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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.
See: This record
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Unknown inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
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

Current clinical management of constitutional delay of growth and puberty.
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
European academy of andrology guidelines on Klinefelter Syndrome Endorsing Organization: European Society of Endocrinology.
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
Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.
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

Brain and behavior in 48, XXYY syndrome.
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
A new look at XXYY syndrome: medical and psychological features.
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
XYY syndrome and other Y chromosome polysomies. Mental status and psychosocial functioning.
Fryns JP, Kleczkowska A, Kubień E, Van den Berghe H
Genet Couns 1995;6(3):197-206. PMID: 8588846
The 48,XXYY syndrome. Follow-up data on clinical characteristics and psychological findings in 4 patients.
Borghgraef M, Fryns JP, Van den Berghe H
Genet Couns 1991;2(2):103-8. PMID: 1781953

Diagnosis

48,XXYY syndrome presenting with long-term infertility and newly observed neck deformities: a case report.
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
Retinal dysfunction and high myopia in association with 48,XXYY syndrome.
Karampelas M, Gardner J, Holder G, Hardcastle A, Webster A
Doc Ophthalmol 2013 Dec;127(3):245-7. Epub 2013 Sep 19 doi: 10.1007/s10633-013-9406-x. PMID: 24048723
Prenatal ultrasound diagnosis of a 48,XXYY syndrome.
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
A new look at XXYY syndrome: medical and psychological features.
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
XYY syndrome and other Y chromosome polysomies. Mental status and psychosocial functioning.
Fryns JP, Kleczkowska A, Kubień E, Van den Berghe H
Genet Couns 1995;6(3):197-206. PMID: 8588846

Therapy

Improvement of peripheral neuropathy by testosterone in a patient with 48,XXYY syndrome.
Izumi S, Tsubahara A
Tokai J Exp Clin Med 2000 Jun;25(2):39-44. PMID: 11127505
An XXYY male with schizophrenia.
Lee JW
Aust N Z J Psychiatry 1996 Aug;30(4):553-6. doi: 10.3109/00048679609065032. PMID: 8887709
48,XXYY syndrome associated with acromegaloidism.
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

The 48,XXYY syndrome. Follow-up data on clinical characteristics and psychological findings in 4 patients.
Borghgraef M, Fryns JP, Van den Berghe H
Genet Couns 1991;2(2):103-8. PMID: 1781953
A male patient with 48,XXYY syndrome: importance of distinction from Klinefelter's syndrome.
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

48,XXYY syndrome presenting with long-term infertility and newly observed neck deformities: a case report.
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
Prenatal ultrasound diagnosis of a 48,XXYY syndrome.
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
A new look at XXYY syndrome: medical and psychological features.
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
Renal hypouricaemia in a patient with 48,XXYY syndrome.
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

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