Turner’s syndrome – Types, Symptoms, Risk factors, and Treatments

Turner’s syndrome is a genetic condition that affects only women. The other name for Turner’s syndrome is congenital ovarian hypoplasia syndrome.

Turner’s syndrome is a sex chromosomal abnormality that is caused by one of the X chromosomes. These chromosomes are responsible for transferring genetic information from one generation to another.

When there is a defect in the chromosomal formation, it can lead to such abnormalities.

Among the 23 pairs of chromosomes present in humans, the sex chromosomes detect the sex of humans. If a human contains an XY chromosome, the baby will be a male, and if the baby contains XX chromosomes, the baby will be female.

When a female has a missing X chromosome or the chromosome is partially defective, it can lead to Turner’s syndrome. It is one of the most common chromosomal abnormalities in females.

Turner’s syndrome can affect women at a ratio of 1 in 2000, according to NCBI data. However, the number can be approximate, as the diagnosis of many patients with mild phenotypes may remain undiagnosed.

Nowadays, the rate of infants born with Turner’s syndrome has decreased as mothers carrying the baby have increased awareness, and they decide to terminate the baby with abnormalities.

Can Turner’s syndrome be inherited?

Turner’s syndrome is a genetic disorder and not an inherited condition. In rare cases, it can be inherited. However, there is no strong evidence of inherited disease conditions.

An inherited condition is where the ancestral defective gene or mutation passes to the next generation. Turner’s syndrome is commonly caused due to abnormal chromosomal deletion or substitution.

Types of Turner’s syndrome

The common types of Turner’s syndrome are discussed below.

Monosomy X

According to scientific data, about half of female infants are affected by this type of chromosomal abnormality.

Monosomy X is caused when there is a missing chromosome in the 23^rd pair of sex chromosomes. A female will have two X chromosomes. When one X chromosome is missing or deleted in that 23^rd pair, it can lead to monosomy X type Turner’s syndrome.

So, the female will have 45 chromosomes instead of 46 chromosomes. Monosomy X is caused when a random error occurs during the fusion of the egg and the sperm. The missing chromosome can occur either from the egg or the sperm.

Mosaic Turner’s syndrome

Mosaic Turner’s syndrome is caused when there are certain changes in some of their cells. Mosaic Turner’s syndrome accounts for 30% of the condition. Mosaic Turner’s syndrome is an error that occurs during cell division.

Inherited Turner’s syndrome

Inherited Turner’s syndrome is a rare case. It occurs one of the parents is affected by the condition, and the disorder is passed on to their child.

What causes Turner’s syndrome?

Turner’s syndrome commonly occurs when there is a missing sex chromosome in the 23 pairs. When the egg is fertilised, half chromosome comes from the maternal and paternal.

When there is a missing chromosome, Turner’s syndrome can occur. The missing chromosome can occur during fusion or cell division. However, the reason behind this deletion is still unknown.

Missing or incomplete chromosome

Turner’s syndrome is commonly caused when one of the sex chromosomes is missing or non-functioning.

According to NCBI, about 50% population affected with Turner’s syndrome have monosomy X, and the other 50% have mosaic chromosomal components.

Symptoms of Turner’s syndrome

There will be certain symptoms exhibited by girls affected with Turner’s syndrome.

Short stature

Infants or girls affected with Turner’s syndrome will have short stature. According to NCBI, grown women can have their estimated height to be about 20 cm below the average female adult height.  Girls affected with Turner’s syndrome will require close monitoring.

Slow growth

Slow growth is also an important symptom of Turner’s syndrome. Girls affected with Turner’s syndrome will not have any deficiency in growth hormone. However, if they are administered with growth therapy, they will respond well.

Other physical traits

Girls or women affected with Turner’s syndrome will have underdeveloped breasts. Puberty may hit them at a delayed age.

They may not be menstruating and have small ovaries that only function for a short period of time. In some cases, they may have underdeveloped ovaries. The affected women will have fewer sex hormones or no sex hormones.

They will have certain physical traits like a broad chest, dental problems, numerous skin moles, small lower jaw, narrow fingernails and scoliosis (a condition of spine nerves that curve sideways).

Risk factors

Cardiovascular problems

Cardiovascular problems can be a frequent abnormality associated with Turner’s syndrome. Girls affected with Turner’s syndrome may have blood vessels problem. If these are left untreated, they can be life-threatening.

According to scientific data, the risk of congenital heart diseases like bicuspid aortic valves, valve abnormalities and other septal defects increases at a young age.

Bone problems

Girls affected with Turner’s syndrome will have low bone density and will experience recurrent fractures.

According to NCBI, Turner’s syndrome can also increase the risk of scoliosis. It is advised for girls affected with Turner’s syndrome to get tested at least annually.

Other health conditions

Patients affected with Turner’s syndrome can also have other comorbidities like Celiac disease, autoimmune thyroiditis, liver disease, metabolic syndrome and vitamin D deficiency.

They can also have other complications like hearing loss, hypothyroidism, neurocognitive deficits and other metabolic disorders like insulin resistance.

Diagnosis of Turner’s syndrome

Turner’s syndrome can be diagnosed with the help of a genetic test called karyotyping. Karyotyping is a confirmatory test for Turner’s syndrome.

The blood will be drawn from the affected girls, and it will be tested for the presence of X chromosomes. To check whether the chromosome is missing or partially deleted. Sometimes, a complete health check-up will also be a part of a diagnosis.

Treatment of Turner’s syndrome

Turner’s syndrome can be treated if they are diagnosed at an early age. There are wide treatment options available for Turner’s syndrome.

Human growth hormone

Human growth hormone treatment can help girls affected with Turner’s syndrome. The treatment should start at an early age so that the treatment can have effective results.

Human growth hormones can help correct problems related to height. Growth hormone therapy can be administered as early as 5 or 6 years as soon as the child is detected with Turner’s syndrome.

Oestrogen therapy

Oestrogen therapy is also one of the commonly recommended treatments for Turner’s syndrome. Oestrogen and progesterone therapy is administered for sexual development.

Oestrogen administration will help prevent the breakage of bones as the bones can be brittle. Girls affected with Turner’s syndrome will require sex hormone treatment throughout their life as they will not have the ability to produce healthy ovaries.

Cyclic progestins

Cyclic progestins are hormones added at the age of 12, which will help induce menstrual periods. This treatment will help stimulate normal puberty.

Prevention of turner syndrome

Turner’s syndrome cannot be prevented as it is a genetic condition. It occurs during the fusion of the egg and the sperm. And parents cannot do anything to prevent it. However, certain tests can help prevent this condition when the baby is in the womb.

Conclusion

Girls living with Turner’s syndrome can lead a happy life if they are treated properly at an early age. Turner’s syndrome can affect the quality of life. However, early treatment can help prevent complications.

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