turners-syndrome
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Turners Syndrome

Turners Syndrome

Last Reviewed : 12/29/2020
Turners Syndrome

Turner syndrome (TS) also known as Ullrich–Turner syndrome, gonadal dysgenesis, and 45,X, is a condition in which a femaleis partly or completely missing an X chromosome. Signs and symptoms vary among those affected. Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth. Typically they arewithout menstrual periods, do not develop breasts, and are unable to have children. Heart defects, diabetes, and low thyroid hormone occur more frequently. Most people with TS have normal intelligence. Many, however, have troubles with spatial visualization such as that needed for mathematics. Vision and hearing problems occur more often.

Turner syndrome is not usually inherited from a person's parents. No environmental risks are known and the mother's age does not play a role. Turner syndrome is due to a chromosomal abnormality in which all or part of one of the X chromosomes is missing or altered. While most people have 46 chromosomes, people with TS usually have 45. The chromosomal abnormality may be present in just some cells in which case it is known as TS with mosaicism. In these cases, the symptoms are usually fewer and possibly none occur at all. Diagnosis is based on physical signs and genetic testing.

No cure for Turner syndrome is known. Treatment, however, may help with symptoms. Human growth hormone injections during childhood may increase adult height. Estrogen replacement therapy can promote development of the breasts and hips. Medical care is often required to manage other health problems with which TS is associated.

Turner syndrome occurs in between one in 2000 and one in 5000 females at birth. All regions of the world and cultures are affected about equally. People with TS have a shorter life expectancy, mostly due to heart problems and diabetes. Henry Turnerfirst described the condition in 1938. In 1964, it was determined to be due to a chromosomal abnormality.

We researched this topic for you and found the following best online resources. They are categorized into basic, advanced, and research level based on the extent of information you need. You will be taken to the respective websites by pressing on the links below.

 

Basic information:

http://learn.genetics.utah.edu/content/disorders/chromosomal/turner/ learn genetics turner syndrome

http://www.mayoclinic.org/diseases-conditions/turner-syndrome/basics/definition/con-20032572 turner syndrome

http://kidshealth.org/en/teens/turner.html turner syndrome

http://www.nhs.uk/conditions/turners-syndrome/pages/introduction.aspx turner syndrome

http://www.medicinenet.com/turner_syndrome/article.htm turner syndrome

https://www.genome.gov/19519119/learning-about-turner-syndrome/ national human genome research institute

https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/turners-syndrome turner syndrome

http://www.healthline.com/health/turner-syndrome turner syndrome

http://www.webmd.com/children/turner-syndrome turner syndrome

https://www.msdmanuals.com/home/children's-health-issues/chromosomal-and-genetic-abnormalities/turner-syndrome turner syndrome

https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=90&contentid=p02421 university og rochester medical center turner syndrome

http://www.healthofchildren.com/t/turner-syndrome.html encyclopedi a of children health turner syndrome

http://www.med.umich.edu/yourchild/topics/turners.htm university of michigan turner syndrome

http://www.nytimes.com/health/guides/disease/turner-syndrome/overview.html newyork times turner syndrome

http://www.aboutkidshealth.ca/en/healthaz/conditionsanddiseases/geneticdisorders/pages/turnersyndrome.aspx turner syndrome

https://my.clevelandclinic.org/childrens-hospital/health-info/diseases-conditions/hic-turner-syndrome turner syndrome

http://www.newhealthadvisor.com/turner-syndrome-photos.html turner syndrome

http://umm.edu/health/medical/ency/articles/turner-syndrome turner syndrome

http://www.yourhormones.info/endocrine_conditions/turner_syndrome.aspx turner syndrome

https://pedclerk.bsd.uchicago.edu/page/turner-syndrome peadiatrics clerkship niversity of chicago turner syndrome

http://www.everydayhealth.com/turner-syndrome/ turner syndrome

 

Advanced information:

https://ghr.nlm.nih.gov/condition/turner-syndrome#synonyms genetic home referance turner syndrome

http://rarediseases.org/rare-diseases/turner-syndrome/ nord turner syndrome

http://emedicine.medscape.com/article/949681-overview turner syndrome

http://www.genetics.edu.au/publications-and-resources/genetics-fact-sheets/factsheetturner centre for genetics education fact sheet 40| turner syndrome

http://www.medicalnewstoday.com/articles/176083.php turner syndrome

http://patient.info/health/turner-syndrome-leaflet turner syndrome

http://www.orpha.net/consor/cgi-bin/oc_exp.php?lng=gb&expert=881.0 turner syndrome

http://www.geneticalliance.org.uk/docs/translations/english/22-turner-t.pdf turner syndrome

http://www.aafp.org/afp/2007/0801/p405.html turner syndrome

http://www.turnersyndrome.co.nz/about-turner-syndrome.aspx turner syndrome support group nz incorporated turner syndrome

http://radiopaedia.org/articles/turner-syndrome turner syndrome

http://press.endocrine.org/doi/full/10.1210/jcem.86.7.7683 ? the journal of clinical endocrinology & metabolism>volume 86, issue 7 recommendations for the diagnosis and management of turner syndrome - see more at: http://press.endocrine.org/doi/full/10.1210/jcem.86.7.7683#sthash.6trdesld.dpuf doi: http://dx.doi.org/10.1210/jcem.86.7.7683

http://www.medscape.org/viewarticle/445555 turner syndrome

http://www.britannica.com/science/turner-syndrome turner syndrome

http://www.dermnetnz.org/systemic/turner.html turner syndrome

http://syndromespedia.com/turners-syndrome-pictures-symptoms-treatment-life-expectancy-causes.html syndromes pedia.com turner syndrome

http://www.cngof.asso.fr/d_tele/rpc_turner_et_gro_090723_en.pdf turner syndrome and pregnancy clinical practice recommendations turner syndrome

http://www.fpnotebook.com/endo/sex/trnrssyndrm.htm family practise note book turner syndrome

 

Research:

http://pediatrics.aappublications.org/content/111/3/692 revised 96(6):1166pediatrics march 2003, volume 111 / issue 3 health supervision for children with turner syndrome by jaime l. frías et al.,

http://www.nejm.org/doi/full/10.1056/nejmra030360 turner's syndrome by virginia p. sybert, m.d., and elizabeth mccauley, ph.d. n engl j med 2004; 351:1227-1238september 16, 2004doi: 10.1056/nejmra030360

http://www.sciencedirect.com/science/article/pii/s2214623714000179 current controversies in turner syndrome: genetic testing, assisted reproduction, and cardiovascular risks amanda ackermann, vaneeta bamba, doi:10.1016/j.jcte.2014.05.003 journal of clinical & translational endocrinology volume 1, issue 3, september 2014, pages 61–65

http://www.scielo.br/scielo.php?script=sci_arttext&pid=s1516-31802009000600010 sao paulo med. j. vol.127 no.6 são paulo nov. 2009 http://dx.doi.org/10.1590/s1516-31802009000600010 review article:y chromosome in turner syndrome: review of the literature by rose mary rocco de oliveira

http://rbej.biomedcentral.com/articles/10.1186/s12958-015-0055-7 reproductive and obstetric outcomes in mosaic turner’s syndrome: a cross-sectional study and review of the literature by emek doger et al.,reproductive biology and endocrinology201513:59 doi: 10.1186/s12958-015-0055-7

http://indianpediatrics.net/apr1995/433.pdf a clinical and cytogenetic study of turner syndrome by mohnish suri et al., volume 32-april 1995

http://jnrbm.biomedcentral.com/articles/10.1186/1477-5751-3-6 immunological parameters in girls with turner syndrome by annika e stenberg et al., journal of negative results in biomedicine20043:6 doi: 10.1186/1477-5751-3-6

http://www.apeg.org.au/portals/0/documents/turner_posstate.pdf turner syndrome management guidelines australasian paediatric endocrine group – november 2003 by george werther, with advice from margaret zacharin

http://onlinelibrary.wiley.com/doi/10.1002/art.27270/pdf autoimmune diseases in women with turner’s syndrome by kristian t. jørgensen et al., arthritis & rheumatism vol. 62, no. 3, march 2010, pp 658–666 doi 10.1002/art.27270

suttur ms, mysore sr, krishnamurthy b, nallur rb. rare association of turner syndrome with neurofibromatosis type 1 and tuberous sclerosis complex. indian j hum genet [serial online] 2009 [cited 2016 may 4];15:75-7. available from: http://www.ijhg.com/text.asp?2009/15/2/75/55220

http://www.jemds.com/data_pdf/booma---divya---shru-.pdf jemds.com original article journal of evolution of medical and dental sciences/ eissn- 2278-4802, pissn- 2278-4748/ vol. 4/ issue 101/ dec. 17, 2015 page 16622 pattern of chromosomal anomalies in dysmorphic children and their clinical correlation by v. booma, b. mohamed ansar ali.

 

Other helpful resources(support groups):

http://www.turnersyndrome.org/ turner syndrome

http://tss.org.uk/ turner syndrome

http://www.turnersyndromefoundation.org/ turner syndrome

http://www.turnersyndrome.ca/ canada foundation

http://tsint.org/ turner syndrome international

 

Related videos:

https://www.youtube.com/watch?v=yqg8o5b4lkg turner syndrome

https://www.youtube.com/watch?v=aowhl33ltds turner syndrome

https://www.youtube.com/watch?v=fqg3yev9sa0 women and girls with turner syndrome

https://www.youtube.com/watch?v=ldjb-fr-pko turner syndrome - njn news healthwatch report

https://www.youtube.com/watch?v=66jep_jrle0 turner syndrome

https://www.youtube.com/watch?v=ztqx5ly17r4 turner syndrome diaries - overview

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