MCID: 48X003
MIFTS: 31

48,xxyy Syndrome

Categories: Endocrine diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for 48,xxyy Syndrome

MalaCards integrated aliases for 48,xxyy Syndrome:

Name: 48,xxyy Syndrome 52 25 58 71
Xxyy Syndrome 52 25
48,xxyy Variant of Klinefelter's Syndrome 52
48,xxyy Klinefelter Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
48,xxyy syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Childhood,Infancy,Neonatal; Age of death: any age;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for 48,xxyy Syndrome

Genetics Home Reference : 25 48,XXYY syndrome is a chromosomal condition that causes infertility, developmental and behavioral disorders, and other health problems in males. 48,XXYY disrupts male sexual development. Adolescent and adult males with this condition typically have small testes that do not produce enough testosterone, which is the hormone that directs male sexual development. A shortage of testosterone during puberty can lead to reduced facial and body hair, poor muscle development, low energy levels, and an increased risk for breast enlargement (gynecomastia). Because their testes do not function normally, males with 48, XXYY syndrome have an inability to father children (infertility). 48,XXYY syndrome can affect other parts of the body as well. Males with 48,XXYY syndrome are often taller than other males their age with an average adult height of 6 feet 4 inches (193 cm). They tend to develop a tremor that typically starts in adolescence and increases with age. Dental problems are frequently seen with this condition; they include delayed appearance of the primary (baby) or secondary (adult) teeth, thin tooth enamel, crowded and/or misaligned teeth, and multiple cavities. As affected males get older, they may develop a narrowing of the blood vessels in the legs, called peripheral vascular disease. Peripheral vascular disease can cause skin ulcers to form. Affected males are also at risk for developing a type of clot called a deep vein thrombosis (DVT) that occurs in the deep veins of the legs. Additionally, males with 48,XXYY syndrome may have flat feet (pes planus), elbow abnormalities, abnormal fusion of certain bones in the forearm (radioulnar synostosis), allergies, asthma, type 2 diabetes, seizures, and congenital heart defects. Most males with 48,XXYY syndrome have an IQ that ranges from 70-80 with some degree of difficulty with speech and language development. Learning disabilities, especially those that are language-based, are very common in males with this disorder. Affected males seem to perform better at tasks focused on math, visual-spatial skills such as puzzles, and memorization of locations or directions. Some boys with 48,XXYY syndrome have delayed development of motor skills such as sitting, standing, and walking that can lead to poor coordination. Affected males have higher than average rates of behavioral disorders, such as attention-deficit/hyperactivity disorder (ADHD); mood disorders, including anxiety and bipolar disorder; and autism spectrum disorder, which affects communication and social interaction.

MalaCards based summary : 48,xxyy Syndrome, also known as xxyy syndrome, is related to 48,xyyy and hypogonadotropic hypogonadism. An important gene associated with 48,xxyy Syndrome is POMC (Proopiomelanocortin). Affiliated tissues include heart, testes and bone, and related phenotypes are intellectual disability and global developmental delay

NIH Rare Diseases : 52 48,XXYY syndrome is a chromosomal condition, characterized by the presence of an extra X and Y chromosome in males, that causes medical and behavioral problems. 48,XXYY can be considered a variant of Klinefelter syndrome . Individuals with 48,XXYY are usually considerably tall with small testes that do not function normally leading to infertility . In addition, affected individuals have behavioral problems such as anxiety, aggressiveness, problems communicating, hyperactivity, depression, as well as general learning disabilities and intellectual impairment. Other medical probelms can include congenital heart defects , bone abnormalities, tremor, obesity, type 2 diabetes and/or respiratory problems. Patients have an essentially normal life expectancy but require regular medical follow-up.

Wikipedia : 74 XXYY syndrome is a sex chromosome anomaly in which males have an extra X and Y chromosome. Human cells... more...

Related Diseases for 48,xxyy Syndrome

Diseases related to 48,xxyy Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 48,xyyy 10.7
2 hypogonadotropic hypogonadism 10.2
3 tremor 10.2
4 seminoma 10.2
5 precocious puberty 10.2
6 central precocious puberty 10.2
7 hypogonadism 10.1
8 hypertelorism 10.0
9 down syndrome 10.0
10 cryptorchidism, unilateral or bilateral 10.0
11 taurodontism 10.0
12 alacrima, achalasia, and mental retardation syndrome 10.0
13 autism spectrum disorder 10.0
14 inguinal hernia 10.0
15 synostosis 10.0
16 hypothyroidism 10.0
17 thrombocytopenia 10.0
18 epilepsy 10.0
19 radioulnar synostosis 10.0
20 colpocephaly 10.0
21 gastroesophageal reflux 10.0
22 tetralogy of fallot 10.0
23 hypouricemia, renal, 1 10.0
24 ataxia and polyneuropathy, adult-onset 10.0
25 joint laxity, short stature, and myopia 10.0
26 heart disease 10.0
27 infant gynecomastia 10.0
28 myopia 10.0
29 gynecomastia 10.0
30 azoospermia 10.0
31 interstitial lung disease 10.0
32 mood disorder 10.0
33 essential tremor 10.0
34 infertility 10.0
35 peripheral nervous system disease 10.0
36 retinal degeneration 10.0
37 polyhydramnios 10.0
38 lung disease 10.0
39 fundus dystrophy 10.0
40 neuropathy 10.0
41 learning disability 10.0
42 cleft lip 10.0
43 pathologic nystagmus 10.0
44 hypoglycemia 10.0
45 47,xyy 10.0
46 inherited retinal disorder 10.0

Graphical network of the top 20 diseases related to 48,xxyy Syndrome:



Diseases related to 48,xxyy Syndrome

Symptoms & Phenotypes for 48,xxyy Syndrome

Human phenotypes related to 48,xxyy Syndrome:

58 31 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 azoospermia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000027
4 decreased testicular size 58 31 hallmark (90%) Very frequent (99-80%) HP:0008734
5 infertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000789
6 hypergonadotropic hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000815
7 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
8 chronic otitis media 58 31 frequent (33%) Frequent (79-30%) HP:0000389
9 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
10 open bite 58 31 frequent (33%) Frequent (79-30%) HP:0010807
11 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
12 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
13 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
14 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
15 thick lower lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000179
16 tremor 58 31 frequent (33%) Frequent (79-30%) HP:0001337
17 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
18 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
19 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
20 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
21 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
22 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
23 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
24 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
25 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
26 taurodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000679
27 abnormality of dental enamel 58 31 frequent (33%) Frequent (79-30%) HP:0000682
28 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
29 flat occiput 58 31 frequent (33%) Frequent (79-30%) HP:0005469
30 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
31 asthma 58 31 frequent (33%) Frequent (79-30%) HP:0002099
32 blepharophimosis 58 31 frequent (33%) Frequent (79-30%) HP:0000581
33 radioulnar synostosis 58 31 frequent (33%) Frequent (79-30%) HP:0002974
34 gynecomastia 58 31 frequent (33%) Frequent (79-30%) HP:0000771
35 tall stature 58 31 frequent (33%) Frequent (79-30%) HP:0000098
36 elbow dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0003042
37 abnormality of the shoulder 58 31 frequent (33%) Frequent (79-30%) HP:0003043
38 type ii diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0005978
39 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
40 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
41 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
42 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
43 stereotypy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000733
44 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
45 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
46 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
47 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
48 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
49 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
50 facial asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0000324

Drugs & Therapeutics for 48,xxyy Syndrome

Search Clinical Trials , NIH Clinical Center for 48,xxyy Syndrome

Genetic Tests for 48,xxyy Syndrome

Anatomical Context for 48,xxyy Syndrome

MalaCards organs/tissues related to 48,xxyy Syndrome:

40
Heart, Testes, Bone, Skin, Breast, Brain, Lung

Publications for 48,xxyy Syndrome

Articles related to 48,xxyy Syndrome:

(show top 50) (show all 51)
# Title Authors PMID Year
1
48,XXYY syndrome presenting with long-term infertility and newly observed neck deformities: a case report. 61
32389125 2020
2
Interstitial lung disease reveals 48,XXYY syndrome in a child. 61
31721284 2020
3
First prenatal case of 48,XXYY syndrome detected by maternal cell-free DNA testing. 61
31339398 2020
4
Fertility achieved through in vitro fertilization in a male patient with 48,XXYY syndrome. 61
28980534 2018
5
A rare sex chromosome aneuploidy: 48,XXYY syndrome. 61
27489468 2016
6
Endodontic management of a hypertaurodontic tooth associated with 48, XXYY syndrome: A review and case report. 61
26069418 2015
7
Brain and behavior in 48, XXYY syndrome. 61
26106537 2015
8
[48,XXYY men with azoospermia: how to manage infertility?]. 61
24934769 2014
9
Retinal dysfunction and high myopia in association with 48,XXYY syndrome. 61
24048723 2013
10
48, XXYY syndrome associated tremor. 61
23487807 2013
11
Distinct mechanism of formation of the 48, XXYY karyotype. 61
23822881 2013
12
Prenatal ultrasound diagnosis of a 48,XXYY syndrome. 61
23473874 2013
13
An adolescent with 48,XXYY syndrome with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder and renal malformations. 61
23087874 2012
14
Duane syndrome in association with 48,XXYY karyotype. 61
21680214 2011
15
48,XXYY in a General Adult Psychiatry Department. 61
20436773 2010
16
A case of 48,XXYY syndrome detected prenatally by QF-PCR. 61
19916722 2009
17
Tremor in 48,XXYY syndrome. 61
19705466 2009
18
A new look at XXYY syndrome: medical and psychological features. 61
18481271 2008
19
XXYY syndrome with schizophrenia: implications for genetic research in psychotic spectrum disorders. 61
17828661 2007
20
48,XXYY syndrome, mood disorder, and aggression. 61
15994727 2005
21
[Fluorescence in situ hybridization detection of peripheral lymphocyte and ultrastructural study of the testicular tissue in a 48,XXYY syndrome patient]. 61
14556200 2003
22
Clinical findings and phenotype in a toddler with 48,XXYY syndrome. 61
12784313 2003
23
Improvement of peripheral neuropathy by testosterone in a patient with 48,XXYY syndrome. 61
11127505 2000
24
[Klinefelter 48 XXYY syndrome. Case report]. 61
11203413 2000
25
Congenital camptodactyly associated with the 48,XXYY syndrome. 61
9555582 1998
26
An XXYY male with schizophrenia. 61
8887709 1996
27
Congenital heart disease in the 48,XXYY syndrome. 61
7586648 1995
28
XYY syndrome and other Y chromosome polysomies. Mental status and psychosocial functioning. 61
8588846 1995
29
The 48,XXYY syndrome: a case detected by maternal serum alpha-fetoprotein screening. 61
7526370 1994
30
48,XXYY syndrome associated with acromegaloidism. 61
8389624 1993
31
[48,XXYY syndrome in a boy with essential tremor. Comparison with 120 cases from the literature]. 61
1614446 1992
32
48, XXYY syndrome associated with ethylenediaminetetraacetic acid (EDTA)-dependent pseudothrombocytopenia. 61
1568036 1992
33
The 48,XXYY syndrome. Follow-up data on clinical characteristics and psychological findings in 4 patients. 61
1781953 1991
34
[Clinical study and hormonal evaluation of a 48, XXYY male. Comparison with previously published cases]. 61
2101492 1990
35
A male patient with 48,XXYY syndrome: importance of distinction from Klinefelter's syndrome. 61
2387088 1990
36
[A clinical description and hormonal assessment of a 48, XXYY male. A comparison with cases previously published]. 61
2130427 1990
37
[48,XXYY syndrome in a 2-year-old boy]. 61
3381208 1988
38
[A case of 48,XXYY syndrome with recurrent foot ulcers and renal hypouricemia. Effective treatment of ulcer by autologous skin transplantation]. 61
3309097 1987
39
[The 48 XXYY syndrome]. 61
3731234 1986
40
Renal hypouricaemia in a patient with 48,XXYY syndrome. 61
3714610 1986
41
[48,XXYY syndrome in a 4-year-old subject]. 61
3725607 1986
42
Mental illness, epilepsy and hypothyroidism in XXYY syndrome. 61
6743937 1984
43
The prenatal diagnosis of the 48,XXYY syndrome. 61
7145838 1982
44
[New case of 48,XXYY syndrome]. 61
7197386 1981
45
XXYY syndrome discovered on routine physical examination. 61
7309601 1980
46
[A case of 48, XXYY syndrome (the first reported case in Taiwan) (author's transl)]. 61
281454 1978
47
The 48,XXYY syndrome. 61
568179 1978
48
[48, XXYY syndrome]. 61
878040 1977
49
[48/XXYY syndrome. Clinical study of a case with peculiarities not mentioned before]. 61
1135479 1975
50
Combined Klinefelter-Down syndrome or XXYY syndrome? 61
4271719 1973

Variations for 48,xxyy Syndrome

Expression for 48,xxyy Syndrome

Search GEO for disease gene expression data for 48,xxyy Syndrome.

Pathways for 48,xxyy Syndrome

GO Terms for 48,xxyy Syndrome

Sources for 48,xxyy Syndrome

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57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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