Turner syndrome is a rare chromosomal disorder in females that occurs when they are born with a missing, or partially missing, X chromosome. Girls and women with Turner syndrome can lead healthy, independent lives but will require ongoing medical attention.
The most common symptom of Turner syndrome is short stature. Other symptoms include delayed puberty, menstrual problems, infertility, kidney problems, and heart defects. In some cases, learning disabilities and difficulties with visual-spatial relationships are present. Other physical symptoms include:
The X chromosome is called a sex chromosome because it has to do with the genetic sex of the person. The X chromosome affects the development of physical features that are associated with sexual maturity. Thus, when there is an abnormality with the number of X chromosomes or their function, then delayed puberty and infertility can occur.
Adolescent girls with Turner syndrome may have problems with pubertal development, as the ovaries do not develop properly.
The cause of Turner syndrome is unknown, but we do know that it is related to the X chromosome.
In normal situations, people have two sex chromosomes in each cell. Females have two X chromosomes, and males have one X and one Y chromosome.
With Turner syndrome, one normal X chromosome is present in the female’s cells, and the other sex chromosome is missing or structurally altered.
The genetic abnormality is apparent in one of following situations:
Researchers are learning more about how the X chromosome genes are related to Turner syndrome and hope to have more answers regarding the cause of this condition.
Turner syndrome may be diagnosed prenatally with genetic testing or at birth, if symptoms are apparent. However, it is most commonly identified in early childhood over concerns of slowed growth.
It can be difficult to discern the symptoms of Turner syndrome from other conditions. If Turner syndrome is suspected, screening may include one or more of the following tests in addition to a physical examination:
Dr. Joshua Smith, our pediatric endocrinologist, will perform a comprehensive medical evaluation to determine if Turner syndrome is the appropriate diagnosis.
While there is no cure for Turner syndrome, there are treatments available to improve physical development and sustain a good quality of life.
Typical therapies include growth hormone, estrogen, and other endocrine related therapies.
As part of his medical evaluation, Dr. Smith will review medical history and schedule lab work if deemed necessary. Once a diagnosis has been determined, an appropriate treatment plan will be developed to provide the best possible quality of life.
Dr. Smith is the region’s only pediatric endocrinologist and is specifically trained to properly diagnose and treat Turner syndrome.
If your child’s growth is delayed or is experiencing any of the symptoms listed above, call Dr. Joshua Smith for an appointment, or fill out the form below.