Interesting Facts about Turner syndrome 2023

Turner Syndrome: Causes, Symptoms, Diagnosis, and Treatment

Itis a genetic disorder that affects females. 

It occurs when one of the two X chromosomes is partially or completely missing. Instead of having the usual 46 chromosomes, women with Turner Syndrome have only 45 chromosomes, with only one X chromosome instead of two. 

The syndrome is named after Henry Turner, an endocrinologist who first described it in 1938.

Causes:

It is caused by the absence of all or part of one X chromosome in females. The cause of this genetic error is still unknown, but it is believed to be a random event that occurs during the formation of the egg or sperm, or shortly after fertilization. It is not caused by anything the parents did or did not do.

Symptoms :

Girls with Turner Syndrome may have a wide range of symptoms, including:

• Low hairline

• Webbed neck

• Broad chest

• Widely spaced nipples

• Peripheral lymphedema at birth

• Low-set ears

• Narrow and high arched palate

• Short fourth metacarpal and metatarsal bones

• Short stature

• Pigmented nevi

• Streak ovaries leading to infertility

• Hypothyroidism

• Congenital heart disease, such as coarctation of the aorta, bicuspid aortic valve.

Diagnosis :

It is usually diagnosed during prenatal screening or in infancy or early childhood. Diagnostic tests include:

• Chromosome analysis: This is the gold standard test that confirms the diagnosis . It is performed on a blood sample to examine the chromosomes for abnormalities.

• Physical exam: A physical examination may reveal some of the typical physical features , such as a webbed neck or low-set ears.

• Hormone tests: Hormone levels, such as thyroid hormones, estrogen, and follicle-stimulating hormone, may be tested to evaluate any hormone imbalances.

Treatment :

There is no cure , but treatment can help manage the symptoms and associated conditions. The treatment may include:

• Growth hormone therapy: Growth hormone therapy can increase the height of girls , especially if it is started early in life.

• Estrogen replacement therapy: This therapy helps to replace the missing female sex hormones, which can help prevent osteoporosis and maintain sexual health.

• Thyroid hormone replacement therapy: This therapy is given to treat hypothyroidism, which is common in girls with Turner Syndrome.

• Surgery: Surgery may be needed to correct congenital heart defects or other anatomical abnormalities.

Conclusion:

Itis a genetic disorder that affects females and occurs when one of the two X chromosomes is partially or completely missing. 

The syndrome is associated with a wide range of symptoms, including short stature, heart defects, and infertility. 

There is no cure for Turner Syndrome, but treatment can help manage the symptoms and associated conditions. 

If you or your child is experiencing symptoms , you should speak with a healthcare professional.

FREQUENTLY ASKED QUESTIONS: 

Q-What are the main causes of Turner syndrome?

Q-What hormone causes Turner syndrome?

Q-Is Turner syndrome inherited from mother or father?

Q-What are the four symptoms of Turner syndrome?

Q-What does Turner syndrome do to a person?

Q-Is Turner syndrome XO or XXY?

Q-How do you write a karyotype for Turner syndrome?

Q-What is the most common Turner karyotype?

Q-What are 2 facts about Turner syndrome?

Q-टर्नर सिंड्रोम किस हार्मोन का कारण बनता है?

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Q-टर्नर सिंड्रोम एक्सओ या एक्सएक्सवाई है