U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

XXYY syndrome

MedGen UID:
422434
Concept ID:
C2936741
Disease or Syndrome
Synonyms: 48,XXYY syndrome; Klinefelter syndrome, variants
SNOMED CT: XXYY syndrome (403760006)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0015028
Orphanet: ORPHA10

Definition

A rare sex chromosome number anomaly disorder characterized, genetically, by the presence of an extra X and Y chromosome in males and, clinically, by tall stature, dysfunctional testes associated with infertility and insufficient testosterone production, cognitive, affective and social functioning impairments, global developmental delay, and an increased risk of congenital malformations. [from ORDO]

Term Hierarchy

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

Professional guidelines

PubMed

Gaudino R, De Filippo G, Bozzola E, Gasparri M, Bozzola M, Villani A, Radetti G
Ital J Pediatr 2022 Mar 24;48(1):45. doi: 10.1186/s13052-022-01242-5. PMID: 35331309Free PMC Article
Zitzmann M, Aksglaede L, Corona G, Isidori AM, Juul A, T'Sjoen G, Kliesch S, D'Hauwers K, Toppari J, Słowikowska-Hilczer J, Tüttelmann F, Ferlin A
Andrology 2021 Jan;9(1):145-167. Epub 2020 Oct 6 doi: 10.1111/andr.12909. PMID: 32959490
Stamou MI, Georgopoulos NA
Metabolism 2018 Sep;86:124-134. Epub 2017 Nov 3 doi: 10.1016/j.metabol.2017.10.012. PMID: 29108899Free PMC Article

Recent clinical studies

Etiology

Hanley AP, Blumenthal JD, Lee NR, Baker EH, Clasen LS, Giedd JN
Neuroimage Clin 2015;8:133-9. Epub 2015 Apr 15 doi: 10.1016/j.nicl.2015.04.009. PMID: 26106537Free PMC Article
Tartaglia N, Davis S, Hench A, Nimishakavi S, Beauregard R, Reynolds A, Fenton L, Albrecht L, Ross J, Visootsak J, Hansen R, Hagerman R
Am J Med Genet A 2008 Jun 15;146A(12):1509-22. doi: 10.1002/ajmg.a.32366. PMID: 18481271Free PMC Article
Fryns JP, Kleczkowska A, Kubień E, Van den Berghe H
Genet Couns 1995;6(3):197-206. PMID: 8588846
Borghgraef M, Fryns JP, Van den Berghe H
Genet Couns 1991;2(2):103-8. PMID: 1781953

Diagnosis

Alhalabi MM, Alhalabi M
J Med Case Rep 2020 May 11;14(1):58. doi: 10.1186/s13256-020-02375-z. PMID: 32389125Free PMC Article
Gros M, Aissat A, Perez-Martin S, Abou Taam R, Funalot B, Fanen P, Epaud R, de Becdelievre A
Acta Paediatr 2020 May;109(5):1060-1061. Epub 2019 Dec 4 doi: 10.1111/apa.15090. PMID: 31721284
Lote H, Fuller GN, Bain PG
Pract Neurol 2013 Aug;13(4):249-53. Epub 2013 Mar 13 doi: 10.1136/practneurol-2012-000438. PMID: 23487807
Kemeny S, Pebrel-Richard C, Gouas L, Veronese L, Lemery D, Tchirkov A, Goumy C, Vago P
Morphologie 2013 Jun;97(317):65-7. Epub 2013 Mar 7 doi: 10.1016/j.morpho.2013.01.001. PMID: 23473874
Tartaglia N, Davis S, Hench A, Nimishakavi S, Beauregard R, Reynolds A, Fenton L, Albrecht L, Ross J, Visootsak J, Hansen R, Hagerman R
Am J Med Genet A 2008 Jun 15;146A(12):1509-22. doi: 10.1002/ajmg.a.32366. PMID: 18481271Free PMC Article

Therapy

Izumi S, Tsubahara A
Tokai J Exp Clin Med 2000 Jun;25(2):39-44. PMID: 11127505
Lee JW
Aust N Z J Psychiatry 1996 Aug;30(4):553-6. doi: 10.3109/00048679609065032. PMID: 8887709
Yamane Y, Okamoto S, Fukui H, Matsumura Y, Yoshikawa M, Tsujita S, Tsujii T
Intern Med 1993 Feb;32(2):160-5. doi: 10.2169/internalmedicine.32.160. PMID: 8389624

Prognosis

Borghgraef M, Fryns JP, Van den Berghe H
Genet Couns 1991;2(2):103-8. PMID: 1781953
Grammatico P, Bottoni U, De Sanctis S, Sulli N, Tonanzi T, Onorio AC, Del Porto G
Clin Genet 1990 Jul;38(1):74-8. doi: 10.1111/j.1399-0004.1990.tb03550.x. PMID: 2387088

Clinical prediction guides

Hou A, Liu X, Sun L, Ding X
BMC Ophthalmol 2024 Apr 23;24(1):186. doi: 10.1186/s12886-024-03456-z. PMID: 38654225Free PMC Article
Alhalabi MM, Alhalabi M
J Med Case Rep 2020 May 11;14(1):58. doi: 10.1186/s13256-020-02375-z. PMID: 32389125Free PMC Article
Kemeny S, Pebrel-Richard C, Gouas L, Veronese L, Lemery D, Tchirkov A, Goumy C, Vago P
Morphologie 2013 Jun;97(317):65-7. Epub 2013 Mar 7 doi: 10.1016/j.morpho.2013.01.001. PMID: 23473874
Tartaglia N, Davis S, Hench A, Nimishakavi S, Beauregard R, Reynolds A, Fenton L, Albrecht L, Ross J, Visootsak J, Hansen R, Hagerman R
Am J Med Genet A 2008 Jun 15;146A(12):1509-22. doi: 10.1002/ajmg.a.32366. PMID: 18481271Free PMC Article
Nakajima H, Tajima K, Nakajima T, Iida S, Sumi S, Kono N, Moriwaki K, Nonaka K, Tarui S
Postgrad Med J 1986 Mar;62(725):219-22. doi: 10.1136/pgmj.62.725.219. PMID: 3714610Free PMC Article

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.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...