what is turner syndrome

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    What is Turner Syndrome?

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    Turner Syndrome

    Turner syndrome or Ullrich-Turner syndrome (also known as "Gonadal dysgenesis")

    encompasses several conditions, of which monosomy X (absence of an entire sex

    chromosome) is most common. It is a chromosomal disorder in which all or part of one of the

    sex chromosomes is absent (naffected hmans have ! chromosomes, of which # are sex

    chromosomes). $ypical females have # X chromosomes, bt in $rner syndrome, one of

    those sex chromosomes is missing or has other abnormalities. In some cases, the missing

    chromosome is present in some cells bt not others, a condition referred to as mosaicism or

    %$rner mosaicism%.

    &ccrring in ' ot of every # girls, the syndrome manifests itself in a nmber of ways.$here are characteristic physical abnormalities, sch as short statre, swelling, broad chest,

    low hairline, low*set ears, and webbed necks. Girls with $rner syndrome typically

    experience gonadal dysfnction (non*working ovaries), which reslts in amenorrhea (absence

    of menstral cycle) and sterility. +oncrrent health concerns are also freently present,

    inclding congenital heart disease, hypothyroidism (redced hormone secretion by the

    thyroid), diabetes, vision problems, hearing concerns, and many other atoimmne diseases.

    -inally, a specific pattern of cognitive deficits is often observed, with particlar difficlties in

    visospatial, mathematical, and memory areas.

    Turner Syndrome Symptoms

    +ommon symptoms of $rner syndrome inclde

    • /hort statre

    0ymphedema (swelling) of the hands and feet• 1road chest (%%shield chest%%) and widely*spaced nipples

    http://www.news-medical.net/health/What-is-Turner-Syndrome.aspxhttp://www.news-medical.net/health/What-is-a-Chromosome.aspxhttp://www.news-medical.net/health/What-is-a-Chromosome.aspxhttp://www.news-medical.net/health/Hypothyroidism.aspxhttp://www.news-medical.net/health/What-are-Hormones.aspxhttp://www.news-medical.net/health/What-is-Diabetes.aspxhttp://www.news-medical.net/health/What-is-Autoimmune-Disease.aspxhttp://www.news-medical.net/health/What-is-Lymphedema.aspxhttp://www.news-medical.net/health/What-is-Lymphedema.aspxhttp://www.news-medical.net/health/What-is-a-Chromosome.aspxhttp://www.news-medical.net/health/What-is-a-Chromosome.aspxhttp://www.news-medical.net/health/Hypothyroidism.aspxhttp://www.news-medical.net/health/What-are-Hormones.aspxhttp://www.news-medical.net/health/What-is-Diabetes.aspxhttp://www.news-medical.net/health/What-is-Autoimmune-Disease.aspxhttp://www.news-medical.net/health/What-is-Lymphedema.aspxhttp://www.news-medical.net/health/What-is-Turner-Syndrome.aspx

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    • 0ow hairline

    • 0ow*set ears

    • 2eprodctive sterility

    • 2dimentary ovaries gonadal streak (nderdeveloped gonadal strctres)

    • 3menorrhea, or the absence of a menstral period

    • Increased weight, obesity 

    • /hield shaped thorax of heart

    • /hortened metacarpal I4 (of hand)

    • /mall fingernails

    +haracteristic facial featres• 5ebbed neck from cystic hygroma in infancy

    • +oarctation of the aorta

    • 6oor breast development

    • 7orseshoe kidney

    • 4isal impairments sclera, cornea, glacoma, etc.

    • 8ar infections and hearing loss 

    &ther symptoms may inclde a small lower 9aw (micrognathia), cbits valgs (trned*ot

    elbows), soft ptrned nails, palmar crease and drooping eyelids. 0ess common are

     pigmented moles, hearing loss, and a high*arch palate (narrow maxilla). $rner syndrome

    manifests itself differently in each female affected by the condition, and no two individals

    will share the same symptoms.

    Turner Syndrome Risk Factors

    2isk factors for $rner syndrome are not well known. :ondis9nctions increase with

    maternal age, sch as for  ;own syndrome, bt that effect is not clear for $rner syndrome. It

    is also nknown if there is a genetic predisposition present that cases the abnormality,

    thogh most researchers and doctors treating $rners women agree that this is highly

    nlikely.

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    $here is crrently no known case for $rner syndrome, thogh there are several theories

    srronding the sb9ect. $he only solid fact that is known today, is that dring conception

     part or all of the second sex chromosome is not transferred to the fets.

    Turner Syndrome Incidence

    3pproximately

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    Turner Syndrome Prognosis

    5hile most of the physical findings in $rner syndrome are harmless, there can be significant

    medical problems associated with the syndrome.

    Cardiovascular

    6rice et al. ('

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    ;ifferent karyotypes may have differing prevalence of cardiovasclar malformations. $wo

    stdies fond a prevalence of cardiovasclar malformations of ?C in a grop of pre !,X

    monosomy. 1t considering other karyotype grops, they reported a prevalence of #!.?C

    which may lead to a progressive valvlar dysfnction as evidenced by aortic stenosis or

    regrgitation.

    5ith a prevalence from '#.C to 'B.C (;awson*-alk et al., '

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    /ybert, '

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    • rowth hormone, either alone or with a low dose of androgen, will in!rease

    growth and "ro$a$ly nal adult height. rowth hormone is a""roved $y

    the /.S. )ood and 'rug Administration for treatment of Turner syndrome

    and is !overed $y many insuran!e "lans. There is eviden!e that this is

    e0e!tive, even in toddlers.

    • strogen re"la!ement thera"y has $een used sin!e the !ondition was

    des!ri$ed in 198 to "romote develo"ment of se!ondary se3ual

    !hara!teristi!s. strogens are !ru!ial for maintaining good $one integrity

    and tissue health.

    $his article is licensed nder the +reative +ommons 3ttribtion*/hare3like 0icense. It ses

    material from the 5ikipedia article on "$rner /yndrome" 3ll material adapted sed from

    5ikipedia is available nder the terms of the +reative +ommons 3ttribtion*/hare3like

    0icense. 5ikipedia itself is a registered trademark of the 5ikimedia -ondation, Inc.

    http://www.news-medical.net/health/Growth-Hormones-What-are-Growth-Hormones.aspxhttp://www.news-medical.net/health/Estrogen-What-is-Estrogen.aspxhttp://creativecommons.org/licenses/by-sa/3.0/http://creativecommons.org/licenses/by-sa/3.0/http://en.wikipedia.org/wiki/Turner_Syndromehttp://creativecommons.org/licenses/by-sa/3.0/http://creativecommons.org/licenses/by-sa/3.0/http://creativecommons.org/licenses/by-sa/3.0/http://www.news-medical.net/health/Growth-Hormones-What-are-Growth-Hormones.aspxhttp://www.news-medical.net/health/Estrogen-What-is-Estrogen.aspxhttp://creativecommons.org/licenses/by-sa/3.0/http://en.wikipedia.org/wiki/Turner_Syndromehttp://creativecommons.org/licenses/by-sa/3.0/http://creativecommons.org/licenses/by-sa/3.0/