In order to understand that we first need to know that, the human body typically has 46 (or 23 paired) chromosomes that store genetic material. X and Y chromosomes determine your sex.
The male sex has one X and one Y chromosome. The female sex has two X chromosome.
- So Turner syndrome (TS or monosomy X) is a genetic disorder that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing.
- Turner syndrome can cause a variety of medical and developmental problems. Girls with TS are shorter than most girls.
- They don’t go through normal puberty as they grow into adulthood.
- They may also have other health problems such failure of the ovaries to develop, kidney and heart defects.
The seriousness of these problems varies from girl to girl. Many of the health problems affecting girls with Turner syndrome can be managed or fixed with treatment
How common is Turner Syndrome?
Turner syndrome is rare. It occurs in about 1 in 2,000 to 2,500 girl babies.
What are the causes?
The cause of the genetic abnormality is unknown. Typically, Turner syndrome is not inherited. It’s a random event that happens during the early stages of development in the womb.
There is no evidence that a mother’s age increases the risk that a baby will be born with Turner syndrome.
What are the signs and symptoms of Turner Syndrome?
Signs and symptoms of Turner syndrome may vary among the females. For some girls, the presence of Turner syndrome may not be readily apparent, but in other girls, several physical features are apparent early.
Signs and symptoms can be subtle, developing slowly over time, or significant, such as heart defects.
Before birth :
Turner syndrome may be suspected prenatally based on prenatal cell-free DNA screening (a method to screen for certain chromosomal abnormalities in a developing baby using a blood sample from the mother or prenatal ultrasound). Prenatal ultrasound of a baby with Turner syndrome may show:
- Large fluid collection on the back of the neck or other abnormal fluid collections
- Heart abnormalities
- Abnormal kidneys
At birth or during infancy
Signs of Turner syndrome at birth or during infancy may include:
- difficulty with feeding
- Wide or weblike neck
- Low-set ears
- Broad chest with widely spaced nipples
- High, narrow roof of the mouth (palate)
- Arms that turn outward at the elbows
- Fingernails and toenails that are narrow and turned upward
- Swelling of the hands and feet, especially at birth
- Slightly smaller than average height at birth
- Slowed growth
- Low hairline at the back of the head
- Receding or small lower jaw
- Cardiac defects
- Short fingers and toes.
In childhood, teens and adulthood:
Childhood and teenage years. As a person grows up, the signs of Turner syndrome may become a bit more obvious. Some of these signs include:
- Slowed growth, smaller in stature than most of their peers
- Below average in both height and weight
- No growth spurts at expected times in childhood
- Adult height significantly less than might be expected for a female member of the family.
- For most females with Turner syndrome, inability to conceive a child without fertility treatment
- Chronic ear infections
- Hearing issues
- Learning difficulties
- One of the main symptoms of Turner syndrome is the underdevelopment of the ovaries. Because the ovaries are responsible for producing sex hormones, this underdevelopment can slow or stop the typical signs of puberty, such as breast development and menstruation, in people assigned female at birth.
How can Turner Syndrome be diagnosed?
Turner syndrome may be diagnosed prenatally (before birth), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years.
The condition is identified through a laboratory procedure called karyotyping.
- Other tests can be used to look for the physical symptoms of Turner syndrome. These tests may include:blood tests to check sex hormone levels
- echocardiogram to examine for heart defects
- pelvic exam
- pelvic and kidney ultrasound
- chest MRI scan
Treatments that help manage symptoms include growth therapy, sex hormone therapy, and emotional support.
There is no way to prevent Turner syndrome but girls and women with Turner syndrome need ongoing medical care from a variety of specialists. Regular checkups and appropriate care can help most girls and women lead healthy, independent lives.
Why CURA Advanced Physiotherapy?
Cura Advanced Physiotherapy provide the best possible treatment and care for your child and also for the parents we provide proper support, education and guidance towards the treatment.
Cura Advanced Physiotherapy has the best pediatric care team who makes tailored treatment plan based in the child's needs.