Turner Syndrome
A condition that affects female infants who are missing a sex chromosome.
The gene named SHOX is shown as affected and alters the stature of the females.
Treatment
This condition occurs in about 1 in 2,500 female births worldwide, but is much more common among pregnancies that do not survive to term (miscarriages and stillbirths).
Only affects females.
The affected are usually unable to concieve.
Diagnosis: Physical examination for short stature and the lack of the development of the ovaries. It can be tested during pregnancy with prenatal testing. Karyotype blood testing can confirm turner syndrome.
Researchers are unware of what genes are mutated with Turner Syndrome.
Regular health checkups are important especially while the female child is going through puberty.
Symptoms
Excess fluid collection on the back of neck or other parts of the body in utero
Heart and kidney abnormalities in utero
Wide or web-like neck
Small lower jaw
High, narrow roof of the mouth
Low hairline at the back of the head
Ears set a little lower than normal
Broad chest with widely spaced nipples
Arms turning outward at the elbows
Short fingers and toes
Narrow fingernails and toenails that are turned upward
Swelling of the hands and feet, especially at birth
Reduced height at birth
Delayed growth
Short height
Delayed or no puberty
Amenorrhea
Incomplete sexual developments
Learning disabilities
Problems understanding social situations
pediatric endocrinologist, who is a specialist in childhood conditions of the hormones and metabolism.
Growth hormone injections
Estrogen replacement therapy
May need surgery if issues with aorta