The Basics

The Turner Syndrome Society of the United States defines the disease as "a chromosomal condition that describes girls and women with common features that are caused by complete or partial absence of the second sex chromosome."

The syndrome is named after Dr. Henry Turner, who was among the first to describe its features in the 1930's.


Diagnosis

• A test called "Karotype" is performed on cells on the amniotic fluid before birth and on cells in the blood cells after birth. The test looks for abnormalities within the cells.
• Females born without TS have two X chromosomes (46, XX); while TS patients are missing all or part of one X chromosomes
• Half of the girls with Turner Syndrome have only one X chromosome (45, X) and another third have two X chromosomes but part of one X is missing

Typical Characteristics

• Short stature: untreated girls will grow to be only about 4'8" in adulthood, which is eight inches shorter than the lower average for females; at birth, the girls average height is 18.5"
• Premature Ovarian Failure: 90% of the girls will experience early ovarian failure and require Estrogen replacement therapy (which treats breast development, feminine body contours, menstruation, and proper bone development)

Physical Features

• Narrow, high-arched roof of mouth
• Receding lower jaw
• Low-set ears
• Low hairline
• Webbed neck
• Slight droop to eyes
• Lazy eye
• Broad chest
• Scoliosis
• Flat feet
• Short fourth metacarpals
• Edema of the hands and feet

Health Problems

• Heart issues
• Kidney abnormalities
• Thyroid
• Ear Infections
• Hearing Loss (which require some to need hearing aids early)

Treatments

• Growth Hormone Therapy
• Estrogen Therapy
• Fertility options

Cure

• NONE.....yet!

Photo Credit and information credit: turnersyndrome.org/