Causative and risk factors
Each human cell contains 46 chromosomes of which 2 are sex chromosomes. Men carry an X and a Y chromosome, whereas women carry 2 X chromosomes. Turner syndrome is caused when the ‘X’ sex chromosome is completely or partially missing.
It is a genetic defect, although it usually cannot be inherited.
Clinical presentation
The typical picture of Turner’s syndrome is a woman shorter than average height who is usually unable to conceive because of absence of ovarian function. If not treated, they do not have menstrual periods or breast development at puberty. Even when menstrual cycles do begin, they tend to end early. Conception is usually not possible.
These females have short fingers and toes, upturned fingernails and arms that turn outward at the elbows (Cubitus Valgus). The hands and feet are swollen at birth. They have a wide neck, a small lower jaw, a high palate, low set ears and drooping eyelids.
They have a broad chest with widely spaced nipples. They are excessively sensitive to noise.
Investigations
Prenatal: If Turner syndrome is suspected during pregnancy, tests such as amniocentesis or chorionic villus sampling may be carried out to confirm the same.
Post-natal: Turner syndrome can be diagnosed on the basis of the physical characteristics of the woman. Hormonal profile and ultrasound imaging are done to confirm the diagnosis.
Treatment
Most patients with Turner syndrome are treated with hormone therapy. Typically growth hormone and estrogen are prescribed. If the hormone desires to become pregnant, hormone therapy during that phase is extremely necessary.
Counseling is recommended so that the patient is able to live a normal life. Regular check-ups by various specialists will ensure that she does not develop any major complications.
Facts and Figures
Every 1 in 2500 females is born with Turner’s syndrome.
