Turner syndrome is a genetic condition that affects approximately 1 in 2000 baby girls. Girls with Turner syndrome are usually short in stature, do not menstruate, and are infertile due to underdeveloped ovaries. In most cases, this condition is not diagnosed until puberty.
Each human cell contains 2 sex chromosomes. These determine the sex of the individual. In the case of males, the 2 sex chromosomes are dissimilar in appearance (XY). In the case of normal females, the 2 sex chromosomes are similar in appearance (XX). A girl with Turner syndrome does not have one of the X sex chromosomes (classic Turner syndrome) or will have a missing part in one of her X sex chromosomes (mosaic Turner syndrome).
Turner syndrome is caused due to a chromosomal variation that occurs randomly at conception.
Girls with Turner’s syndrome may have difficulty with:
Social interaction (The process of acting and reacting to others): This can lead to problems forming and maintaining relationships both at home and at school.
Spatial awareness (Being aware of one’s body in relation to other people or objects in space): This may create problems driving or using a map.
Numeracy: Difficulty understanding simple numerical concepts.
Focusing ability: Individuals with Turner syndrome usually have a very short attention span and are hyperactive, restless and impulsive. This causes problems in a classroom setting.
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Girls with Turner syndrome usually present with the following features:
Lymphedema: Swollen hands and feet caused by accumulation of fluid in the tissues; usually resolves after birth
Thickness and swelling of the neck
Overall small size
Growth rate abnormalities:
Childhood: Growth is normal until 3 years of age when growth rate slows down.
Puberty: There is no growth spurt during puberty.
Adulthood: Height of an adult is shorter than average.
Inadequate production of sex hormones by the ovaries.
This is characterized by:
Incomplete or no development of secondary sexual characteristics (breasts and pubic hair)
May not menstruate monthly
Webbed (short and wide) neck
Broad chest with increased distance between nipples
Crowding of teeth
Increased number of moles
Small nails that are spoon shaped
Small fourth toe or finger
Ptosis (drooping of eyelids)
Amblyopia (lazy eye)
Cataracts (clouding of the lens)
Myopia (short sightedness)
Ear abnormalities:Recurrent ear infections
Misshapen, low-set ears
Associated conditions:Heart murmur. An abnormal sound during or between heartbeats
Urinary tract infections
Osteoporosis (brittleness of bones)
Scoliosis (abnormally curved spine)
Gastroenterological problems: Bleeding and ulcers in the stomach and intestines
Turner syndrome can be identified at various stages of growth:
Ultrasound scan is performed to check for kidney or heart problems.
Amniocentesis is done to check for any genetic abnormality.
Birth and childhood:
Identified by the presence of lymphedema, heart or kidney problems at birth and very slow growth rate after 3 years of age; other typical signs include thick neck, abnormally shaped ears, broad chest and widely spaced nipples.
Blood tests are ordered to evaluate genetic makeup and confirm the diagnosis.
Adolescence: In addition to those mentioned above other diagnostic features would include:
Incomplete development of secondary sexual characteristics
In severe cases, no development of secondary sexual characteristics.
There is no cure for Turner syndrome other than symptomatic management. This would include:
Regular health checks: To identify and treat any complications that may arise, particularly in the following areas:
Ear examinations and hearing tests: Due to increased susceptibility to ear infections leading to hearing loss
Blood pressure monitoring: Due to increased likelihood of high blood pressure associated with underlying heart or kidney problems
Thyroid function tests: Due to higher risk of hypothyroidism
Glucose level monitoring in blood and urine: Due to higher risk of diabetes
Bone mineral density test: Due to increased risk of osteoporosis
Growth hormone therapy: Helps increase the height of the child. It can be given in the form of injections starting around 5-6 years and continuing until 15-16 years.
Oestrogen replacement therapy: These are sex hormones that are administered for development of breasts and sexual maturation. Oestrogen is also important for maintaining bone mineral density and preventing osteoporosis. This therapy is usually started at 11 years of age and continued until menopause. It can be given as a tablet, gel, or patch.
Progesterone replacement therapy: These are sex hormones that are administered for initiation of menses. It is usually started after oestrogen therapy and can be given along with oestrogen or separately. It is given in the form of a tablet or patch.
Infertility treatment: Assisted conception techniques such as in vitro fertilization and egg donation
Extensive research has been done on treatment of Turner syndrome. Some studies include:
W H Price; J F Clayton; S Collyer; R De Mey and J Wilson. Mortality ratios, life expectancy, and causes of death in patients with Turner's syndrome. J Epidemiol Community Health. 1986 Jun; 40(2): 97–102.
Y Dulac; C Pienkowski; S Abadir, M Tauber, P Acar. Cardiovascular abnormalities in Turner's syndrome: what prevention? Arch Cardiovasc Dis. 2008 Jul-Aug;101(7-8):485-90. doi: 10.1016/j.acvd.2008.05.007. Epub 2008 Aug 20.