What is Turner Syndrome?

Turner syndrome (TS) is a chromosomal disorder affecting the development of females.

Normally, females have two X chromosomes in each cell, but females with TS are born with one X chromosome completely missing or structurally altered.

It is also known as Ullrich-Turner syndrome & gonadal dysgenesis, and it affects 1 in 2,000 live female births.

There are 3 possible chromosomal structural anomalies in Turner Syndrome – karyotyping (test that examines chromosomes in a sample of cells) is required for the diagnosis.

     Monosomy X (45,X) - an X chromosome is absent (only 45 chromosomes

     instead of the usual 46) - most severe observable characteristics -

     occurs in approximately 50% of TS girls.

     Partial X deletion - both X chromosomes are present, but one arm of one

     X chromosome is malformed or missing - occurs in 30% of TS girls.

     Mosaicism - chromosomal change present in only some of the cells -

     symptoms of TS are less severe.

Signs & Symptoms of Turner Syndrome:

     Short stature – most common, evident by age 5

     Early loss of ovarian function – amenorrhea & infertility

     Wide, short, webbed neck

     Drooping eyes & cataracts

     Frequent ear infections, hearing loss

     Lymphedema (swelling) of the hands & feet

     Skeletal abnormalities – scoliosis, osteoporosis

     Kidney problems

     Heart defect – coarctation of the aorta

     Hypothyroidism

     Glucose intolerance or Diabetes

Short stature is the most common visible characteristic & the only abnormality seen in 100% of patients with Turner Syndrome.

– They usually have intrauterine growth retardation
– Their growth rate is below normal during infancy & childhood, but most often it is not noticed until age 5-7.
– Average adult height is 4 ft 8 in.
– Women with TS have a growth hormone deficiency (GHD), in which growth & cell reproduction is stunted.
– GHD can be treated with human growth hormone (hGH) replacement.

Gonadal dysgenesis refers to abnormal or incomplete development of the ovary.

– Lack of estrogen & progesterone
– Occurs in more than 90% of TS patients
– Absence of breast development & feminine body contours
– No menstruation
– Infertility
– 30% of girls will enter partial puberty, but ovaries will eventually cease functioning.
– Estrogen & Progesterone replacement therapy can be given to induce puberty.

Cardiovascular risks:

– Congenital heart defect occurs in approximately 30% of TS patients
– Hypertension is common in 40% of TS patients & 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 issues:
– Most people with TS have normal intelligence, however, over 1/3 of girls are diagnosed during elementary age or adolescence with development & learning issues.
– These include deficits in spatial visualization, math abilities, & social cognition.

Nursing care:

– Nurse taking care of a female pediatric patient needs to be aware of the signs & symptoms of Turner Syndrome.
– Any girl who has unexplained growth failure should be further examined & 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 & school nurse will want to be especially careful not to miss the characteristics in Turner syndrome.