MCID: 47X003
MIFTS: 38

47, Xxy

Categories: Rare diseases, Reproductive diseases

Aliases & Classifications for 47, Xxy

MalaCards integrated aliases for 47, Xxy:

Name: 47, Xxy 53
Xxy Trisomy 53 73
Klinefelter Syndrome 73
47 Xxy 53

Classifications:



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Summaries for 47, Xxy

NIH Rare Diseases : 53 People with 47, XXY have an extra chromosome. The X and Y chromosomes are the sex chromosomes. Females usually have two X chromosomes (46, XX) and males usually have one X and one Y chromosome (46, XY). People with 47, XXY have two X chromosomes and one Y chromosome. Some people with 47, XXY may have no noticeable signs or symptoms (features) or only mild features. Others may have more moderate to severe features. Common symptoms of 47, XXY include low testosterone, infertility, speech and language problems, and learning difficulties. Although the majority of people with 47, XXY identify as males (gender identity), some people with 47, XXY identify as female, intersex, transgender, or prefer not to identify with a gender at all. A diagnosis of 47, XXY may be suspected by signs and symptoms and confirmed by genetic testing. Diagnosis may also be made during prenatal genetic testing or infertility testing. People with 47, XXY are at an increased risk of developing diabetes, metabolic syndrome, osteoporosis, cardiovascular diseases, autoimmmune disorders, and certain mental health problems. Regular screening for these health problems is suggested. Although most males with 47, XXY are infertile, many produce sperm and may be able to conceive with assisted reproduction. A discussion about testosterone therapy with a pediatric endocrinologist is advised, even if the person with 47, XXY does not identify as male. Other features of 47, XXY may be managed by early intervention, speech therapy, occupational therapy, physical therapy, extra help in school, counseling, and social skills training.  Less commonly, some woman are found to be 47, XXY. In most of these cases, a change or mutation has been found in a gene that helps control male sexual development. Most often, women with 47, XXY are infertile, but in a few cases they have had children naturally. 

MalaCards based summary : 47, Xxy, also known as xxy trisomy, is related to numeric sex chromosome variations and hypogonadotropic hypogonadism. An important gene associated with 47, Xxy is AR (Androgen Receptor), and among its related pathways/superpathways is Nongenotropic Androgen signaling. The drugs Testosterone and Testosterone enanthate have been mentioned in the context of this disorder. Affiliated tissues include testes, breast and bone, and related phenotypes are Decreased substrate adherent cell growth and Increased senescence-associated beta-galactosidase protein expression after pRB stimulation

Wikipedia : 76 Klinefelter syndrome (KS) also known as 47,XXY or XXY, is the set of symptoms that result from two or... more...

Related Diseases for 47, Xxy

Diseases related to 47, Xxy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
# Related Disease Score Top Affiliating Genes
1 numeric sex chromosome variations 11.3
2 hypogonadotropic hypogonadism 10.5
3 aicardi syndrome 10.3
4 47,xyy 10.3
5 achondroplasia 10.0
6 prader-willi syndrome 10.0
7 schizophrenia 10.0
8 lipoid congenital adrenal hyperplasia 10.0
9 autism 10.0
10 anosmia 10.0
11 holoprosencephaly 10.0
12 lissencephaly 10.0
13 gonadal dysgenesis 10.0
14 personality disorder 10.0
15 hypogonadism 10.0
16 seminoma 10.0
17 learning disability 10.0
18 myotonic dystrophy 10.0
19 pseudovaginal perineoscrotal hypospadias 10.0 AR IGFBP3
20 androgen insensitivity syndrome 10.0 AR SHBG
21 reproductive system disease 9.9 AR SHBG
22 postmenopausal atrophic vaginitis 9.9 AR SHBG
23 androgen insensitivity, partial 9.9 AR SHBG
24 alopecia 9.9 AR SHBG
25 alopecia, androgenetic, 1 9.9 AR SHBG
26 androgenic alopecia 9.9 AR SHBG
27 sebaceous gland disease 9.9 AR SHBG
28 prostatic hyperplasia, benign 9.9 AR SHBG
29 sex differentiation disease 9.9 AR SHBG
30 gynecomastia 9.9 AR SHBG
31 endocrine gland cancer 9.9 AR IGFBP3
32 gonadal disease 9.9 AR SHBG
33 testicular cancer 9.9 AR SHBG
34 cryptorchidism, unilateral or bilateral 9.9 AR SHBG
35 marasmus 9.9 IGFBP3 SHBG
36 turner syndrome 9.8 IGFBP3 SHBG
37 premature ovarian failure 1 9.8 IGFBP3 SHBG
38 insulin-like growth factor i 9.8 IGFBP3 SHBG
39 hyperinsulinism 9.8 IGFBP3 SHBG
40 focal epilepsy 9.8 CDKL5 SHBG
41 complete androgen insensitivity syndrome 9.7 AR IGFBP3 SHBG
42 male reproductive organ cancer 9.7 AR IGFBP3 SHBG
43 male reproductive system disease 9.7 AR IGFBP3 SHBG
44 osteoporosis 9.7 AR IGFBP3 SHBG
45 breast disease 9.6 IGFBP3 SHBG

Graphical network of the top 20 diseases related to 47, Xxy:



Diseases related to 47, Xxy

Symptoms & Phenotypes for 47, Xxy

GenomeRNAi Phenotypes related to 47, Xxy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-3 8.96 CDKL5 PRKX
2 Increased senescence-associated beta-galactosidase protein expression after pRB stimulation GR00230-A-2 8.62 CDKL5 PRKX

Drugs & Therapeutics for 47, Xxy

Drugs for 47, Xxy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Testosterone Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable 58-22-0 6013
2
Testosterone enanthate Approved Phase 4,Phase 2,Phase 3,Not Applicable 315-37-7 9416
3
Methyltestosterone Approved Phase 4,Phase 2,Phase 3,Not Applicable 58-18-4 6010
4
Testosterone undecanoate Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable 5949-44-0
5 Antineoplastic Agents, Hormonal Phase 4,Phase 2,Phase 3,Not Applicable
6 Testosterone 17 beta-cypionate Phase 4,Phase 2,Phase 3,Not Applicable
7 Androgens Phase 4,Phase 2,Phase 3,Not Applicable
8 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
9 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
10 Anabolic Agents Phase 4,Phase 2,Phase 3,Not Applicable
11 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
12 Pharmaceutical Solutions Phase 4
13
Castor oil Approved, Investigational, Nutraceutical, Vet_approved Phase 2, Phase 3 8001-79-4
14 Castor Phase 2, Phase 3
15 Cathartics Phase 2, Phase 3
16 Laxatives Phase 2, Phase 3
17 Gastrointestinal Agents Phase 2, Phase 3
18
Oxandrolone Approved, Investigational Phase 2 53-39-4 5878
19
Isotretinoin Approved Phase 2 4759-48-2 5538 5282379
20
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538 444795
21
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
22
Calcitriol Approved, Nutraceutical Phase 2 32222-06-3 5280453 134070
23 Dihydroxycholecalciferols Phase 2
24 Trace Elements Phase 2
25 Keratolytic Agents Phase 2
26 Calcium, Dietary Phase 2
27 Vasoconstrictor Agents Phase 2
28 Micronutrients Phase 2
29 Vitamins Phase 2
30 Calciferol Phase 2
31 Bone Density Conservation Agents Phase 2
32 Dermatologic Agents Phase 2
33
Racepinephrine Approved 329-65-7 838
34
Epinephrine Approved, Vet_approved 51-43-4 5816
35 Chorionic Gonadotropin Not Applicable
36 Anesthetics Not Applicable
37 Insulin, Globin Zinc
38 insulin
39 Hemostatics
40 interferons Not Applicable
41 Epinephryl borate

Interventional clinical trials:

(show all 34)
# Name Status NCT ID Phase Drugs
1 TESTO: Testosterone Effects on Short-Term Outcomes in Infants With XXY Recruiting NCT03325647 Phase 4 Testosterone Cypionate 200 Milligram/Milliliter Injectable Solution;Placebo injectable saline
2 Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment Active, not recruiting NCT02408445 Phase 4 testosterone cypionate 200mg/ml
3 Androgen for Leydig Cell Proliferation Completed NCT01206270 Phase 2, Phase 3 Testosterone undecanoate;Castor Oil
4 Androgen Effect on Klinefelter Syndrome Motor Outcome Active, not recruiting NCT00348946 Phase 2 androgen oxandrolone
5 RA-2 13-cis Retinoic Acid (Isotretinoin) Active, not recruiting NCT02061384 Phase 2 13-cis retinoic acid;Calcitriol
6 Elucidating Kisspeptin Physiology by Blocking Kisspeptin Signaling Recruiting NCT01438073 Phase 1 kisspeptin 112-121;GnRH
7 Non-Invasive Determination of Fetal Chromosome Abnormalities Unknown status NCT00891852
8 Adaptation Among Adolescents and Adults With Klinefelter Syndrome Completed NCT00896272
9 Klinefelter Fertility Preservation Completed NCT01817296 Not Applicable
10 Study of Psychological and Motor Effects of Testosterone in Adolescents With XXY/Klinefelter Syndrome Completed NCT01585831 Not Applicable Testosterone gel 1%;Placebo gel
11 Neuropsychologic, Neuroradiologic, Endocrinologic, and Genetic Aspects of Klinefelter Syndrome Completed NCT00999310
12 Epigenetics and Metabolic Disorders in Men With the Klinefelter Syndrome Completed NCT01703676
13 Human Chorionic Gonadotropin Stimulation Effects on Steroidogenesis in Men With Klinefelter Syndrome Completed NCT02788136 Not Applicable human chorionic gonadotropin
14 Life Quality and Health in Patients With Klinefelter Syndrome Completed NCT01690013
15 Skeletal Health of Klinefelter Patients Completed NCT03704987 Not Applicable
16 Subcapsular Orchiectomy in Men With Klinefelter Syndrome Completed NCT01750632 Not Applicable
17 Body Composition, Bone Mineral Density, Insulin Sensitivity and Echocardiographic Measurements in Klinefelter Syndrome Completed NCT00523835
18 Sperm Production in Kleinfelter Syndrome Patients After Mesenchymal Stem Cell Injection Completed NCT02414295 Not Applicable Mesenchymal stem cell injection
19 X-chromosome Inactivation, Epigenetics and the Transcriptome Completed NCT01678261
20 Development and Decline of Brain and Cognition Through the Life Span Completed NCT00880451
21 Expanded Noninvasive Genomic Medical Assessment: The Enigma Study Completed NCT02787486
22 Thrombosis and Neurocognition in Klinefelter Syndrome Recruiting NCT02526628
23 The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy Recruiting NCT03396562
24 The Potential of Sperm Retrieved by Micro-TESE to Fertilize Vitrified/Warmed Oocytes Recruiting NCT03809026
25 The Clinical Study of Sex Chromosome Variants Recruiting NCT01661010
26 Impact of Gender and Pubertal Status on Human Plasmacytoid Dendritic Cells. PLASMACYTOKID Recruiting NCT02956980 Not Applicable
27 Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Volunteers Recruiting NCT00001246
28 Whole Blood Specimen Collection From Pregnant Subjects Recruiting NCT02430584
29 Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA Recruiting NCT02109770
30 Fertility Preservation in Cases of Klinefelter Syndrome. Active, not recruiting NCT01918280 Not Applicable
31 Cardiometabolic Profiles of Boys With Klinefelter Syndrome Active, not recruiting NCT02723305
32 Testicular Tissue Cryopreservation for Fertility Preservation in Male Patients Facing Infertility-causing Diseases or Treatment Regimens Not yet recruiting NCT02687880
33 Fertility Assessment in Patients With Klinefelter Syndrome Terminated NCT02461303
34 Adaptive Behavior Assessment of Men With 49, XXXXY, Klinefelter Syndrome Withdrawn NCT00347464

Search NIH Clinical Center for 47, Xxy

Genetic Tests for 47, Xxy

Anatomical Context for 47, Xxy

MalaCards organs/tissues related to 47, Xxy:

41
Testes, Breast, Bone, Brain, Testis, Skin, Prostate

Publications for 47, Xxy

Articles related to 47, Xxy:

(show top 50) (show all 227)
# Title Authors Year
1
International investigation of neurocognitive and behavioral phenotype in 47,XXY (Klinefelter syndrome): Predicting individual differences. ( 29423966 )
2018
2
The nature of social cognitive deficits in children and adults with Klinefelter syndrome (47,XXY). ( 29406610 )
2018
3
The effect of early life stress on the cognitive phenotype of children with an extra X chromosome (47,XXY/47,XXX). ( 27892807 )
2018
4
Salivary testosterone in relation to social cognition and social anxiety in children and adolescents with 47,XXY (Klinefelter syndrome). ( 30036387 )
2018
5
Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47,XXY Karyotype. ( 28456808 )
2017
6
The benefits and limitations of cell-free DNA screening for 47, XXY (Klinefelter syndrome). ( 28346690 )
2017
7
Corrigendum to "Klinefelter's syndrome (47,XXY) is in excess among men with SjAPgren's syndrome" [Clin. Immunol. 168 (2016) 25-29]. ( 29195081 )
2017
8
Fluid intelligence, traits of personality and personality disorders in a cohort of adult KS patients with the classic 47, XXY karyotype. ( 28401527 )
2017
9
Klinefelter's syndrome (47,XXY) is in excess among men with SjAPgren's syndrome. ( 27109640 )
2016
10
A boy with conduct disorder (CD), attention deficit hyperactivity disorder (ADHD), borderline intellectual disability, and 47,XXY syndrome in combination with a 7q11.23 duplication, 11p15.5 deletion, and 20q13.33 deletion. ( 27651829 )
2016
11
[COMPREHENSIVE DIAGNOSTICS IN PATIENTS WITH GENOTYPE 47,XXY KLINEFELTER SYNDROME]. ( 27522732 )
2016
12
Preliminary results of a prospective study of testicular sperm extraction in young versus adult patients with nonmosaic 47,XXY Klinefelter syndrome. ( 25423570 )
2015
13
Screening of endocrine organ-specific humoral autoimmunity in 47,XXY Klinefelter's syndrome reveals a significant increase in diabetes-specific immunoreactivity in comparison with healthy control men. ( 25935328 )
2015
14
Social Attention in 47,XXY (Klinefelter Syndrome): Visual Scanning of Facial Expressions Using Eyetracking. ( 26018944 )
2015
15
Rapid and simultaneous screening of 47,XXY and AZF microdeletions by quadruplex real-time polymerase chain reaction. ( 26051460 )
2015
16
Executive dysfunction and the relation with behavioral problems in children with 47,XXY and 47,XXX. ( 25684214 )
2015
17
Positive effects of early androgen therapy on the behavioral phenotype of boys with 47,XXY. ( 25939399 )
2015
18
A rare case of lateral ovotesticular disorder with Klinefelter syndrome mosaicism 46, XX/47, XXY: An unusual presentation. ( 26692679 )
2015
19
Acute myeloid leukemia in a patient with constitutional 47,XXY karyotype. ( 25973391 )
2015
20
De novo structure variations of the Y chromosome in a 47,XXY female with ovarian failure: a case report. ( 25227289 )
2014
21
Aicardi syndrome in a 47 XXY male - a variable developmental phenotype? ( 24657013 )
2014
22
Donor-derived 47, XXY in an unrelated cord blood transplant recipient. ( 24555174 )
2014
23
Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13. ( 25379297 )
2014
24
Social attention, affective arousal and empathy in men with Klinefelter syndrome (47,XXY): evidence from eyetracking and skin conductance. ( 24416272 )
2014
25
Epigenomic and transcriptomic signatures of a Klinefelter syndrome (47,XXY) karyotype in the brain. ( 24476718 )
2014
26
Expanding the phenotypic profile of boys with 47, XXY: the impact of familial learning disabilities. ( 24715716 )
2014
27
Prepubertal unilateral gynecomastia and the presence of 47,XXY mosaicism in breast epithelial cells: a case report. ( 23414896 )
2013
28
Timing of diagnosis of 47,XXY and 48,XXYY: a survey of parent experiences. ( 23322622 )
2013
29
Positive effects of short course androgen therapy on the neurodevelopmental outcome in boys with 47,XXY syndrome at 36 and 72 months of age. ( 23345253 )
2013
30
47,XXY Klinefelter syndrome: clinical characteristics and age-specific recommendations for medical management. ( 23345262 )
2013
31
Prenatal diagnosis and 47,XXY. ( 23359597 )
2013
32
Ovotesticular disorder of sexual development and a rare 46,XX/47,XXY karyotype. ( 23612643 )
2013
33
Maternal origin of 47,XXY and confined placental mosaicism 47,XXY/48,XXY,+13 in an infant conceived through IVF. ( 23624985 )
2013
34
Behavioral and social phenotypes in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome. ( 22412026 )
2012
35
Achondroplasia with 47, XXY karyotype: a case report of the neonatal diagnosis of an extremely unusual association. ( 22747519 )
2012
36
Neural systems for social cognition in Klinefelter syndrome (47,XXY): evidence from fMRI. ( 21737434 )
2012
37
Presence of spermatogonia in 47,XXY men with no spermatozoa recovered after testicular sperm extraction. ( 22137495 )
2012
38
Failure of a combined clinical- and hormonal-based strategy to detect early spermatogenesis and retrieve spermatogonial stem cells in 47,XXY boys by single testicular biopsy. ( 22313866 )
2012
39
Vulnerability for autism traits in boys and men with an extra X chromosome (47,XXY): the mediating role of cognitive flexibility. ( 22884425 )
2012
40
Rare association of sensorimotor polyneuropathy and Klinefelter syndrome (47,XXY): case report. ( 21757941 )
2011
41
Klinefelter's syndrome (47,XXY) among men with systemic lupus erythematosus. ( 21375582 )
2011
42
A case of Klinefelter syndrome, mosaicism (46,XY/47,XXY), associated with anorexia nervosa. ( 21051929 )
2011
43
Morbidity and mortality in Klinefelter syndrome (47,XXY). ( 21414026 )
2011
44
Deficits in inhibitory executive functions in Klinefelter (47, XXY) syndrome. ( 21429590 )
2011
45
Thinking outside the square: considering gender in Klinefelter syndrome and 47, XXY. ( 21453406 )
2011
46
A 47, XXY patient and Xq21.31 duplication with features of Prader-Willi syndrome: results of array-based comparative genomic hybridization. ( 20960156 )
2010
47
A 47,XXY female with gender identity disorder. ( 20464469 )
2010
48
Considerations for androgen therapy in children and adolescents with Klinefelter syndrome (47, XXY). ( 21217606 )
2010
49
The spectrum of the behavioral phenotype in boys and adolescents 47,XXY (Klinefelter syndrome). ( 21217607 )
2010
50
Low semen volume in 47 adolescents and adults with 47,XXY Klinefelter or 46,XX male syndrome. ( 19515177 )
2009

Variations for 47, Xxy

Expression for 47, Xxy

Search GEO for disease gene expression data for 47, Xxy.

Pathways for 47, Xxy

Pathways related to 47, Xxy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.88 AR SHBG

GO Terms for 47, Xxy

Biological processes related to 47, Xxy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein autophosphorylation GO:0046777 9.26 CDKL5 PRKX
2 positive regulation of MAPK cascade GO:0043410 9.16 AR IGFBP3
3 protein phosphorylation GO:0006468 9.13 CDKL5 IGFBP3 PRKX
4 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 8.62 AR IGFBP3

Molecular functions related to 47, Xxy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 steroid binding GO:0005496 8.96 AR SHBG
2 androgen binding GO:0005497 8.62 AR SHBG

Sources for 47, Xxy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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