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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

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
Rapid prenatal diagnosis of aneuploidy using quantitative fluorescence-PCR (QF-PCR).
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

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
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
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
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
Familial Turner syndrome.
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

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
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: 17625710Free PMC Article

Therapy

Lichen sclerosus associated with Turner syndrome treated with photodynamic therapy: A case report.
Wang Y, Liu J
Photodiagnosis Photodyn Ther 2024 Feb;45:103932. Epub 2023 Dec 12 doi: 10.1016/j.pdpdt.2023.103932. PMID: 38097123
Autoimmune Disease in Turner Syndrome in Sweden: An up to 25 Years' Controlled Follow-up Study.
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
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
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

Prognosis

Autoimmune Disease in Turner Syndrome in Sweden: An up to 25 Years' Controlled Follow-up Study.
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
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
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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