Short stature caused by Turner Syndrome, a genetic condition, can sometimes be treated with growth hormone therapy.
The syndrome is caused by a problem with one of the X chromosomes, which are the chromosomes responsible for a baby’s gender. Turner syndrome may affect girls in different ways, but shorter than normal height is among the most common signs. In fact, more than 95% of adult women with Turner syndrome are shorter than average.
Along with short stature, some other common physical conditions of Turner syndrome are:
- Heart defects
- Ovarian failure resulting in failure to progress through puberty at normal age
- Short neck with webbed appearance
- Low hairline at the back of the neck
- Differently shaped, low-set ears
- High arched palate
- Small jaw
- Broad chest
- Larger number of moles on the skin
- Drooping eyelids
- Triangular face
- Puffy hands and feet (lymphedema)
Surprising fact: Short stature in girls with Turner Syndrome is not due to a lack of growth hormone, but, for unknown reasons, the girl does not respond to the growth hormone she makes herself.
Diagnosing Turner Syndrome.
About one-third of patients with Turner syndrome are diagnosed as newborns due to puffy hands and feet (lymphedema) or thicker than normal neck skin. Another third are diagnosed in mid-childhood by their short stature, and other patients are diagnosed later when they fail to enter puberty.
Girls with Turner syndrome may start to slow down in their growth as early as 18 months of age, and continue to grow slowly through childhood. As teens, girls with Turner syndrome typically don’t have the growth spurt that other girls their age do. It’s the absence of this growth spurt or delay in puberty that may prompt a doctor to look for the presence of a disease that is preventing normal growth.