Poor growth due to low nutrition
  • Constant feeling of fullness.
  • lose weight

symptoms have been identified.

Symptomatic treatment and prevention may lead to a normal life.

As of 2021, there is no cure for Turner’s syndrome.

This is because to cure Turner’s syndrome, the chromosomes themselves must be renewed.
No such treatment has yet been discovered.

However, it is possible to treat or alleviate symptoms manifested by Turner’s syndrome.

Typical symptomatic treatment

Symptomatic treatment does not solve the cause of the disease.
How to eliminate or loosen the symptoms manifested by a disease.
For example, taking painkillers to manage a headache caused by a cold is symptomatic treatment.

growth hormone therapy

Treatment for short stature is growth hormone therapy.
It is administered when Turner’s syndrome is diagnosed and short stature is observed.

With growth hormone treatment, the average height has been reported to be over 145 cm.

estrogen therapy

This treatment is designed to help the child to rub out puberty.
Estrogen is a female hormone, and its administration causes secondary sexual characteristics when puberty arrives.

Female secondary sexual characteristics are,

  • Breast development
  • Become more rounded.
  • Menarche (first menstruation)
  • Uterine development

According to the guidelines of the Pharmaceutical Affairs Committee of the Japan Pediatric Endocrine Society, patients who begin treatment at less than 12 years of age may be more prone to short stature.
Reference: Guidelines for Estrogen Replacement Therapy in Turner’s Syndrome

If short stature is observed, the preferred treatment is to balance the treatment with growth hormone therapy.

Treatment of Turner Syndrome

To conceive, egg donation

Women with Turner’s syndrome can rarely conceive.
The most probable way to conceive is through egg donation.

If you are looking at egg donation, there is a possibility of having growth hormone or estrogen therapy.
This is because the body is designed to withstand pregnancy and childbirth.

In Turner’s syndrome, growth hormone and estrogen therapy cannot treat infertility.

However, without short stature and uterine development, the body will not be able to endure childbirth and pregnancy.

If egg donation is a possibility, growth hormone and estrogen therapy will be necessary to bring the body closer to fertility.

Regular checkups prevent complications.

The quality of life (QOL) of your child depends on how well you, the parent, are able to cope with your child.
This is because complications can only be tested for and prevented until they develop.

For example, lifestyle considerations can prevent diabetes.
Developmental hip dysplasia can be cured without surgery if detected early.
Regular checkups and hospital visits can detect diseases at an early stage.

You want to start treatment before the child suffers.

Why does it happen? Because there is only one sex chromosome.

Sex chromosomes are sex-determining chromosomes

A sex chromosome is one of the chromosomes of an organism.

Chromosomes are the places where information about the substances that make up living organisms is located.
Based on this information, the substances that make up human beings are created.

Sex chromosomes are the chromosomes that determine sex (male or female).

There are two types of sex chromosomes, the X chromosome (hereinafter referred to as “X”) and the Y chromosome (hereinafter referred to as “Y”), and the sex of a child is determined by how the X and Y chromosomes are combined.

  • XX is female
  • XY is male
  • YY does not exist.
Diseases that can be detected by NIPT
Explore the capabilities of Non-Invasive Prenatal Testing (NIPT) at Hiro Clinic. Our advanced diagnostics cover a spectr...

Turner’s syndrome is caused by monosomy X

This is because the monosomy X condition lacks substances necessary for the human body.
As a result, symptoms and features of Turner’s syndrome appear in the body.

Monosomy X is a condition in which one X sex chromosome is lost.
Normally, a woman’s sex chromosome is considered XX, with two X’s.
However, there are cases where one X is lost due to an anomaly.

For example, a bicycle has two basic tires.
If the rear tire were to disappear, a problem would occur.
The same is true for sex chromosomes; the loss of one of the two can have a variety of effects on a woman’s body.

Turner syndrome is not necessarily inherited.

This is because Turner syndrome is a sex chromosome abnormality that occurs by chance.

Suppose a woman with Turner syndrome becomes pregnant due to egg donation.
The likelihood that their offspring will also have Turner syndrome is very low.

In other words, a baby with Turner syndrome can be born even if the parents do not have a chromosomal abnormality.
Unhealthy parents or older births are not causes of Turner’s syndrome.

Diagnostic methods and departments

What department of the hospital should be consulted depends on the age of the patient and who is examining him or her.

If you are a prenatal mother, a clinic that does prenatal diagnosis, or an OB/GYN or genetic clinic.
For children, it is pediatrics, but after the age of 15, internal medicine is generally consulted.

Diagnosis of Turner Syndrome

If a characteristic appearance (lymphedema, pterygium, etc.) is identified, Turner’s syndrome is suspected.
In some cases, if it is not apparent, it may not be suspected until puberty when the period does not occur.

After suspecting the appearance of the disease, a chromosome test is performed to confirm the presence of chromosomal abnormalities in the diagnosis.
What is done by the person being tested is a blood draw.

Turner syndrome is diagnosed when one or more of the chromosomal abnormalities and characteristic symptoms are present.

Then, check for any cardiac abnormalities.
Echocardiography and cardiac MRI.

If you want to know before the birth, NIPT (new prenatal diagnosis)

To find out for sure if a girl has Turner’s syndrome before delivery, you can do a test to estimate the number of sex chromosomes.

NIPT is a new type of prenatal diagnosis
A diagnostic system that reveals the baby’s gender and genetic status while the baby is still in the mother’s belly.
This test meets the needs of those who want to make careful preparations as parents for their unborn baby.

World-class NIPT
Experience unparalleled excellence in Non-Invasive Prenatal Testing (NIPT) at Hiro Clinic. Our world-class services blen...


Article Editorial Supervisor

Dr Hiroshi Oka

Dr Hiroshi Oka

NIPT specialist clinic, MD

Graduated from Keio University, School of Medicine


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