Format

Send to:

Choose Destination

Turner syndrome(MX)

MedGen UID:
21734
Concept ID:
C0041408
Disease or Syndrome
Synonyms: 45, X Syndrome; Bonnevie-Ulrich syndrome; Chromosome X Monosomy X; Gonadal Dysgenesis (45,X); Monosomy X; MX; Schereshevkii Turner Syndrome; Turner Varny Syndrome; Ullrich-Turner syndrome
SNOMED CT: Turner's syndrome (38804009); TS - Turner's syndrome (38804009); Turner syndrome (38804009); Pterygolymphangiectasia syndrome (38804009)
 

Definition

Turner syndrome is a chromosomal condition that affects development in females. The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. An early loss of ovarian function (ovarian hypofunction or premature ovarian failure) is also very common. The ovaries develop normally at first, but egg cells (oocytes) usually die prematurely and most ovarian tissue degenerates before birth. Many affected girls do not undergo puberty unless they receive hormone therapy, and most are unable to conceive (infertile). A small percentage of females with Turner syndrome retain normal ovarian function through young adulthood.About 30 percent of females with Turner syndrome have extra folds of skin on the neck (webbed neck), a low hairline at the back of the neck, puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, or kidney problems. One third to one half of individuals with Turner syndrome are born with a heart defect, such as a narrowing of the large artery leaving the heart (coarctation of the aorta) or abnormalities of the valve that connects the aorta with the heart (the aortic valve). Complications associated with these heart defects can be life-threatening.Most girls and women with Turner syndrome have normal intelligence. Developmental delays, nonverbal learning disabilities, and behavioral problems are possible, although these characteristics vary among affected individuals.
[from GHR]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTurner syndrome
Follow this link to review classifications for Turner syndrome in Orphanet.

Professional guidelines

PubMed

Gregg AR, Skotko BG, Benkendorf JL, Monaghan KG, Bajaj K, Best RG, Klugman S, Watson MS
Genet Med 2016 Oct;18(10):1056-65. Epub 2016 Jul 28 doi: 10.1038/gim.2016.97. PMID: 27467454
Dondorp W, de Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, Chitty LS, Fellmann F, Forzano F, Hall A, Henneman L, Howard HC, Lucassen A, Ormond K, Peterlin B, Radojkovic D, Rogowski W, Soller M, Tibben A, Tranebjærg L, van El CG, Cornel MC; European Society of Human Genetics.; American Society of Human Genetics.
Eur J Hum Genet 2015 Nov;23(11):1438-50. Epub 2015 Mar 18 doi: 10.1038/ejhg.2015.57. PMID: 25782669Free PMC Article
Erbel R, Aboyans V, Boileau C, Bossone E, Bartolomeo RD, Eggebrecht H, Evangelista A, Falk V, Frank H, Gaemperli O, Grabenwöger M, Haverich A, Iung B, Manolis AJ, Meijboom F, Nienaber CA, Roffi M, Rousseau H, Sechtem U, Sirnes PA, Allmen RS, Vrints CJ; ESC Committee for Practice Guidelines.
Eur Heart J 2014 Nov 1;35(41):2873-926. Epub 2014 Aug 29 doi: 10.1093/eurheartj/ehu281. PMID: 25173340

Recent clinical studies

Etiology

Wen J, Trolle C, Viuff MH, Ringgaard S, Laugesen E, Gutmark EJ, Subramaniam DR, Backeljauw P, Gutmark-Little I, Andersen NH, Mortensen KH, Gravholt CH
J Cardiovasc Magn Reson 2018 Dec 13;20(1):80. doi: 10.1186/s12968-018-0497-0. PMID: 30541571Free PMC Article
Gibson CE, Boodhansingh KE, Li C, Conlin L, Chen P, Becker SA, Bhatti T, Bamba V, Adzick NS, De Leon DD, Ganguly A, Stanley CA
Horm Res Paediatr 2018;89(6):413-422. Epub 2018 Jun 14 doi: 10.1159/000488347. PMID: 29902804Free PMC Article
Shin JY, Kim BH, Kim YK, Kim TH, Kim EH, Lee MJ, Kim JH, Jeon YK, Kim SS, Kim IJ
BMC Endocr Disord 2018 May 10;18(1):27. doi: 10.1186/s12902-018-0253-3. PMID: 29747617Free PMC Article
Corbitt H, Maslen C, Prakash S, Morris SA, Silberbach M
Am J Med Genet A 2018 Feb;176(2):277-282. Epub 2017 Dec 15 doi: 10.1002/ajmg.a.38584. PMID: 29243875Free PMC Article
Ibarra-Gasparini D, Altieri P, Scarano E, Perri A, Morselli-Labate AM, Pagotto U, Mazzanti L, Pasquali R, Gambineri A
Endocrine 2018 Mar;59(3):651-660. Epub 2017 Jun 7 doi: 10.1007/s12020-017-1336-z. PMID: 28593616

Diagnosis

Wen J, Trolle C, Viuff MH, Ringgaard S, Laugesen E, Gutmark EJ, Subramaniam DR, Backeljauw P, Gutmark-Little I, Andersen NH, Mortensen KH, Gravholt CH
J Cardiovasc Magn Reson 2018 Dec 13;20(1):80. doi: 10.1186/s12968-018-0497-0. PMID: 30541571Free PMC Article
Gibson CE, Boodhansingh KE, Li C, Conlin L, Chen P, Becker SA, Bhatti T, Bamba V, Adzick NS, De Leon DD, Ganguly A, Stanley CA
Horm Res Paediatr 2018;89(6):413-422. Epub 2018 Jun 14 doi: 10.1159/000488347. PMID: 29902804Free PMC Article
Shin JY, Kim BH, Kim YK, Kim TH, Kim EH, Lee MJ, Kim JH, Jeon YK, Kim SS, Kim IJ
BMC Endocr Disord 2018 May 10;18(1):27. doi: 10.1186/s12902-018-0253-3. PMID: 29747617Free PMC Article
Corbitt H, Maslen C, Prakash S, Morris SA, Silberbach M
Am J Med Genet A 2018 Feb;176(2):277-282. Epub 2017 Dec 15 doi: 10.1002/ajmg.a.38584. PMID: 29243875Free PMC Article
Ibarra-Gasparini D, Altieri P, Scarano E, Perri A, Morselli-Labate AM, Pagotto U, Mazzanti L, Pasquali R, Gambineri A
Endocrine 2018 Mar;59(3):651-660. Epub 2017 Jun 7 doi: 10.1007/s12020-017-1336-z. PMID: 28593616

Therapy

Amedro P, Tahhan N, Bertet H, Jeandel C, Guillaumont S, Mura T, Picot MC
J Pediatr Endocrinol Metab 2017 Aug 28;30(8):863-868. doi: 10.1515/jpem-2017-0026. PMID: 28753541
Nguyen HH, Wong P, Strauss BJ, Jones G, Ebeling PR, Milat F, Vincent A
Climacteric 2017 Oct;20(5):436-441. Epub 2017 May 19 doi: 10.1080/13697137.2017.1325461. PMID: 28523940
Juloski J, Dumančić J, Šćepan I, Lauc T, Milašin J, Kaić Z, Dumić M, Babić M
Arch Oral Biol 2016 Nov;71:10-15. Epub 2016 Jun 16 doi: 10.1016/j.archoralbio.2016.06.012. PMID: 27372203
Wagner P, Sonek J, Hoopmann M, Abele H, Kagan KO
Ultrasound Obstet Gynecol 2016 Oct;48(4):446-451. doi: 10.1002/uog.15829. PMID: 26611869
Ríos Orbañanos I, Vela Desojo A, Martinez-Indart L, Grau Bolado G, Rodriguez Estevez A, Rica Echevarria I
Endocrinol Nutr 2015 Dec;62(10):499-506. Epub 2015 Aug 19 doi: 10.1016/j.endonu.2015.06.010. PMID: 26298398

Prognosis

Wen J, Trolle C, Viuff MH, Ringgaard S, Laugesen E, Gutmark EJ, Subramaniam DR, Backeljauw P, Gutmark-Little I, Andersen NH, Mortensen KH, Gravholt CH
J Cardiovasc Magn Reson 2018 Dec 13;20(1):80. doi: 10.1186/s12968-018-0497-0. PMID: 30541571Free PMC Article
AbdelMassih AF, Attia M, Ismail MM, Samir M
J Pediatr Endocrinol Metab 2018 Dec 19;31(12):1355-1361. doi: 10.1515/jpem-2018-0207. PMID: 30433872
Mavridi A, Ntali G, Theodora M, Stamatelopoulos K, Michala L
J Pediatr Adolesc Gynecol 2018 Dec;31(6):651-654. Epub 2018 Aug 20 doi: 10.1016/j.jpag.2018.07.005. PMID: 30012427
Shin JY, Kim BH, Kim YK, Kim TH, Kim EH, Lee MJ, Kim JH, Jeon YK, Kim SS, Kim IJ
BMC Endocr Disord 2018 May 10;18(1):27. doi: 10.1186/s12902-018-0253-3. PMID: 29747617Free PMC Article
Ríos Orbañanos I, Vela Desojo A, Martinez-Indart L, Grau Bolado G, Rodriguez Estevez A, Rica Echevarria I
Endocrinol Nutr 2015 Dec;62(10):499-506. Epub 2015 Aug 19 doi: 10.1016/j.endonu.2015.06.010. PMID: 26298398

Clinical prediction guides

Wen J, Trolle C, Viuff MH, Ringgaard S, Laugesen E, Gutmark EJ, Subramaniam DR, Backeljauw P, Gutmark-Little I, Andersen NH, Mortensen KH, Gravholt CH
J Cardiovasc Magn Reson 2018 Dec 13;20(1):80. doi: 10.1186/s12968-018-0497-0. PMID: 30541571Free PMC Article
AbdelMassih AF, Attia M, Ismail MM, Samir M
J Pediatr Endocrinol Metab 2018 Dec 19;31(12):1355-1361. doi: 10.1515/jpem-2018-0207. PMID: 30433872
Corbitt H, Maslen C, Prakash S, Morris SA, Silberbach M
Am J Med Genet A 2018 Feb;176(2):277-282. Epub 2017 Dec 15 doi: 10.1002/ajmg.a.38584. PMID: 29243875Free PMC Article
Ibarra-Gasparini D, Altieri P, Scarano E, Perri A, Morselli-Labate AM, Pagotto U, Mazzanti L, Pasquali R, Gambineri A
Endocrine 2018 Mar;59(3):651-660. Epub 2017 Jun 7 doi: 10.1007/s12020-017-1336-z. PMID: 28593616
Amedro P, Tahhan N, Bertet H, Jeandel C, Guillaumont S, Mura T, Picot MC
J Pediatr Endocrinol Metab 2017 Aug 28;30(8):863-868. doi: 10.1515/jpem-2017-0026. PMID: 28753541

Recent systematic reviews

Mauger C, Lancelot C, Roy A, Coutant R, Cantisano N, Le Gall D
Neuropsychol Rev 2018 Jun;28(2):188-215. Epub 2018 Apr 27 doi: 10.1007/s11065-018-9372-x. PMID: 29704077
Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Söderström-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF; International Turner Syndrome Consensus Group.
Eur J Endocrinol 2017 Sep;177(3):G1-G70. doi: 10.1530/EJE-17-0430. PMID: 28705803
Zaiem F, Alahdab F, Al Nofal A, Murad MH, Javed A
Endocr Pract 2017 Apr 2;23(4):408-421. Epub 2017 Jan 17 doi: 10.4158/EP161622.OR. PMID: 28095041
Cintron D, Rodriguez-Gutierrez R, Serrano V, Latortue-Albino P, Erwin PJ, Murad MH
Endocrine 2017 Feb;55(2):366-375. Epub 2016 Jul 29 doi: 10.1007/s12020-016-1046-y. PMID: 27473099
Castelo-Branco C
Maturitas 2014 Dec;79(4):471-5. Epub 2014 Sep 26 doi: 10.1016/j.maturitas.2014.08.011. PMID: 25438673

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center