Welcome to this video tutorial on Turner syndrome
Turner syndrome or 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 dygenesis
and it affects one in 2000 live female births.
There are three possible chromosomal structural anomalies in Turner syndrome.
First is monosomy X or 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 chromosome is malformed or missing
and this occurs in 30% of TS girls.
Third mosaicism is the chromosomal change present in only some of the cells
and the symptoms of TS are less severe.
The following are some signs and symptoms of Turner syndrome:
a short stature which is the most common and evident by age 5,
early loss of ovarian function which causes a menorah and infertility,
wide short webbed neck,
drooping eyes and cataracts,
frequent ear infections and hearing loss,
lymphedema or swelling of the hands and feet,
skeletal abnormalities such as scoliosis and osteoporosis,
kidney problems,
heart defect
such as coarctation of the aorta,
hypothyroidism,
and glucose intolerance or diabetes
Short stature is the most common of these visible characteristics
and the only symptom that is 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 is not noticed until age 5 to 7.
The average adult height is 4 foot 8 inches
and women with TS have a growth hormone deficiency
or GHD in which growth and cell reproduction is stunted.
GHD can be treated with human growth hormone replacement.
Gonadal dygenesis refers to the 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 and feminine body contours, no menstruation, and infertility.
30% of girls will enter partial puberty but ovaries will eventually cease functioning.
Estrogen and progesterone replacement therapy can be given to induce puberty.
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 and 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 patients heart prior to pregnancy.
Learning issues can be another sign and symptom of Turner syndrome.
Most people with Turner syndrome have normal intelligence.
However, over one-third of girls are diagnosed during elementary age or adolescents
with development and learning issues
These include: deficits and spatial visualization, math abilities, and social cognition
Here are some nursing care tips when taking
care of the 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
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