Turner syndrome: symptoms, causes, to treatment

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Definition

What is Turner syndrome?

Turner syndrome or Turner syndrome is a genetic disorder associated with chromosomal defects. Chromosomes are genes that make DNA. Thus, chromosomes play an important role in transmission, recording genetic structure at the cellular level.

The combination of chromosomes in the cell is unique to each person and this determines the development of each person. Chromosome defection results in a variety of symptoms; it may be mild or severe.

Each person has 23 pairs of chromosomes, including the 23rd chromosome that determines sex (XY in males and XX in females). In Turner syndrome, the defect occurs on the X chromosome. A condition similar to Turner's syndrome is Klinefeltersel t syndrome, which is when a man has an excess of the X chromosome.

How common is this condition?

Turner syndrome affects only women, who are deficient in some or missing all of the X chromosomes needed in women.

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

Signs & symptoms

What are the signs and symptoms of Turner syndrome?

Signs and symptoms of Turner syndrome may vary among women with the disorder. In some girls, the presence of this syndrome may not be visible, but in other girls, some physical form and growth abnormalities are seen early.

Signs and symptoms can appear very subtle, develop slowly over time, or be significant, such as a heart defect.

Quoted from the Mayo Clinic, signs and symptoms of Turner syndrome are:

Before birth

Turner syndrome can be detected before birth based on prenatal cell DNA screening, a method for screening for certain chromosomal abnormalities in a developing baby using a mother's blood sample, or prenatal ultrasound.

The symptoms that a baby with Turner syndrome exhibits on a prenatal ultrasound are:

• Fluid collection in the back or other abnormal fluid collection (edema)
• Heart defects
• Abnormal kidneys.

From birth to toddlerhood

Babies with Turner syndrome often develop slowly and have digestive problems. Uncommon physical manifestations, including short, dwarf neck creases, flat chest, large or low ears, or hairline under the nape.

In addition, the symptoms that appear in babies with Turner syndrome are:

• Wide chest with a wide nipple distance from one another
• Narrow palate
• The arm that extends outside the elbow
• The nails of the hands and toes are narrow and point upward
• Swelling of the hands and feet, especially at birth
• Heart defects
• Low hairline on the back of the head.

During childhood, adolescence, to adulthood

The ovaries are usually not developed so that the breasts cannot grow. At an older age, they have only had their first menstrual period longer or have not experienced it at all.

Most women with this condition are unable to get pregnant. Heart and kidney problems, as well as hearing loss and clumsiness may appear.

Generally, girls and women who suffer from this disease have normal intelligence, but they sometimes have learning problems.

There may be other symptoms not listed above. If you have any questions about this sign, consult your doctor.

When to see a doctor?

You need to contact your doctor if you experience any of the following:

• Affected people need special assistance from school
• The patient suffers from depression
• The patient is looking for information about a support group.

Cause

What causes Turner syndrome?

Turner syndrome is a condition that occurs when one of the X chromosomes in a woman is partially or completely missing. This is the reason why the cause of this chromosomal abnormality has not been found.

The genetic changes in Turner syndrome may be of the following types:

One chromosome

The complete loss of one X chromosome occurs in the father's sperm or in the mother's egg. This occurs in every cell of the body, all of which have only one X chromosome.

Mosaic

In some cases, errors occur during cell division in the early stages of fetal development. This causes some cells in the body to have a modified copy of the X chromosome. Others may have only one copy of the X chromosome, or one complete and one altered.

Abnormal X chromosome

An abnormal part of one of the X chromosomes may occur. Cells have one complete copy and one modified. This error can occur in sperm or egg cells with all cells having one complete copy and one altered copy.

Errors may also occur in cell division in the early development of the fetus, so that only some cells contain an abnormal part or are missing from one of the X chromosomes.

Y chromosome material

In some cases of Turner syndrome, some cells have a copy of the X chromosome and other cells carry a copy of the X and Y chromosomes.These individuals will develop biologically into girls, but the presence of Y chromosome material increases the risk of a type of cancer called a primary genital tissue tumor called gonadoblastoma..

Risk factors

What increases my risk for Turner syndrome?

Chromosome loss or change occurs randomly. Occasionally, the cause of Turner syndrome is a problem with the egg or sperm. Sometimes, this phenomenon appears in the early stages of fetal development. Turner syndrome does not run in families.

Medicines & Medicines

The information provided is not a substitute for medical advice. ALWAYS consult your doctor.

What are my treatment options for Turner syndrome?

Hormone therapy might help with some extraordinary adjustments. Hormones are chemicals in the body to control growth and other functions in the body.

The growth rate may be increased using growth hormones.

This treatment can help increase the patient's height by several centimeters. In the early years of puberty, female hormones can be used which will aid in physical development such as breast growth and the onset of menstruation.

Medicines will be used when necessary for heart or kidney problems. Experts will help doctors choose the best treatment. They include genetysis specialists in chromosome problems and endocrinologists to treat hormones.

What are the usual tests to diagnose this condition?

Doctors are able to diagnose Turner syndrome based on the child's appearance and perform several tests to see if one X chromosome is missing and to help confirm the diagnosis.

In this test, a small sample of blood is collected. The number of chromosomes from the blood cells is counted, and their size and shape will be studied. The arrangement of the chromosomes is called the human phenotype.

Other tests may be needed to check for other diseases such as heart or kidney disease due to Turner syndrome.

Home remedies

What are some lifestyle changes or home remedies that can be used to treat Turner syndrome?

The lifestyle and home remedies below that might help treat Turner syndrome are:

• Using drugs as prescribed.
• Check periodically with endocrinologist and primary care.
• Exercise, eat a healthy diet, and maintain a normal body weight.

If you have any questions, consult your doctor for the best solution to your problem.