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Turner syndrome due to structural X chromosome anomalies

MedGen UID:
798663
•Concept ID:
CN207336
•
Disease or Syndrome
Monarch Initiative: MONDO:0020472
Orphanet: ORPHA99413

Term Hierarchy

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

Professional guidelines

PubMed

Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening.
Murdock DR, Donovan FX, Chandrasekharappa SC, Banks N, Bondy C, Muenke M, Kruszka P
J Clin Endocrinol Metab 2017 May 1;102(5):1529-1537. doi: 10.1210/jc.2016-3414. PMID: 28324009Free PMC Article
The patient with Turner syndrome: puberty and medical management concerns.
Gonzalez L, Witchel SF
Fertil Steril 2012 Oct;98(4):780-6. Epub 2012 Aug 9 doi: 10.1016/j.fertnstert.2012.07.1104. PMID: 22884020Free PMC Article
The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism.
Hook EB, Warburton D
Hum Genet 1983;64(1):24-7. doi: 10.1007/BF00289473. PMID: 6683706

Recent clinical studies

Etiology

Organ Abnormalities Caused by Turner Syndrome.
Yoon SH, Kim GY, Choi GT, Do JT
Cells 2023 May 11;12(10) doi: 10.3390/cells12101365. PMID: 37408200Free PMC Article
The patient with Turner syndrome: puberty and medical management concerns.
Gonzalez L, Witchel SF
Fertil Steril 2012 Oct;98(4):780-6. Epub 2012 Aug 9 doi: 10.1016/j.fertnstert.2012.07.1104. PMID: 22884020Free PMC Article
Turner syndrome: contemporary thoughts and reproductive issues.
Reindollar RH
Semin Reprod Med 2011 Jul;29(4):342-52. Epub 2011 Oct 3 doi: 10.1055/s-0031-1280919. PMID: 21969268
Cardiovascular abnormalities in patients with Turner syndrome according to karyotype: own experience and literature review.
Poprawski K, Michalski M, Ławniczak M, Łacka K
Pol Arch Med Wewn 2009 Jul-Aug;119(7-8):453-60. PMID: 19776685
Ring X and other structural X chromosome abnormalities: X inactivation and phenotype.
Leppig KA, Disteche CM
Semin Reprod Med 2001 Jun;19(2):147-57. doi: 10.1055/s-2001-15395. PMID: 11480912

Diagnosis

Comparison of Classical and Non-Classical Turner Syndrome at NICH Karachi.
Ibrahim MN, Laghari TM, Hanif MI, Khoso ZA, Riaz M, Raza J
J Coll Physicians Surg Pak 2018 Nov;28(11):840-843. doi: 10.29271/jcpsp.2018.11.840. PMID: 30369375
Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening.
Murdock DR, Donovan FX, Chandrasekharappa SC, Banks N, Bondy C, Muenke M, Kruszka P
J Clin Endocrinol Metab 2017 May 1;102(5):1529-1537. doi: 10.1210/jc.2016-3414. PMID: 28324009Free PMC Article
Turner syndrome: contemporary thoughts and reproductive issues.
Reindollar RH
Semin Reprod Med 2011 Jul;29(4):342-52. Epub 2011 Oct 3 doi: 10.1055/s-0031-1280919. PMID: 21969268
Cardiovascular abnormalities in patients with Turner syndrome according to karyotype: own experience and literature review.
Poprawski K, Michalski M, Ławniczak M, Łacka K
Pol Arch Med Wewn 2009 Jul-Aug;119(7-8):453-60. PMID: 19776685
Turner syndrome: counseling prior to oocyte donation.
Ramos ES
Sao Paulo Med J 2007 Mar 1;125(2):112-4. doi: 10.1590/s1516-31802007000200009. PMID: 17625710

Therapy

The effects of estrogen induction therapy on pubertal presentations in turner syndrome patients.
Lee YC, Huang CY, Lin CH, Cheng BW, Huang SK, Yeh SN, Lee YJ, Ting WH
Taiwan J Obstet Gynecol 2022 Sep;61(5):788-793. doi: 10.1016/j.tjog.2022.05.014. PMID: 36088045
Karyotype-specific ear and hearing problems in young adults with Turner syndrome and the effect of oxandrolone treatment.
Verver EJ, Freriks K, Sas TC, Huygen PL, Pennings RJ, Smeets DF, Hermus AR, Menke LA, Wit JM, Otten BJ, van Alfen-van der Velden JA, de Muinck Keizer-Schrama SM, Topsakal V, Admiraal RJ, Timmers HJ, Kunst HP
Otol Neurotol 2014 Oct;35(9):1577-84. doi: 10.1097/MAO.0000000000000406. PMID: 25133471
Precocious puberty in Turner Syndrome: report of a case and review of the literature.
Improda N, Rezzuto M, Alfano S, Parenti G, Vajro P, Pignata C, Salerno M
Ital J Pediatr 2012 Oct 17;38:54. doi: 10.1186/1824-7288-38-54. PMID: 23075274Free PMC Article
The patient with Turner syndrome: puberty and medical management concerns.
Gonzalez L, Witchel SF
Fertil Steril 2012 Oct;98(4):780-6. Epub 2012 Aug 9 doi: 10.1016/j.fertnstert.2012.07.1104. PMID: 22884020Free PMC Article
Thyroid autoantibodies, Turner's syndrome and growth hormone therapy.
Ivarsson SA, Ericsson UB, Nilsson KO, Gustafsson J, Hagenäs L, Häger A, Moell C, Tuvemo T, Westphal O, Albertsson-Wikland K
Acta Paediatr 1995 Jan;84(1):63-5. doi: 10.1111/j.1651-2227.1995.tb13485.x. PMID: 7734902

Prognosis

The effects of estrogen induction therapy on pubertal presentations in turner syndrome patients.
Lee YC, Huang CY, Lin CH, Cheng BW, Huang SK, Yeh SN, Lee YJ, Ting WH
Taiwan J Obstet Gynecol 2022 Sep;61(5):788-793. doi: 10.1016/j.tjog.2022.05.014. PMID: 36088045
Gonadoblastoma in patients with Ullrich-Turner syndrome.
Zelaya G, López Marti JM, Marino R, Garcia de Dávila MT, Gallego MS
Pediatr Dev Pathol 2015 Mar-Apr;18(2):117-21. Epub 2014 Dec 23 doi: 10.2350/14-08-1539-OA.1. PMID: 25535833
Endocrine autoimmunity in Turner syndrome.
Grossi A, Crinò A, Luciano R, Lombardo A, Cappa M, Fierabracci A
Ital J Pediatr 2013 Dec 20;39:79. doi: 10.1186/1824-7288-39-79. PMID: 24355069Free PMC Article
Ovarian function and in vitro fertilization (IVF) in Turner syndrome.
Hovatta O
Pediatr Endocrinol Rev 2012 May;9 Suppl 2:713-7. PMID: 22946282
Turner syndrome: contemporary thoughts and reproductive issues.
Reindollar RH
Semin Reprod Med 2011 Jul;29(4):342-52. Epub 2011 Oct 3 doi: 10.1055/s-0031-1280919. PMID: 21969268

Clinical prediction guides

Organ Abnormalities Caused by Turner Syndrome.
Yoon SH, Kim GY, Choi GT, Do JT
Cells 2023 May 11;12(10) doi: 10.3390/cells12101365. PMID: 37408200Free PMC Article
The effects of estrogen induction therapy on pubertal presentations in turner syndrome patients.
Lee YC, Huang CY, Lin CH, Cheng BW, Huang SK, Yeh SN, Lee YJ, Ting WH
Taiwan J Obstet Gynecol 2022 Sep;61(5):788-793. doi: 10.1016/j.tjog.2022.05.014. PMID: 36088045
Association between clinical variations and copy number variations in cases with Turner syndrome.
Aksoy E, Cogulu O, Pariltay E, Ozen S, Ata A, Karaca E, Darcan S
J Pediatr Endocrinol Metab 2022 Sep 27;35(9):1161-1168. Epub 2022 Aug 12 doi: 10.1515/jpem-2022-0153. PMID: 35953302
Turner syndrome: contemporary thoughts and reproductive issues.
Reindollar RH
Semin Reprod Med 2011 Jul;29(4):342-52. Epub 2011 Oct 3 doi: 10.1055/s-0031-1280919. PMID: 21969268
Cardiovascular abnormalities in patients with Turner syndrome according to karyotype: own experience and literature review.
Poprawski K, Michalski M, Ławniczak M, Łacka K
Pol Arch Med Wewn 2009 Jul-Aug;119(7-8):453-60. PMID: 19776685

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