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48,XXXY syndrome

MedGen UID:
452344
•Concept ID:
C0265498
•
Disease or Syndrome
Synonyms: 48, XXXY Syndrome; 48, XXXY syndrome; XXXY Syndrome; XXXY syndrome
SNOMED CT: XXXY syndrome (78317008)
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:0019928
Orphanet: ORPHA96263

Definition

The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV48,XXXY syndrome
Follow this link to review classifications for 48,XXXY syndrome in Orphanet.

Professional guidelines

PubMed

Clinical, Hormonal, and Genetic Evaluation of Idiopathic Nonobstructive Azoospermia and Klinefelter Syndrome Patients.
Kim SY, Lee BY, Oh AR, Park SY, Lee HS, Seo JT
Cytogenet Genome Res 2017;153(4):190-197. Epub 2018 Feb 22 doi: 10.1159/000487039. PMID: 29466784
A simple screening method for detection of Klinefelter syndrome and other X-chromosome aneuploidies based on copy number of the androgen receptor gene.
Ottesen AM, Garn ID, Aksglaede L, Juul A, Rajpert-De Meyts E
Mol Hum Reprod 2007 Oct;13(10):745-50. Epub 2007 Aug 24 doi: 10.1093/molehr/gam053. PMID: 17720778

Recent clinical studies

Etiology

Generation of two iPSC lines (KAUSTi001-A, KAUSTi002-A) from a rare high-grade Klinefelter Syndrome patient (49-XXXXY) carrying a balanced translocation t(4,11) (q35,q23).
Alowaysi M, Fiacco E, Astro V, Adamo A
Stem Cell Res 2020 Dec;49:102098. Epub 2020 Nov 24 doi: 10.1016/j.scr.2020.102098. PMID: 33254093
Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature.
Demily C, Poisson A, Peyroux E, Gatellier V, Nicolas A, Rigard C, Schluth-Bolard C, Sanlaville D, Rossi M
BMC Med Genet 2017 Jan 31;18(1):9. doi: 10.1186/s12881-017-0371-1. PMID: 28137251Free PMC Article
Chromosomal variants in klinefelter syndrome.
Frühmesser A, Kotzot D
Sex Dev 2011;5(3):109-23. Epub 2011 Apr 29 doi: 10.1159/000327324. PMID: 21540567
Klinefelter syndrome and other sex chromosomal aneuploidies.
Visootsak J, Graham JM Jr
Orphanet J Rare Dis 2006 Oct 24;1:42. doi: 10.1186/1750-1172-1-42. PMID: 17062147Free PMC Article
Mental development in polysomy X Klinefelter syndrome (47,XXY; 48,XXXY): effects of incomplete X inactivation.
Samango-Sprouse C
Semin Reprod Med 2001 Jun;19(2):193-202. doi: 10.1055/s-2001-15400. PMID: 11480917

Diagnosis

48, XXXY/49, XXXXY mosaic: new neuroradiological features in an ultra-rare syndrome.
Milani D, Bonarrigo F, Avignone S, Triulzi F, Esposito S
Ital J Pediatr 2015 Jul 14;41:50. doi: 10.1186/s13052-015-0156-0. PMID: 26168786Free PMC Article
Chromosomal variants in klinefelter syndrome.
Frühmesser A, Kotzot D
Sex Dev 2011;5(3):109-23. Epub 2011 Apr 29 doi: 10.1159/000327324. PMID: 21540567
48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome.
Tartaglia N, Ayari N, Howell S, D'Epagnier C, Zeitler P
Acta Paediatr 2011 Jun;100(6):851-60. Epub 2011 Apr 8 doi: 10.1111/j.1651-2227.2011.02235.x. PMID: 21342258Free PMC Article
Clinical and behavioural profile of a rare variant of Klinefelter syndrome-48, XXXY.
Venkateshwari A, Srilekha A, Begum A, Sujatha M, Rani PU, Sunitha T, Nallari P, Jyothy A
Indian J Pediatr 2010 Apr;77(4):447-9. Epub 2010 Jan 20 doi: 10.1007/s12098-009-0288-6. PMID: 20091383
Mental development in polysomy X Klinefelter syndrome (47,XXY; 48,XXXY): effects of incomplete X inactivation.
Samango-Sprouse C
Semin Reprod Med 2001 Jun;19(2):193-202. doi: 10.1055/s-2001-15400. PMID: 11480917

Therapy

Klinefelter Syndrome (49, XXXXY/48, XXXY) associated with narrow angle glaucoma: A case report.
Ulloa-Padilla EP, Dávila PJ, Izquierdo NJ
Bol Asoc Med P R 2016;108(1):85-90. PMID: 29193925
Association between venous leg ulcers and sex chromosome anomalies in men.
Gattringer C, Scheurecker C, Höpfl R, Müller H
Acta Derm Venereol 2010 Nov;90(6):612-5. doi: 10.2340/00015555-0949. PMID: 21057745
A case of Klinefelter's syndrome with 48,XXXY and diabetes mellitus.
Esmann V, Nielsen J, Petersen GB
Acta Med Scand 1969 Jul-Aug;186(1-2):27-33. doi: 10.1111/j.0954-6820.1969.tb01434.x. PMID: 5317784

Prognosis

Mental development in polysomy X Klinefelter syndrome (47,XXY; 48,XXXY): effects of incomplete X inactivation.
Samango-Sprouse C
Semin Reprod Med 2001 Jun;19(2):193-202. doi: 10.1055/s-2001-15400. PMID: 11480917
Cytogenetic studies in a selected group of mentally retarded children.
Moghe M, Patel ZM, Peter JJ, Ambani LM
Hum Genet 1981;58(2):184-7. doi: 10.1007/BF00278708. PMID: 6456981

Clinical prediction guides

Generation of iPSC Cell Lines from Patients with Sex Chromosome Aneuploidies.
Astro V, Adamo A
Methods Mol Biol 2024;2770:185-200. doi: 10.1007/978-1-0716-3698-5_14. PMID: 38351455
Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature.
Demily C, Poisson A, Peyroux E, Gatellier V, Nicolas A, Rigard C, Schluth-Bolard C, Sanlaville D, Rossi M
BMC Med Genet 2017 Jan 31;18(1):9. doi: 10.1186/s12881-017-0371-1. PMID: 28137251Free PMC Article
48, XXXY/49, XXXXY mosaic: new neuroradiological features in an ultra-rare syndrome.
Milani D, Bonarrigo F, Avignone S, Triulzi F, Esposito S
Ital J Pediatr 2015 Jul 14;41:50. doi: 10.1186/s13052-015-0156-0. PMID: 26168786Free PMC Article
Chromosomal variants in klinefelter syndrome.
Frühmesser A, Kotzot D
Sex Dev 2011;5(3):109-23. Epub 2011 Apr 29 doi: 10.1159/000327324. PMID: 21540567
Klinefelter's syndrome, mosaic 46,XX/46,XY/47,XXY/48,XXXY/48,XXYY: a case report.
Al-Awadi SA, Teebi AS, Krishna Murthy DS, Othman G, Sundareshan TS
Ann Genet 1986;29(2):119-21. PMID: 3490207

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