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Turner syndrome due to structural X chromosome anomalies

MedGen UID:
1842425
Concept ID:
C5681631
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

Professional guidelines

PubMed

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
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
Ogilvie CM, Donaghue C, Fox SP, Docherty Z, Mann K
J Histochem Cytochem 2005 Mar;53(3):285-8. doi: 10.1369/jhc.4B6409.2005. PMID: 15750003

Recent clinical studies

Etiology

Yoon SH, Kim GY, Choi GT, Do JT
Cells 2023 May 11;12(10) doi: 10.3390/cells12101365. PMID: 37408200Free PMC Article
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
Reindollar RH
Semin Reprod Med 2011 Jul;29(4):342-52. Epub 2011 Oct 3 doi: 10.1055/s-0031-1280919. PMID: 21969268
Leppig KA, Disteche CM
Semin Reprod Med 2001 Jun;19(2):147-57. doi: 10.1055/s-2001-15395. PMID: 11480912
Leichtman DA, Schmickel RD, Gelehrter TD, Judd WJ, Woodbury MC, Meilinger KL
Ann Intern Med 1978 Oct;89(4):473-6. doi: 10.7326/0003-4819-89-4-473. PMID: 697225

Diagnosis

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
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
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
Reindollar RH
Semin Reprod Med 2011 Jul;29(4):342-52. Epub 2011 Oct 3 doi: 10.1055/s-0031-1280919. PMID: 21969268
Ramos ES
Sao Paulo Med J 2007 Mar 1;125(2):112-4. doi: 10.1590/s1516-31802007000200009. PMID: 17625710Free PMC Article

Therapy

Naessén S, Eliasson M, Berntorp K, Kitlinski M, Trimpou P, Amundson E, Thunström S, Ekman B, Wahlberg J, Karlsson A, Isaksson M, Bergström I, Levelind C, Bryman I, Landin-Wilhelmsen K
J Clin Endocrinol Metab 2024 Jan 18;109(2):e602-e612. doi: 10.1210/clinem/dgad566. PMID: 37758506Free PMC Article
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
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
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
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

Naessén S, Eliasson M, Berntorp K, Kitlinski M, Trimpou P, Amundson E, Thunström S, Ekman B, Wahlberg J, Karlsson A, Isaksson M, Bergström I, Levelind C, Bryman I, Landin-Wilhelmsen K
J Clin Endocrinol Metab 2024 Jan 18;109(2):e602-e612. doi: 10.1210/clinem/dgad566. PMID: 37758506Free PMC Article
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
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
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
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

Yoon SH, Kim GY, Choi GT, Do JT
Cells 2023 May 11;12(10) doi: 10.3390/cells12101365. PMID: 37408200Free PMC Article
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
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
Reindollar RH
Semin Reprod Med 2011 Jul;29(4):342-52. Epub 2011 Oct 3 doi: 10.1055/s-0031-1280919. PMID: 21969268
Kelly TE, Franko JB, Rogol A, Golden WL
J Med Genet 1998 Oct;35(10):862-4. doi: 10.1136/jmg.35.10.862. PMID: 9783714Free PMC Article

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