Doctor insights on:
Turner Syndrome In Children
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
What to do if I want to work with babies/ young children that have turner syndrome. What kind of doctor or nurse, or specialist would that be.?
Hard to define: These kids need primary care doctors, geneticists, endocrinologists (hormone docs) and people who work with learning disabilities. You will find their numbers are not great in a given town at any one time, so if you are planning a field of study that would help them, you will need to broaden your scope to include many other diagnoses. ...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
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
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
Timing of error: At conception, the embryo begin duplicating the chromosomes (chms) donated by egg & sperm to form the 23 chromosome pairs. If one x chm didn't make it, you will only have a turner pattern (45 chms xo). If a normal xx pattern starts but an x is lost after several divisions the mosaic is created by having one normal 46xx & another 45xo cell lines replicating throughput the body. ...Read moreSee 1 more doctor answer
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
Perhaps: Females with turner's syndrome have only one normal x chromosome and have amenorrhea, no ovulation, and are sterile. There is a condition called mosaic where there may be a defective or partial x chromosome along with a normal one. Now, with modern technology such as oocyte donation some women with turner's may carry a pregnancy. There are other risks, however. ...Read more
Online resources: Turner syndrome is caused by absence of one of the female x chromosomes and can have several effects on growth and development. The genetics home reference is a good source for information on chromosomal conditions: http://ghr. Nlm. Nih. Gov/condition/turner-syndrome. Two other good sources are the turner syndrome society and foundation: http://turnersyndrome. Org ; www. Turnersyndromefoundation. Org. ...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 girl is born with 45 instead of 46 cms. The loss can affect 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 late childhood.Supportive care is needed ...Read moreSee 1 more doctor answer
Partial: Turner syndrome occurs when a girl only has one x chromosome. Mosaic turner syndrome occurs when some of the cells in a girl have two x chromosomes and the rest have one x chromosome. Women with mosaic turner syndrome can have all of the same problems as women with turner syndrome, but the severity tends to be milder. Short stature, sterility, heart disease, and learning problems can all occur. ...Read moreSee 1 more doctor answer
Genetic testing: For any suspected condition should be performed as soon as possible, even from birth. ...Read more
Variation of Theme: Most females have 2 x chromosomes as part of their genetic make-up in all cells. In classic ts females are born with 1 x chromosome in most or all cells. Patients who are mosaic are those who may be missing just part of an x or they could have some cells with 2 x's and others with only 1 x. There are other variations. Mosaic ts patients are usually not as severely affected as classic ts patients. ...Read more
Can Not Answer Yet: This question can not be answered without more information. Are you male or female? Are you shorter than average? If female have you regular periods? And more. Why are you concerned? ...Read more
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