Doctor insights on:
Does Turner Syndrome Cause Celiac
Lack of chromosome: Normal humans have 22 pairs of regular chromosomes (chms) and one pair of sex chms .At conception you are supposed to get one of each pair from each parent. If one of the sex (X) chms is lost from the egg, the fetus (which can survive the mistake) will be born with 22 pr of regular chms and only one X.The defect occurs in the formation of the egg. The effect on the kid varies. ...Read moreSee 1 more doctor answer
What causes turner syndrome, noonan syndrome, & the rare klippel-fell syndrome? What happens during fetal development that causes these conditions?
A genetic accident: During formation of the egg or sperm can leave out an x chromosome in either one. A fetus whose genetic make-up includes the germ cell missing a chr. X has turner syndrome. One of 8 different genetic mutations is passed on to a fetus by 1 parent or happens spontaneously to cause noonan syndrome. 2 related genetic mutations are passed on to the fetus by 1 parent to cause klippel-feil syndrome. ...Read more
Turner syndrome: Symptoms and features of turner syndrome: thick neck, wide chest with distant nipples, osteoporosis, short stature, higher risk of diabetes, osteoporosis, heart murmur secondary to heart disease, arms turning outwards at the elbows, not having periods during pubertal age, learning disability. ...Read more
Chromosome study: There are some suggestive physical features that will lead some to consider the label. The definitive test is a chromosome study. That can come up with a normal study, a classical turner , 45x0, a mosaic or other non-classical form. ...Read more
Incidence of Turner: About 1/2, 500 females are born with turner's syndrome. Some may have characteristic findings while others won't be diagnosed until later in life depending on features present. Nearly all have small stature noted by early childhood. Genetic testing identifies girls with turner's syndrome. If you are concerned that your daughter may have this, please discuss further with her pediatrician. ...Read more
Easier ways to tell: While ultrasound can give some hopeful results, you can get a definitive analysis by doing the NIPP.This test was developed early on to verify paternity, but it uses fetal cells that can be found in mother's blood as early as 8 weeks.These can be used for a full chromosome assessment including Turner syndrome. ...Read moreSee 1 more doctor answer
Growth hormone?: If that is what you're referring to for shots, then self- administration is possible depending on the age and maturity of the child. Usually parents give it. ...Read more
Will children with turner syndrome, if not treated with growth hormones jabs, still grow tall naturally?
Very unlikely: There are separate growth charts for untreated girls with turner's. The charts clearly show shorter final adultheight compared to regular charts. In fact, every short girl with no other signs/symptoms of turner's, should be evaluated to rule out turner's. ...Read moreSee 2 more doctor answers
Can you tell me how can the chromosomal conditions , trisomy x, xyy syndrome and turner syndrome differ?
Good online sites: Xxx and xyy have relatively little impact on those who have them and are usually incidental findings -- this is actually true despite the hoopla over xyy. I have three physician colleagues who have turner's xo and do fine. http://ghr.nlm.nih.gov/ is really good (thanks uncle sam). ...Read more
I have mosaic Turner syndrome and my karyotype is 45x. Since I don't have typical female chromosomes does this mean I am intersex?
Hi dr I have recently been diagnosed with parsonage Turner syndrome. I had a full blood work up done. The only numbers out of the scope of normal are ?
Turner Syndrome: Turner syndrome occurs when there is one x chromosome missing.Boys get y chromosome from the fatther and x from mother, girls get x from the father and x from the mother.In turner syndrome there is complete absence of one x chromosome, it can be because of error in fathers sperm, or an error in mothers egg.So it can be from fathers sperm or mother egg, resulting in all cells in body with only one x ch. ...Read more
45 X/0 Pattern: At conception, one half of a set of 46 (23pairs) chromosomes (cms) is brought from egg & sperm.If the combination is missing one x of the sex cms, a female is born with 45 instead of 46 cms, to reflect the loss.The lost cms can effect every cell in the body, resulting in a variety of heart, kidney, brain or other problems. It also may cause no specific problem & not be noticed until lat childhood. ...Read more
Turners Syndrome: Turner syndrome is caused in females when there is absence of one xchromosime, the girls are born with one x chromosome and the features are.Short stature, broad chest, low hairline, low set ears and webbed neck.There is non functioning ovaries and they do not get menstruation.They are more prone to congenital heartdisease, hypothyriodism, diabetes and few other conditions. ...Read more
Compressed iliac vei: May- thurner syndrome classically refer to a compression of the left common iliac vein by the iliac artery . This result in left leg pain, swelling and deep vein thrombosis. It has now been expanded and is now called non thrombotic iliac vein lesions (nivl), to include both the right and left iliac veins.). ...Read more
Detection/support: At diagnosis, there are tests that need to be done to look for hidden problems in the heart and blood vessels. Most then need normal care in early childhood until they get close to expected puberty. Referral to a pediatric endocrinologist (hormone doc) will assist their short height and transition into female development. Counseling with a geneticist when she becomes older can help her understand ...Read moreSee 1 more doctor answer
I looked it up: This syndrome can begin with severe shoulder or arm pain followed by weakness and numbness[Those who suffer from Parsonage–Turner experience acute, sudden-onset pain radiating from the shoulder to the upper arm. Affected muscles become weak and atrophied.. This is from Wikipedia - I had never heard of it ...Read more
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