What is Turner Syndrome?

Turner Syndrome is a genetic disorder characterized by the complete or partial absence of the X chromosome. This disorder affects females only. The absence of the X chromosome manifests itself as many physical and developmental problems. A Turner syndrome child has short stature, heart defects, absent ovaries, and many more defects [1].

Turner Syndrome can be diagnosed before birth, immediately after birth, in early childhood, and in girls with minor symptoms, it might not be diagnosed until teenage. A multidisciplinary team is needed to take care of a patient with Turner syndrome. Regular healthcare visits can enable syndromic girls and women to live healthy and independent life.

 

What are the Symptoms of Turner Syndrome?

The signs and symptoms of Turner syndrome vary according to the missing chromosome. Partially absent X chromosome shows mild symptoms, while completely absent chromosome presents with severe symptoms. The following are some common signs and symptoms of Turner Syndrome [2]:

• Short stature
• Web-like neck
• Low-set ears
• Outward turning arms at elbows
• Low hairline
• Narrow and outward-growing nails
• Swollen and small hands and feet
• No growth spurts
• Heart defects
• Widely spaced nipples
• Shield-like chest
• Horseshoe-shaped kidney
• Streak-like ovaries
• Absent ovaries
• Failure to develop normal sexual characteristics
• Failure to conceive without treatment

There is no specific age at which the symptoms become evident. It can be any age. If you notice any of the above-mentioned symptoms in your loved one, visit your healthcare provider at once.   

 

What is the Cause of Turner Syndrome?

Turner syndrome is a genetic disorder affecting female children only. A baby inherits one chromosome from each parent, it is an X chromosome from the mother and Y from the father in the case of a male child, and one X from each parent in the case of a female child. In Turner syndrome, one copy of the X chromosome is either completely or partially missing. The genetic changes in Turner Syndrome can result from any of the following [3]:

• Monosomy
• Mosaicism
• Y chromosome material
• X chromosome changes

 

How is Turner Syndrome Diagnosed?

Sometimes, symptoms like swollen hands and feet, lack of sexual character development, and short stature are enough for the diagnosis of Turner syndrome. In difficult-to-be-diagnosed cases, genetic karyotyping can help [4]. Some blood is drawn to perform the test to find out if the X chromosome is completely or partially absent.

 

What are the Treatment Options for Turner Syndrome?

Treatment of Turner syndrome depends on the symptoms a child presents with. A multi-disciplinary approach is usually needed to resolve every health issue individually. The team should consist of an endocrinologist, paediatrician, cardiologist, nephrologist, surgeon, and pathologist. The two main concerns related to Turner syndrome are short stature and poor sexual development are treated by [5]:

• Human growth hormone is injected to increase height. Many females reach the optimal height after this
• Estrogen replacement therapy speeds up the development of sexual characteristics and causes breast enlargement and menstruation to begin.

 

 

 

 

 

 

References:

1. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6290843/
2. https://www.ncbi.nlm.nih.gov/books/NBK554621/#:~:text=The%20difficulties%20include%20short%20stature,for%20all%20the%20possible%20complications.
3. https://www.ncbi.nlm.nih.gov/books/NBK554621/#:~:text=Turner%20syndrome%20results%20from%20a,45%2CX%20with%20mosaicism).
4. https://pubmed.ncbi.nlm.nih.gov/17708142/
5. https://pubmed.ncbi.nlm.nih.gov/31213699/

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