Turner Syndrome

Turner Syndrome (TS) is a chromosomal disorder that exclusively affects 1 in every 2000 live female births. Each human being is born with two sex chromosomes. A male is born with one X and one Y chromosome, while a female is born with two X chromosomes. This syndrome occurs when one of the X sex chromosomes is missing or partially missing. Turner syndrome can cause different medical and developmental problems which requires ongoing medical care from a variety of specialists. The syndrome manifests differently depending on the stage of life. It is usually diagnosed prenatally, but sometimes can be delayed until late teen years.

DNA screening is now common for Turner syndrome which helps screen certain chromosomal abnormalities with a maternal blood sample. Another screening method is a prenatal ultrasound which can present with heart or kidney abnormalities or edema around the neck. Once the baby is born, some signs that can indicate turner’s syndrome are weblike neck, low-set ears, narrow fingernails, below average height, receding jaw, and short fingers. As the child reaches their teen years and adulthood, they may notice slowed growth, primary amenorrhea, lack of sexual characteristics, and inability to conceive a child. Having Turner’s syndrome can lead to complications such as cardiac problems, hypertension, hearing loss, vision issues, autoimmune disorders, skeletal problems, and learning disabilities.

There is no specific cause of Turner’s syndrome which also means that there is no way it can be prevented since it is a congenital problem. Research shows that getting pregnant at a later age does not increase the risk or chances of giving birth to a baby with Turner syndrome. There are three different types of Turner syndrome which include monosomy X, mosaic turner syndrome, and inherited turner syndrome. Monosomy X occurs when one of the X chromosomes is completely missing which affects about 45% of the people with TS. Mosaic Turner syndrome occurs when some of the baby’s cells have a pair of X chromosomes, while the other cells only one X chromosome. Inherited Turner Syndrome occurs when the parents are born with TS and pass it onto their children, but this is very rare.

The treatment for Turner syndrome can be very extensive depending on the severity of the disorder. The complications are symptoms that are usually treated by the respective specialist. There are also many hormone therapies that are used to treat TS. Human growth hormone therapy can be used to increase height by a few inches. There is also estrogen therapy that can help girls develop secondary sexual characteristics, begin menstruation, help the uterus grow, and improve brain development. The last hormone therapy is cyclic progestins which induces cyclic menstrual periods and stimulates normal puberty.

References:

Cleveland Clinic. (2022). Turner syndrome: Causes, symptoms, diagnosis & treatment. Cleveland Clinic. Retrieved September 4, 2022, from https://my.clevelandclinic.org/health/diseases/15200-turner-syndrome

Mayo Clinic. (2022, February 11). Turner syndrome. Mayo Clinic. Retrieved September 4, 2022, from https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782