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