what is turner syndrome
TRANSCRIPT
-
8/9/2019 What is Turner Syndrome
1/7
What is Turner Syndrome?
•
•
•
• inShare
•
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
-
8/9/2019 What is Turner Syndrome
2/7
• 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.
http://www.news-medical.net/health/What-is-Obesity.aspxhttp://www.news-medical.net/health/What-is-Obesity.aspxhttp://www.news-medical.net/health/What-is-Glaucoma.aspxhttp://www.news-medical.net/health/What-is-Glaucoma.aspxhttp://www.news-medical.net/health/What-is-Glaucoma.aspxhttp://www.news-medical.net/health/Hearing-loss-What-is-hearing-loss.aspxhttp://www.news-medical.net/health/Down-Syndrome-What-is-Down-Syndrome.aspxhttp://www.news-medical.net/health/Down-Syndrome-What-is-Down-Syndrome.aspxhttp://www.news-medical.net/health/Down-Syndrome-What-is-Down-Syndrome.aspxhttp://www.news-medical.net/health/What-is-Obesity.aspxhttp://www.news-medical.net/health/What-is-Glaucoma.aspxhttp://www.news-medical.net/health/Hearing-loss-What-is-hearing-loss.aspxhttp://www.news-medical.net/health/Down-Syndrome-What-is-Down-Syndrome.aspx
-
8/9/2019 What is Turner Syndrome
3/7
$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
-
8/9/2019 What is Turner Syndrome
4/7
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. ('
-
8/9/2019 What is Turner Syndrome
5/7
;ifferent karyotypes may have differing prevalence of cardiovasclar malformations. $wo
stdies fond a prevalence of cardiovasclar malformations of ?C in a grop of pre !,X
monosomy. 1t considering other karyotype grops, they reported a prevalence of #!.?C
which may lead to a progressive valvlar dysfnction as evidenced by aortic stenosis or
regrgitation.
5ith a prevalence from '#.C to 'B.C (;awson*-alk et al., '
-
8/9/2019 What is Turner Syndrome
6/7
/ybert, '
-
8/9/2019 What is Turner Syndrome
7/7
• rowth hormone, either alone or with a low dose of androgen, will in!rease
growth and "ro$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/