Welcome to this video tutorial on Turner syndrome!
Turner Syndrome Overview
Turner syndrome (TS) is a chromosomal disorder affecting the development of females. Normally, females have two X chromosomes in each cell, but for the patient with TS, one X chromosome is completely missing or structurally altered.
It is also known as Ullrich-Turner syndrome and gonadal dysgenesis, and it affects 1 in 2,000 live female births.
Chromosomal Patterns in Turner Syndrome
There are three possible chromosomal structural anomalies in Turner syndrome:
First is monosomy X (45,X). An X chromosome is absent (there are only 45 chromosomes instead of the usual 46). This creates the most severe observable characteristics and occurs in approximately 50% of TS girls.
Second is partial X deletion. This is where both X chromosomes are present, but one arm of one X chromosome is malformed or missing. This occurs in 30% of TS girls.
Third, mosaicism, is the chromosomal change present in only some of the cells. The symptoms of TS are less severe.
Signs and Symptoms of Turner Syndrome
The following are some signs and symptoms of Turner syndrome:
- Short stature, which is the most common and evident by age 5
- Early loss of ovarian function, which causes amenorrhea and infertility
- Wide, short, webbed neck
- Drooping eyes and cataracts
- Frequent ear infections and hearing loss
- Lymphedema (swelling) of the hands and feet
- Skeletal abnormalities such as scoliosis and osteoporosis
- Kidney problems
- Heart defects such as coarctation of the aorta
- Hypothyroidism
- Glucose intolerance or diabetes
Short Stature and Growth Delay
Short stature is the most common visible characteristic and the only abnormality seen in 100% of Turner syndrome patients.
Patients with Turner syndrome usually have intrauterine growth retardation, and their growth rate is below normal during infancy and childhood (but most often it is not noticed until age 5–7).
The average adult height is four feet and eight inches, and women with TS have a growth hormone deficiency (GHD), in which growth and cell reproduction is stunted. GHD can be treated with human growth hormone (hGH) replacement.
Ovarian Function and Puberty
Gonadal dysgenesis refers to abnormal or incomplete development of the ovary. This causes a lack of estrogen and progesterone and occurs in more than 90% of TS patients.
There is an absence of breast development, feminine body contours, no menstruation, and infertility. Thirty percent of girls will enter partial puberty, but ovaries will eventually cease functioning. Estrogen and progesterone replacement therapy can be given to induce puberty.
Cardiovascular Risks
There are several cardiovascular risks that are also common with Turner syndrome patients:
- Congenital heart defect occurs in approximately 30% of TS patients.
- Hypertension is common in 40% of TS patients and should be treated vigorously.
- With advanced treatments available for women with Turner syndrome, some women are able to achieve pregnancy. It is therefore important for her doctor to have an MRI done to check the status of the patient’s heart prior to pregnancy.
Learning and Developmental Concerns
Learning issues can be another sign or symptom of Turner syndrome. Most people with TS have normal intelligence; however, over one-third of girls are diagnosed during elementary age or adolescence with development and learning issues. These include deficits in spatial visualization, math abilities, and social cognition.
Nursing Care for Turner Syndrome
Here are some nursing care tips when taking care of a patient with Turner syndrome:
- The nurse taking care of a female pediatric patient needs to be aware of the signs and symptoms of Turner syndrome.
- Any girl who has unexplained growth failure should be further examined and will need to see a pediatric endocrinologist once TS is confirmed.
- For the TS patient, a delayed diagnosis makes it more difficult to achieve a productive, normal lifestyle as an adult.
- The pediatric nurse and school nurse will want to be especially careful not to miss the characteristics of Turner syndrome.
Thank you for watching this video tutorial on Turner syndrome!
