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    Turner Syndrome

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    stoneage989
    Turner's syndrome is a genetic condition that affects females and is caused by the complete or partial absence of one of the X chromosomes. It was first described in 1938 by Dr. Henry Turner. Common signs and symptoms include short stature, heart abnormalities, kidney issues, infertility, and learning difficulties. Treatment involves growth hormone injections, estrogen replacement therapy, medication for related conditions like high blood pressure, and lifestyle management like healthy diet and exercise. Regular medical checkups are important to monitor symptoms and treatment.

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    Turner Syndrome

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    stoneage989
    2K views24 pages
    Turner's syndrome is a genetic condition that affects females and is caused by the complete or partial absence of one of the X chromosomes. It was first described in 1938 by Dr. Henry Turner. Common signs and symptoms include short stature, heart abnormalities, kidney issues, infertility, and learning difficulties. Treatment involves growth hormone injections, estrogen replacement therapy, medication for related conditions like high blood pressure, and lifestyle management like healthy diet and exercise. Regular medical checkups are important to monitor symptoms and treatment.

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    Turner's syndrome is a genetic condition that affects females and is caused by the complete or partial absence of one of the X chromosomes. It was first described in 1938 by Dr. Henry Turner. Common signs and symptoms include short stature, heart abnormalities, kidney issues, infertility, and learning difficulties. Treatment involves growth hormone injections, estrogen replacement therapy, medication for related conditions like high blood pressure, and lifestyle management like healthy diet and exercise. Regular medical checkups are important to monitor symptoms and treatment.

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    Download as pptx, pdf, or txt
    2K views24 pages

    Turner Syndrome

    Uploaded by

    stoneage989
    Turner's syndrome is a genetic condition that affects females and is caused by the complete or partial absence of one of the X chromosomes. It was first described in 1938 by Dr. Henry Turner. Common signs and symptoms include short stature, heart abnormalities, kidney issues, infertility, and learning difficulties. Treatment involves growth hormone injections, estrogen replacement therapy, medication for related conditions like high blood pressure, and lifestyle management like healthy diet and exercise. Regular medical checkups are important to monitor symptoms and treatment.

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    Turners

    Syndrome

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

    Turners Syndrome
    Turners Syndrome is caused by nondisjunction.
    Turner syndrome is a chromosomal condition
    related to the X chromosome also called X0
    syndrome.
    Females who have Tuners Syndrome are
    missing one of their X chromosomes in each cell.

    Who is Generally Affected


    Only women can have Turners
    Syndrome.
    Often occurs in 1 out of 2,500
    women everywhere.

    History of turner syndrome


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

    Causes 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.

    Is Turner syndrome inherited?


    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.

    Types of Turner syndrome


    1. X-Chromosome Monosomy/classic
    turner syndrome
    2. 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

    Symptoms
    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.
    Its likely they will be infertile (unable to have a
    baby) without assistance.

    Associated conditions:
    heart murmur
    kidney and urinary tract
    problems
    Underactive thyroid gland
    high blood pressure
    osteoporosis
    scoliosis (abnormal curvature of
    the spine)
    obesity
    lymphoedema

    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

    Treatments for Turners Syndrome


    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 Turners Syndrome


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

    Lifestyle with Turners 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.

    Treatments for Turners Syndrome


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

    Thank you

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