U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Monosomy X(MX)

MedGen UID:
116607
Concept ID:
C0242526
Disease or Syndrome
Synonyms: 45, X Syndrome; Chromosome X Monosomy X; Gonadal Dysgenesis (45,X); MX
SNOMED CT: 45XO - Turner's syndrome (710008008); 45, X syndrome (710008008); XO syndrome (710008008); Monosomy X (710008008); Karyotype 45, X (710008008); XO - Turner's syndrome (710008008)
 
Monarch Initiative: MONDO:0020466
Orphanet: ORPHA99226

Professional guidelines

PubMed

Mardy AH, Norton ME
Prenat Diagn 2021 Sep;41(10):1249-1254. Epub 2021 Aug 25 doi: 10.1002/pd.6021. PMID: 34386984
Ishizuka B
Front Endocrinol (Lausanne) 2021;12:626924. Epub 2021 Feb 25 doi: 10.3389/fendo.2021.626924. PMID: 33716979Free PMC Article
Redel JM, Backeljauw PF
Clin Perinatol 2018 Mar;45(1):119-128. doi: 10.1016/j.clp.2017.11.003. PMID: 29406001

Curated

American College of Medical Genetics and Genomics Noninvasive Prenatal Screening via Cell-Free DNA ACT Sheet, 45,X: Positive Cell Free DNA Screen, 2021

Recent clinical studies

Etiology

Suntharalingham JP, Ishida M, Cameron-Pimblett A, McGlacken-Byrne SM, Buonocore F, Del Valle I, Madhan GK, Brooks T, Conway GS, Achermann JC
Front Endocrinol (Lausanne) 2023;14:1227164. Epub 2023 Sep 20 doi: 10.3389/fendo.2023.1227164. PMID: 37800145Free PMC Article
Mardy AH, Norton ME
Prenat Diagn 2021 Sep;41(10):1249-1254. Epub 2021 Aug 25 doi: 10.1002/pd.6021. PMID: 34386984
Mikwar M, MacFarlane AJ, Marchetti F
Mutat Res Rev Mutat Res 2020 Jul-Sep;785:108320. Epub 2020 Jul 4 doi: 10.1016/j.mrrev.2020.108320. PMID: 32800274
Qin Y, Jiao X, Simpson JL, Chen ZJ
Hum Reprod Update 2015 Nov-Dec;21(6):787-808. Epub 2015 Aug 4 doi: 10.1093/humupd/dmv036. PMID: 26243799Free PMC Article
Kesler SR
Child Adolesc Psychiatr Clin N Am 2007 Jul;16(3):709-22. doi: 10.1016/j.chc.2007.02.004. PMID: 17562588Free PMC Article

Diagnosis

Khan N, Farooqui A, Ishrat R
Orphanet J Rare Dis 2024 Aug 28;19(1):314. doi: 10.1186/s13023-024-03337-0. PMID: 39198906Free PMC Article
Mardy AH, Norton ME
Prenat Diagn 2021 Sep;41(10):1249-1254. Epub 2021 Aug 25 doi: 10.1002/pd.6021. PMID: 34386984
Ishizuka B
Front Endocrinol (Lausanne) 2021;12:626924. Epub 2021 Feb 25 doi: 10.3389/fendo.2021.626924. PMID: 33716979Free PMC Article
Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH
Ultrasound Obstet Gynecol 2017 Sep;50(3):302-314. Epub 2017 Jul 27 doi: 10.1002/uog.17484. PMID: 28397325
Kesler SR
Child Adolesc Psychiatr Clin N Am 2007 Jul;16(3):709-22. doi: 10.1016/j.chc.2007.02.004. PMID: 17562588Free PMC Article

Therapy

Bussolaro S, Raymond YC, Acreman ML, Guido M, Da Silva Costa F, Rolnik DL, Fantasia I
Am J Obstet Gynecol MFM 2023 Mar;5(3):100844. Epub 2022 Dec 24 doi: 10.1016/j.ajogmf.2022.100844. PMID: 36572107
Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH
Ultrasound Obstet Gynecol 2017 Sep;50(3):302-314. Epub 2017 Jul 27 doi: 10.1002/uog.17484. PMID: 28397325
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
Bondy CA
Congenit Heart Dis 2008 Jan-Feb;3(1):2-15. doi: 10.1111/j.1747-0803.2007.00163.x. PMID: 18373744
Kesler SR
Child Adolesc Psychiatr Clin N Am 2007 Jul;16(3):709-22. doi: 10.1016/j.chc.2007.02.004. PMID: 17562588Free PMC Article

Prognosis

Mardy AH, Norton ME
Prenat Diagn 2021 Sep;41(10):1249-1254. Epub 2021 Aug 25 doi: 10.1002/pd.6021. PMID: 34386984
Ishizuka B
Front Endocrinol (Lausanne) 2021;12:626924. Epub 2021 Feb 25 doi: 10.3389/fendo.2021.626924. PMID: 33716979Free PMC Article
Rudd MK, Schleede JB, Williams SR, Lee K, Laffin J, Pasion R, Papenhausen PR
Prenat Diagn 2018 Nov;38(12):920-923. Epub 2018 Sep 24 doi: 10.1002/pd.5349. PMID: 30156302
Qin Y, Jiao X, Simpson JL, Chen ZJ
Hum Reprod Update 2015 Nov-Dec;21(6):787-808. Epub 2015 Aug 4 doi: 10.1093/humupd/dmv036. PMID: 26243799Free PMC Article
Witters I, Fryns JR
Genet Couns 2007;18(1):1-7. PMID: 17515296

Clinical prediction guides

Mardy AH, Norton ME
Prenat Diagn 2021 Sep;41(10):1249-1254. Epub 2021 Aug 25 doi: 10.1002/pd.6021. PMID: 34386984
Rudd MK, Schleede JB, Williams SR, Lee K, Laffin J, Pasion R, Papenhausen PR
Prenat Diagn 2018 Nov;38(12):920-923. Epub 2018 Sep 24 doi: 10.1002/pd.5349. PMID: 30156302
Qin Y, Jiao X, Simpson JL, Chen ZJ
Hum Reprod Update 2015 Nov-Dec;21(6):787-808. Epub 2015 Aug 4 doi: 10.1093/humupd/dmv036. PMID: 26243799Free PMC Article
Witters I, Fryns JR
Genet Couns 2007;18(1):1-7. PMID: 17515296
Lowenstein EJ, Kim KH, Glick SA
J Am Acad Dermatol 2004 May;50(5):767-76. doi: 10.1016/j.jaad.2003.07.031. PMID: 15097963

Recent systematic reviews

Becking EC, Schuit E, van Baar de Knegt SME, Sistermans EA, Henneman L, Bekker MN, Scheffer PG
Prenat Diagn 2023 Jun;43(7):838-853. Epub 2023 May 17 doi: 10.1002/pd.6366. PMID: 37143173
Bussolaro S, Raymond YC, Acreman ML, Guido M, Da Silva Costa F, Rolnik DL, Fantasia I
Am J Obstet Gynecol MFM 2023 Mar;5(3):100844. Epub 2022 Dec 24 doi: 10.1016/j.ajogmf.2022.100844. PMID: 36572107
Levy AT, Berghella V, Al-Kouatly HB
Am J Med Genet A 2021 Jan;185(1):26-32. Epub 2020 Oct 7 doi: 10.1002/ajmg.a.61902. PMID: 33026168
Morris LA, Tishelman AC, Kremen J, Ross RA
Arch Sex Behav 2020 Feb;49(2):769-786. Epub 2019 Oct 9 doi: 10.1007/s10508-019-01549-1. PMID: 31598804Free PMC Article
Kagan KO, Hoopmann M, Singer S, Schaeferhoff K, Dufke A, Mau-Holzmann UA
Arch Gynecol Obstet 2016 Aug;294(2):219-24. Epub 2016 Mar 29 doi: 10.1007/s00404-016-4077-y. PMID: 27022934

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • ACMG ACT, 2021
      American College of Medical Genetics and Genomics Noninvasive Prenatal Screening via Cell-Free DNA ACT Sheet, 45,X: Positive Cell Free DNA Screen, 2021

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...