Does she have Turner Syndrome?

What is Turner Syndrome?

If a girl has these conditions, she may have Turner Syndrome.


Turners syndrome (TS) is a medical disorder that affects about 1 in every 2,500 girls.


Conditions:
· Delayed puberty
· Heart defects (Eg. Aortic coarctation & Bicuspid aortic valve)
· Puffy Hands and Feet (especially at birth)
· Infertility (because of nonfunctional ovaries)
· Kidney, liver and thyroid concerns
· Frequent ear infections and even Hearing problems
· Non-verbal learning disorder (especially social skills and math) – but normal intelligence
· Scoliosis ( Abnormal curving of the Spine)
· Celiac Disease (Autoimmune disorder – Gluten intolerant)


Physical Traits:
· Short ( under 1.4m )
· Webbed neck
· Slight droop to eyes
· Receding lower jawline
· Many moles
· Shorter ring finger
· Triangular face




What causes Turner Syndrome? How do you know whether one has Turner Syndrome?

Causes:


Our entire body is made up of many cells. Each cell contains 23 pairs of chromosomes which contains a person’s genes. These genes then control our traits (eg. Hair colour, Eye colour). Among these 23 pairs of chromosomes, 1 pair controls a person’s sex. For most girls, 2 X chromosomes are found in this pair. However, girls with Turner syndrome are born with either a missing part of 1 X chromosome or born with only 1 X chromosome. The effects depends on how largely the abnormal X chromosome affects other cells in the body, therefore the effects vary widely.


Diagnosing TS:

Unborn baby: Amniocentesis - To obtain cells from the unborn baby for chromosomal analysis

After birth (From birth until middle-childhood or much later): Karyotype test - Blood test to examine genetic make-up

In some cases, there are no recognizable signs that a girl has the condition until she reaches normal puberty age, but does not go through puberty.