Date: February 1-February 29, 2024

Symbol: Butterfly

Color: Purple

What is Turner Syndrome?

It is a rare disease that occurs in between one and 2,000 birth only affecting females. Turner Syndrome has several names including Ullrich-Turner Syndrome, Bonnevie-Ullrich-Turner Syndrome. gonadal dysgenesis and 45X. This rare disease is the result of the absence of one set of genes from the short arm of one X chromosome. The syndrome was first described by American endocrinologist Henry Turner in 1938.

Characteristics of Turner syndrome include facial and physical appearance, cognitive characteristics, clinical issues and mental healthy symptoms. No two people with Turner syndrome are exactly the same therefore, not everyone will display the same characteristics:

Facial Appearance

• down-turning eyelids
• low-set and prominent ears
• small jaw
• high narrow roof of mouth
• neck webbing

Physical Appearance

• broad chest with widely spaced nipples
• narrow fingernails and toenails
• hand and feet swelling
• short fingers
• smaller than average height
• skin moles

Medical Issues

• chronic middle ear infections
• hearing loss
• heart, liver and kidney abnormalities
• delayed puberty
• undeveloped ovaries
• greater risk for diabetes
• high risk for celiac
• high risk for osteoporosis
• GERD
• scoliosis
• hypertension
• high risk obesity
• may not have menstruations

Cognitive

• normal intelligence in some cases
• issues with visual spatial
• nonverbal memory
• executive function issues
• difficulty in understanding social cues
• behavior issues.

Mental Health

• low-self-esteem
• anxiety
• depression

Treatment

There is currently no cure for Turner syndrome. Thee following are used to treat including therapies:

• Growth hormones
• Estrogen replacement therapy

Update: 1/29/24