Aug 04, 2023
A missing or partially deleted X chromosome causes turner syndrome, a condition that mainly affects females. Turner syndrome can result in a wide range of medical and developmental problems, such as ovarian failure, short height, and heart defects.
Turner syndrome can be recognized during pregnancy, infancy, or the first few years of life. Sometimes it takes until a girl is in her adolescent or young adult years to diagnose turner syndrome in girls who have mild signs and symptoms.
Patients with Turner syndrome require ongoing medical care from a variety of specialists. The vast majority of girls and women may enjoy healthy, independent lives with regular examinations and the right treatment.
Most people are born with two sex chromosomes. The X and Y chromosomes are given to males by their mothers and fathers, respectively. X chromosome from both parents are given to a female chils. In females with Turner syndrome, one copy of the X chromosome is deleted, partially missing, or mutated.
Any of the following genetic changes could cause Turner syndrome:
Some of the symptoms which are associated with Turner syndrome are mentioned below:
Turner syndrome can be identified by a clinician through prenatal genetic testing done before to birth. Karyotyping is a laboratory technique used to diagnose the illness. Karyotyping, when carried out as part of prenatal testing, can identify any genetic abnormalities in the mother's chromosomes.
In order to check for the physical signs of Turner syndrome, your doctor may also request tests. These examinations could involve:
You can still live a full, happy life even if you have been diagnosed with Turner syndrome. There is currently no cure, but there are therapies that can help control symptoms and enhance your quality of life.
In children with Turner syndrome, growth hormone therapy might aid in height growth. The average age at which these daily injections begin and terminate is between 5 and 6 years old.
Another viable treatment is estrogen and progesterone replacement therapy. The development of secondary sex traits like pubic hair and breasts can be aided by these hormone replacements, and they can also help with the regularity of periods. The start of puberty is typically when these hormone replacements are started, and they may need to be continued for the majority of an adult's life.
Some of the complications associated with Turner syndrome are mentioned below:
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