What is Turner Syndrome? What are the Causes, Symptoms and Treatment?

Turner syndrome is a genetic disorder that affects some women and girls. It can cause problems with hearing, vision and infertility, but usually does not harm intellectual abilities. Hormone medications can help overcome some problems. You can find more information below.

What is Turner syndrome?

Turner syndrome , a condition that only affects women, is a genetic disorder that occurs when one of the X chromosomes is missing or abnormal . This syndrome; It can cause various medical and developmental problems such as short stature, failure of the ovaries to develop and heart defects (structural and functional disorders).

The syndrome may be diagnosed before birth, in infancy, or in early childhood. Sometimes in people with mild signs and symptoms of Turner syndrome, the diagnosis process is delayed until the teen or adult years.

Girls and women with Turner syndrome need ongoing medical care from a variety of specialists. Regular checkups and proper care can help most girls and women lead healthy and independent lives.

What causes Turner syndrome?

Most people are born normally with two sex chromosomes. Men inherit the X chromosome from their mother and the Y chromosome from their father. Girls inherit one X chromosome from each parent. In girls with Turner syndrome, one copy of the X chromosome is inherited as a gene with a missing or structural defect.

The genetic changes of Turner syndrome can be one of the following types:

  • Monosomy:
    The complete absence of an X chromosome is usually caused by an error in the father’s sperm or the mother’s egg. This condition causes only one X chromosome in each cell in the body.
  • Mosaism:
    In some cases, in the early stages of fetal (foetal) development, an error in cell division occurs. This error causes some cells in the body to have two exact copies of the X chromosome. Other cells have only one copy of the X chromosome.
  • X chromosome abnormalities:
    Parts of one of the X chromosomes may be abnormal or missing. This error can result in one complete and one modified copy in all cells, whether in the sperm or the egg. Also, another anomaly may occur in cell division in early fetal development. Thus, only some cells have abnormal or missing parts of one of the X chromosomes.
  • Y chromosome material:
    In a small percentage of Turner syndrome cases, some cells have one copy of the X chromosome, while some cells have one copy of an X chromosome and some Y chromosome material. These individuals develop biological sex as female, but the presence of Y chromosome material increases the risk of developing a type of cancer called gonadoblastoma .

Effect of chromosomal errors

The X chromosome of Turner syndrome, which is missing or abnormal, causes errors during fetal development and other developmental problems after birth. E.g; such as short stature, ovarian failure (inability of the ovaries to function normally before age 40) and heart diseases. The physical characteristics and health complications resulting from chromosomal error vary widely.

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Who is at risk?

The loss or abnormal change of the X chromosome occurs randomly. Sometimes it is caused by a problem with the sperm or egg, while other times it occurs in the loss or replacement of the X chromosome, in its early stages during fetal (foetal) development.

Genetic predisposition in the family does not appear to be a risk factor. Therefore, parents of a child with Turner syndrome are less likely to have another child with the disease.

What are the symptoms of Turner syndrome?

The symptoms of Turner syndrome can vary between girls and women with the disorder. For some girls, the presence of Turner syndrome may not be obvious. But in other girls, some physical features and poor growth appear early. symptoms; It can be vague, develop slowly over time, or cause serious diseases such as heart disease.

prenatal symptoms

The diagnosis of Turner syndrome can be made based on the prenatal chromosomal scan or detected during the prenatal ultrasound examination, after necessary testing.

A prenatal ultrasound of a baby with Turner syndrome may show these signs:

  • Large collection of fluid or other abnormal accumulations of fluid in the back of the neck (edema)
  • heart anomalies
  • abnormal kidneys

Symptoms at birth and in infancy

Symptoms of Turner syndrome during birth or infancy may include:

  • a wide neck
  • low ears
  • wide chest
  • Arms that turn outward from the elbows
  • Narrow and pointed fingernails and toenails
  • swelling of the hands and feet, especially at birth
  • Slightly smaller on average at birth
  • slow growth
  • heart defects
  • small lower jaw
  • Short fingers and toes
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Symptoms in childhood, youth, and adulthood

The most common findings in almost all women and young girls with Turner syndrome are; It may have arisen at birth, gradually during childhood, adolescence or youth.

These signs and symptoms are listed below:

  • slow growth
  • Lack of growth tendency during childhood
  • Smaller than expected size
  • Failure to initiate expected sexual changes during puberty
  • Sexual development stalled at a young age
  • early menopause
  • Give kalamama

When should you see a doctor?

Sometimes it can be difficult to distinguish the signs and symptoms of Turner syndrome from other diseases. Prompt and accurate diagnosis is also important to receive appropriate care. If you have any concerns about physical or sexual development, you should consult your doctor.

How is Turner syndrome diagnosed?

Based on the signs and symptoms, the doctor; If your child is suspected of having this disease, a lab test will typically be done to analyze your child’s chromosomes . The test involves examining a blood sample. Also, sometimes your doctor may request a skin sample . Chromosome analysis determines if one of the X chromosomes is missing or abnormal.

prenatal diagnosis

Sometimes the diagnosis can be made during fetal development. Certain features in the ultrasound image may raise the suspicion that your baby has Turner syndrome or another genetic condition that affects development in the womb.

Prenatal screening tests that evaluate the baby’s DNA in the mother’s blood (antenatal cell-free DNA screening or non-harmful prenatal screening) may indicate an increased risk of the disease. However, it is recommended to perform a karyotype during pregnancy or after delivery to confirm the diagnosis .

Karyotype is the process of ordering the chromosomes in a cell according to a certain order after they have been paired as identical and double chromosomes.

Your doctor or obstetrician may ask if you would like to do additional tests to diagnose your baby before he or she is born. One of two procedures can be performed to perform prenatal testing for Turner syndrome:

  • Chorionic villus sampling (CVS):
    This test involves taking a small piece of tissue from the developing placenta. The placenta contains the same genetic material as the baby. Chorionic villus cells are sent to the genetics laboratory for chromosome studies.
  • Amniocentesis:
    In this test, a sample of amniotic fluid (the fluid that the baby is in) is taken from the womb. The fluid sample is sent to the genetics laboratory for examination of the baby’s chromosomes.

How is Turner syndrome treated?

Because symptoms and complications vary, treatments are tailored to address your child’s specific problems. Evaluation and monitoring of lifelong medical or mental health problems and addressing problems at an early age can help reduce the symptoms of the disease.

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The primary line of treatment for almost all girls and women with Turner syndrome includes hormone treatments. Hormonal treatments may include:

  1. Growth hormone: For most girls, growth hormone therapy is given gradually from early childhood to early teens. Starting treatment early can increase height and bone growth. For girls who are very short, the doctor may recommend oxandrolone in addition to growth hormone . Oxandrolone is a hormone that helps increase stature by increasing the body’s protein production and bone mineral density.
  2. Estrogen therapy: Most girls with Turner syndrome must begin estrogen and related hormone therapy to enter puberty. Usually estrogen therapy begins around the age of 11 or 12. The hormone estrogen helps support breast development and increase the volume of the uterus (womb). Estrogen aids bone mineralization and can also increase height when used with growth hormone. Estrogen therapy is usually continued throughout life, until the average age of menopause is reached.

Other treatments are tailored to address the specific problems your child needs. Regular check-ups have shown significant improvements in health and quality of life in girls and women with Turner syndrome.

Pregnancy and fertility treatment

Only a small percentage of women with Turner syndrome can get pregnant without fertility treatment.

Some women with Turner syndrome are able to get pregnant if they donate eggs or embryos. This condition requires hormone therapy specifically designed to prepare the individual for pregnancy. A reproductive endocrinologist (a specialist in hormones and endocrine diseases) can discuss options and assist in assessing the chances of success.

In most cases, women with Turner syndrome have relatively high-risk pregnancies. It is important to discuss these risks with an obstetrician or reproductive endocrinologist.

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