Most cases of Turner syndrome are diagnosed during childhood or adolescence, although it is possible for indicative signs to be identified in a prenatal ultrasound and confirmed with an amniocentesis diagnostic test.
Karyotyping is used to confirm the diagnosis in children and adults, as it analyses the chromosomes and detects the missing X chromosome characteristic of Turner syndrome.
The treatment for the condition typically involves hormonal replacement therapy, in addition to support from a multidisciplinary team to prevent complications associated with the condition.
Turner syndrome may be suspected in a fetus based on evidence of lymphedema or abnormalities of the heart or kidneys identified in a routine prenatal ultrasound. In this case, amniocentesis can be used to take a sample fluid from the womb, which is tested for chromosomal evidence of Turner syndrome.
There are a number of physical signs that may prompt diagnosis of Turner syndrome. These include;
- Reduce growth and short stature
- Wide or webbed neck
- Broad chest with wide-set nipples
- Absence of sexual changes at puberty
Diagnosis can be confirmed with a karyotype blood test. This involves the analysis of the chromosomal composition of the female and evidence of the missing or partially missing X chromosome.
There is no cure for Turner syndrome and treatment typically involves a multidisciplinary team to manage the various symptoms in the most appropriate manner.
Girls and teenagers who are affected often receive care from a pediatric endocrinologist who specializes in childhood conditions with abnormal hormones and metabolism. Many children also have learning difficulties and have trouble socializing with other people, which can affect their overall wellbeing. Psychological support and additional learning aids can be helpful in some cases.
Injections of growth hormone can help reduce short stature in some girls. This usually begins in early childhood and can help to lessen the difference in expected height from approximately 20 cm to 15 cm.
At puberty, or around 12 years, estrogen replacement therapy may be initiated to allow for the development of sexual characteristics such as breast tissue. This progresses to estrogen and progesterone therapy several years later to induce a monthly period, maintain the health of the womb, and prevent osteoporosis.
The vast majority of women with Turner syndrome are infertile, although some are able to conceive a child naturally. It may be possible for a woman to become pregnant with a donor embryo and in-vitro fertilization (IVF).
Management of Complications
There are several other health conditions that are associated with Turner syndrome that may require treatment.
For example, heart murmur is common due to the narrowing of the aorta and hypertension in individuals with Turner syndrome, and some affected babies are born with this. A cardiologist can help to assess this and recommend the appropriate treatment.
There is also an increased risk of middle ear infections and recurrent infections can lead to hearing loss in severe cases. Girls with Turner syndrome that get frequent infections should be referred to a pediatrician to make the appropriate interventions.
Women with Turner syndrome are also more like to be affected by:
It is important that regular health check-ups are carried out on an ongoing basis to monitor for signs of these conditions and provide preventative care or early interventions when necessary.
Reviewed by Susha Cheriyedath, MSc