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.
· 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)
· 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?
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.
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.