The History

In 1938, an endocrinologist named Dr. Henry Turner studied a group of seven female patients that had been referred to him for either dwarfism or lack of sexual development. The patients ranged in age of 15 to 23. He found similarities between the patients and discovered that what had been mistaken for dwarfism was something entirely different.

In England in 1959, Dr. Charles Ford and colleagues discovered a 14 year-old girl with only one X chromosome (45, X). This became the first published report of a female lacking a chromosome.

In 1983, a study examining the use of human growth hormones in Turner patients began. By 1997, the use of most growth hormones had been approved by the Food and Drug Administration in the United States. By 2004, human growth hormones had become standard procedure after diagnosis of Turner Syndrome.

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/

The Beginning

This project was made for my Women's and Gender Studies class. The intent was to choose a topic to become an activist for that had Women and Genders in mind. However, the true meaning of this project is to create awareness and gain support for a specific group of people. My meaning is named MacKenzie Schilling.

MacKenzie is my 7 year-old cousin. She was born with a virtually unknown disease, Turner's Syndrome. On the surface it means that she will be smaller than any typical female in her life. At 7, her baby brother already weighs more than she does. Despite this fact, Kenz is one of the most amazing human beings I have ever known. She is an avid cheerleader and could probably beat me at tee-ball. She is the happiest little girl you will ever encounter and is smarter than some of the people I graduated high school with. After my research into the subject, one of the major setbacks is the females affected by this disease tend to have severe emotional problems and although she will be eight in June, I know that Kenz will always keep that beautiful smile on her face.

Since there is currently no cure for Turner's but merely treatments to help make it somewhat easier to live with, I created this project for all of the little girls like MacKenzie.

When life gives you lemons, you make lemonade :)