Turner’s Syndrome

• The condition of having an abnormal number of chromosomes, or having chromosomes with missing or extra pieces.

CHROMOSOMAL ABNORMALITY

• Turner’s Syndrome is caused by nondisjunction.• Turner syndrome is a chromosomal condition

related to the X chromosome also called X0 syndrome.

• Females who have Tuner’s Syndrome are missing one of their X chromosomes in each cell.

Turner’s Syndrome

• Only women can have Turner’s Syndrome.

• Often occurs in 1 out of 2,500 women everywhere.

Who is Generally Affected

• It was first described in 1938 by Dr. Henry Turner who observed a set of common physical features in some of his patients.

History of turner syndrome

• Turner syndrome is caused by a missing or incomplete X chromosome.

• The genes affected are involved in growth and sexual development.

Causes of turner syndrome

• Researchers have identified one gene called SHOX that is important for bone development and growth.

• The loss of one copy of this gene likely causes short stature and skeletal abnormalities in women with Turner syndrome.

Causes of turner syndrome

• Most cases of Turner syndrome are not inherited.• An error in cell division called nondisjunction can

result in reproductive cells with an abnormal number of chromosomes.

Is Turner syndrome inherited?

Types of Turner syndrome1. X-Chromosome Monosomy/classic

turner syndrome2. X-Chromosome Mosaicism

X-Chromosome Monosomy• About 50 percent of individuals

with Turner syndrome have Monosomy X, which means each cell in the individual's body has only one copy of the X chromosome instead of the usual two sex chromosomes.

X-Chromosome Mosaicism

• About 30 percent of girls with the disorder are missing the X chromosome in just some of their cells.

• This mixed chromosome pattern is known as Turner mosaic. [46XX/45XO]

• Girls with this pattern may have fewer symptoms because they still have some normal (XX) cells.

Normal, fertilized egg

Normal Mitosis

X chromosome lost from developing embryo

SIGNS AND SYMPTOMS BY SADAF ISHAQ

• Before birth:• Large fluid collection on the back

of the neck or other abnormal fluid collections

• Heart abnormalities• Abnormal kidneys 

Symptoms

Symptoms

• Growth:Babies with Turner syndrome may grow at a normal rate until three years of age. After this age, their growth slows down.• Ovaries:• they may not start their monthly periods normally. • It’s likely they will be infertile (unable to have a

baby) without assistance.

Symptoms

heart murmur  kidney and urinary tract problems  Underactive thyroid gland  high blood pressure osteoporosis scoliosis (abnormal curvature of

the spine) obesity  lymphoedema

Associated conditions:

• Learning difficulties:Most girls with Turner syndrome have good language and reading skills.• Social intelligence:About a third of girls with Turner syndrome have problems understanding social relationships.

Attention and hyperactivity problems:• physical over activity, such as constant

fidgeting and restlessness • acting impulsively, such as breaking

rules or having no sense of danger  

TREATMENT OF TURNER SYNDROME BY RUBEENA ASLAM

• In some individuals, growth hormone injections are beneficial.

• Estrogen replacement therapy and later on in both estrogen and progesterone injections are given.

• Medication for high-blood pressure.• Regular health checks are important!

Treatments for Turner’s Syndrome

• Pregnancy and fertility treatment

Some women with Turner syndrome can become pregnant with the donation of an egg or embryo• Psychological therapyPsychological therapy, such as counselling or cognitive behavioral therapy (CBT), may be recommended.

Treatments for Turner’s Syndrome

• Frequent trips to the doctor.• Follow your hormone-shot schedule.• Periodic follow-up with a heart

specialist.• Healthy lifestyle habits, such as

maintaining proper weight and exercising regularly.

Lifestyle with Turner’s Syndrome

• Learning difficultiesAffected women can speak to her health visitor, or the teacher at your child's school or nursery.

Treatments for Turner’s Syndrome

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