Turners Syndrome

Turner syndrome occurs when part or all of an X chromosome is missing from most or all of the cells in a girl's body. A girl normally receives one X chromosome from each parent. The error that leads to the missing chromosome appears to happen during the formation of the egg or sperm.

Turner syndrome was first discovered in 1938 by Dr. Henry Turner while studying a group of 7 girls who all had the same unusual developmental and physical features.
Though most people today refer to the condition as Turner syndrome or TS, your doctor may call it gonadal dysgenesis. This is because one of the defining characteristics of TS is that it affects the ovaries—the primary female gonads or sex glands. Abnormal development or premature insufficiency of the ovaries affects their ability to produce estrogen. This can result in a variety of problems, including infertility, irregular or absent menstrual periods, early menopause, and osteoporosis.

Girls with Turner syndrome are entitled to receive high-dose growth hormone therapy as soon as it becomes apparent that they're not growing normally. It will help make them taller in adulthood. Growth hormone therapy is a daily injection, started at around 5 or 6 years of age or later.

Females with Turner syndrome may develop a variety of distinctive physical features including a short neck with a webbed appearance, a low hairline at the back of the head, low-set ears, and narrow fingernails and toenails that are turned upward.

Wide or weblike neck
Low-set ears
Broad chest with widely spaced nipples
High, narrow roof of the mouth (palate)
Arms that turn outward at the elbows
Fingernails and toenails that are narrow and turned upward
Swelling of the hands and feet, especially at birth
Slightly smaller than average height at birth
Slowed growth
Cardiac defects
Low hairline at the back of the head
Receding or small lower jaw
Short fingers and toes

Subtopic

There is no cure for Turner syndrome, but therapies have been developed that can improve physical development. With proper medical care, females with Turner syndrome should be able to lead full, productive lives. The primary therapies for affected individuals are growth hormone therapy and estrogen therapy.

We are examining the if mosaic karyotype modifies the neurocognitive and psychosocial profiles typically seen in females with Turner syndrome. The goal of this study is to increase our understanding of the relationship between genetics, brain development and behavior.