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Turner Syndrome: Causes, Symptoms and Treatment

Thebirthdefectcalledturnersyndromeiscommoninfemales.Findoutaboutitssymptoms,diagnosisandtreatments.Turnersyndromeisachromosomaldisorderthataffectsthegrowthanddevelopmentoffemales.Althoughitisararedisorder,womenwiththisdisorderareshorterthannormalheightandhaveproblemsconceivingachild.InthisarticleWhatisTurnerSyndrome?SymptomsofTurnerSyndromeHowisTurnerSyndromeDiagnosed?TreatmentforTurnerSyndromeWhatisTurnerSyndrome?Mostofthegirlsarebornwith2Xchromosomes.Girlswithturnersyndromehaveonlyonechromosomeorapartofonechromosomeisfoundmissing.TheaffectsvarybecauseitdependsonhowtheXchromosomehasaffectedthedevelopmentofcellsofthebody.However,itisnotjusttheheightthatusuallygetsaffected,butthisdisorderpreventsnormalgrowthofovarieswhichhasitsimpactonthesexualdevelopmentofthegirlsandhercapabilitytoconceivechildaswell.Mostofthegirlswithturnersyndromedonotgrowupwithnormaldevelopmentsassociatedwithpubertyandaretreatedforthecondition.ResearchersareunabletosayexactlywhichgenesontheXchromosomeareresponsibleforthiscondition.SymptomsofTurnerSyndromeListedbelowaresomeofthecommonsymptomsofturnersyndrome.Thefirstandmostprominentsignofgirlbeingaffectedbyturnersyndromeisthatthegrowthofthechildgetshampered.Growthisalmostnormaltilltheageofthree,theyshowslowgrowthafterthatandduringpubertyusuallygrowthshootisfoundabsent.Normallygirlsbegintoproducesexhormonesattheageofpubertyandstarttheirperiodsaswellasdevelopbreasts.Butthosewiththisproblemhavetobetreatedduringpuberty.Mostofthewomenwithturnersyndromeareinfertile,yettheyhavenormalvaginaandwomb.Somegirlswithturnersyndromehaveearinfectionsinearlychildhoodandthismightcausehearinglossinsome.Normalintelligencewithgoodverbalandreadingskillsareusuallyfoundeveningirlswiththisdisorder.Somemayshowproblemwithfinefingermovementsandmathandmaylackmemoryskills.Someofthecommoncharacteristicsofapersoncopingwithturnersyndromeareasfollows:-Particularlywideneck-Loworvaguehairline-Broadchestandgapinnipples-Osteoporosisthatcanbetreatedbyhormonereplacementtherapy-Eyedisorderthatcanbecorrectedwithglasses-ChancesofdevelopinghighbloodpressureHowisTurnerSyndromeDiagnosed?Anultrasoundduringpregnancycansuspectturnersyndrome.Antenataltestscanbecarriedouttoconfirm.Ifheartorkidneyproblemisdetectedorthereisswellinginhandsandfeetatbirth,turnersyndromeissuspected.Ifthechildhaswebbedorwideneck.Ifchildiswithshortstature.Nopropersignsduringpubertyareobserved.TreatmentforTurnerSyndromeSinceturnersyndromeiscausedbecauseofthechromosomes,thereisnospecificcureforthiscondition.However,someoftheproblemsassociatedduetothisconditioncanbetreated.Forexample,withgrowthhormonetreatmentgrowthofthegirlcanbeenhancedandthegirlmightattainnormaladultheightaswell.Therearepossibilitiesofbetterresultsiftreatmentgetsstartedearlier.Oneofthetreatmentsisestrogenreplacementwhichisdoneattheageofpuberty.Ithelpsthegirlhaveproperdevelopmentincludingbreastgrowthandmenstrualperiods.InVitroFertilisation(IVF)canhelpsomewomengetpregnantandwithpropersupportivecareshecancontinuewiththepregnancyandevendeliverthebabythroughnormalprocess.Although,girlswithturnersyndromemayhavelearningdifficulties,butmostofthemcanreadandwritewellanddevelopgoodlanguageskillsalso.Girlswiththisconditionshouldbeadvisedtostayactiveandparticipateinsports.Ifaffectedemotionally,aprofessionaltherapistcanhelpbuildselfesteemanddealwithpracticalproblemsaswell.Althoughturnersyndromecannotbecured,thereishelpavailableatdifferentstagesofthepatient’slife.Dealingwiththeproblemmightnotbedifficult,butwithpropersupportthingscanbehandledeffectively.Whatisturnersyndrome?Whatarethesymptomsofturnersyndrome?Howisturnersyndromediagnosedandtreated?Discusshere.

The birth defect called turner syndrome is common in females. Find out about its symptoms, diagnosis and treatments.

Turner syndrome is a chromosomal disorder that affects the growth and development of females. Although it is a rare disorder, women with this disorder are shorter than normal height and have problems conceiving a child.

What is Turner Syndrome?

Most of the girls are born with 2 X chromosomes. Girls with turner syndrome have only one chromosome or a part of one chromosome is found missing. The affects vary because it depends on how the X chromosome has affected the development of cells of the body. However, it is not just the height that usually gets affected, but this disorder prevents normal growth of ovaries which has its impact on the sexual development of the girls and her capability to conceive child as well.

Most of the girls with turner syndrome do not grow up with normal developments associated with puberty and are treated for the condition. Researchers are unable to say exactly which genes on the X chromosome are responsible for this condition.

Symptoms of Turner Syndrome

Listed below are some of the common symptoms of turner syndrome.

The first and most prominent sign of girl being affected by turner syndrome is that the growth of the child gets hampered.

Growth is almost normal till the age of three, they show slow growth after that and during puberty usually growth shoot is found absent.

Normally girls begin to produce sex hormones at the age of puberty and start their periods as well as develop breasts. But those with this problem have to be treated during puberty.

Most of the women with turner syndrome are infertile, yet they have normal vagina and womb.

Some girls with turner syndrome have ear infections in early childhood and this might cause hearing loss in some.

Normal intelligence with good verbal and reading skills are usually found even in girls with this disorder. Some may show problem with fine finger movements and math and may lack memory skills.

Some of the common characteristics of a person coping with turner syndrome are as follows:
- Particularly wide neck
- Low or vague hairline
- Broad chest and gap in nipples
- Osteoporosis that can be treated by hormone replacement therapy
- Eye disorder that can be corrected with glasses
- Chances of developing high blood pressure

How is Turner Syndrome Diagnosed?

An ultrasound during pregnancy can suspect turner syndrome. Antenatal tests can be carried out to confirm.

If heart or kidney problem is detected or there is swelling in hands and feet at birth, turner syndrome is suspected.

If the child has webbed or wide neck.

If child is with short stature.

No proper signs during puberty are observed.

Treatment for Turner Syndrome

Since turner syndrome is caused because of the chromosomes, there is no specific cure for this condition. However, some of the problems associated due to this condition can be treated. For example, with growth hormone treatment growth of the girl can be enhanced and the girl might attain normal adult height as well. There are possibilities of better results if treatment gets started earlier.

One of the treatments is estrogen replacement which is done at the age of puberty. It helps the girl have proper development including breast growth and menstrual periods. In Vitro Fertilisation (IVF) can help some women get pregnant and with proper supportive care she can continue with the pregnancy and even deliver the baby through normal process.

Although, girls with turner syndrome may have learning difficulties, but most of them can read and write well and develop good language skills also. Girls with this condition should be advised to stay active and participate in sports. If affected emotionally, a professional therapist can help build self esteem and deal with practical problems as well.

Although turner syndrome cannot be cured, there is help available at different stages of the patient’s life. Dealing with the problem might not be difficult, but with proper support things can be handled effectively.

What is turner syndrome? What are the symptoms of turner syndrome? How is turner syndrome diagnosed and treated? Discuss here.