MCID: 48X003
MIFTS: 30

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 20 43 58 71
Xxyy Syndrome 20 43
48,xxyy Variant of Klinefelter's Syndrome 20
48,xxyy Klinefelter Syndrome 20

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

MedlinePlus Genetics : 43 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 testes and heart, and related phenotypes are intellectual disability and global developmental delay

GARD : 20 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

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 65)
# 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 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
8 tremor 58 31 frequent (33%) Frequent (79-30%) HP:0001337
9 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
10 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
11 chronic otitis media 58 31 frequent (33%) Frequent (79-30%) HP:0000389
12 open bite 58 31 frequent (33%) Frequent (79-30%) HP:0010807
13 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
14 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
15 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
16 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
17 thick lower lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000179
18 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
19 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
20 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
21 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
22 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
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 flat occiput 58 31 frequent (33%) Frequent (79-30%) HP:0005469
29 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
30 asthma 58 31 frequent (33%) Frequent (79-30%) HP:0002099
31 blepharophimosis 58 31 frequent (33%) Frequent (79-30%) HP:0000581
32 radioulnar synostosis 58 31 frequent (33%) Frequent (79-30%) HP:0002974
33 gynecomastia 58 31 frequent (33%) Frequent (79-30%) HP:0000771
34 tall stature 58 31 frequent (33%) Frequent (79-30%) HP:0000098
35 elbow dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0003042
36 hypotonia 31 frequent (33%) HP:0001252
37 abnormal shoulder morphology 31 frequent (33%) HP:0003043
38 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
39 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
40 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
41 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
42 type ii diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0005978
43 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
44 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
45 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
46 stereotypy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000733
47 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
48 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
49 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
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
Testes, Heart

Publications for 48,xxyy Syndrome

Articles related to 48,xxyy Syndrome:

(show top 50) (show all 52)
# 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
[48,XXYY syndrome: A report of four cases]. 61
33346419 2020
5
Fertility achieved through in vitro fertilization in a male patient with 48,XXYY syndrome. 61
28980534 2018
6
A rare sex chromosome aneuploidy: 48,XXYY syndrome. 61
27489468 2016
7
Endodontic management of a hypertaurodontic tooth associated with 48, XXYY syndrome: A review and case report. 61
26069418 2015
8
Brain and behavior in 48, XXYY syndrome. 61
26106537 2015
9
[48,XXYY men with azoospermia: how to manage infertility?]. 61
24934769 2014
10
Retinal dysfunction and high myopia in association with 48,XXYY syndrome. 61
24048723 2013
11
48, XXYY syndrome associated tremor. 61
23487807 2013
12
Distinct mechanism of formation of the 48, XXYY karyotype. 61
23822881 2013
13
Prenatal ultrasound diagnosis of a 48,XXYY syndrome. 61
23473874 2013
14
An adolescent with 48,XXYY syndrome with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder and renal malformations. 61
23087874 2012
15
Duane syndrome in association with 48,XXYY karyotype. 61
21680214 2011
16
48,XXYY in a General Adult Psychiatry Department. 61
20436773 2010
17
A case of 48,XXYY syndrome detected prenatally by QF-PCR. 61
19916722 2009
18
Tremor in 48,XXYY syndrome. 61
19705466 2009
19
A new look at XXYY syndrome: medical and psychological features. 61
18481271 2008
20
XXYY syndrome with schizophrenia: implications for genetic research in psychotic spectrum disorders. 61
17828661 2007
21
48,XXYY syndrome, mood disorder, and aggression. 61
15994727 2005
22
[Fluorescence in situ hybridization detection of peripheral lymphocyte and ultrastructural study of the testicular tissue in a 48,XXYY syndrome patient]. 61
14556200 2003
23
Clinical findings and phenotype in a toddler with 48,XXYY syndrome. 61
12784313 2003
24
Improvement of peripheral neuropathy by testosterone in a patient with 48,XXYY syndrome. 61
11127505 2000
25
[Klinefelter 48 XXYY syndrome. Case report]. 61
11203413 2000
26
Congenital camptodactyly associated with the 48,XXYY syndrome. 61
9555582 1998
27
An XXYY male with schizophrenia. 61
8887709 1996
28
Congenital heart disease in the 48,XXYY syndrome. 61
7586648 1995
29
XYY syndrome and other Y chromosome polysomies. Mental status and psychosocial functioning. 61
8588846 1995
30
The 48,XXYY syndrome: a case detected by maternal serum alpha-fetoprotein screening. 61
7526370 1994
31
48,XXYY syndrome associated with acromegaloidism. 61
8389624 1993
32
[48,XXYY syndrome in a boy with essential tremor. Comparison with 120 cases from the literature]. 61
1614446 1992
33
48, XXYY syndrome associated with ethylenediaminetetraacetic acid (EDTA)-dependent pseudothrombocytopenia. 61
1568036 1992
34
The 48,XXYY syndrome. Follow-up data on clinical characteristics and psychological findings in 4 patients. 61
1781953 1991
35
[Clinical study and hormonal evaluation of a 48, XXYY male. Comparison with previously published cases]. 61
2101492 1990
36
A male patient with 48,XXYY syndrome: importance of distinction from Klinefelter's syndrome. 61
2387088 1990
37
[A clinical description and hormonal assessment of a 48, XXYY male. A comparison with cases previously published]. 61
2130427 1990
38
[48,XXYY syndrome in a 2-year-old boy]. 61
3381208 1988
39
[A case of 48,XXYY syndrome with recurrent foot ulcers and renal hypouricemia. Effective treatment of ulcer by autologous skin transplantation]. 61
3309097 1987
40
[The 48 XXYY syndrome]. 61
3731234 1986
41
Renal hypouricaemia in a patient with 48,XXYY syndrome. 61
3714610 1986
42
[48,XXYY syndrome in a 4-year-old subject]. 61
3725607 1986
43
Mental illness, epilepsy and hypothyroidism in XXYY syndrome. 61
6743937 1984
44
The prenatal diagnosis of the 48,XXYY syndrome. 61
7145838 1982
45
[New case of 48,XXYY syndrome]. 61
7197386 1981
46
XXYY syndrome discovered on routine physical examination. 61
7309601 1980
47
The 48,XXYY syndrome. 61
568179 1978
48
[A case of 48, XXYY syndrome (the first reported case in Taiwan) (author's transl)]. 61
281454 1978
49
[48, XXYY syndrome]. 61
878040 1977
50
[48/XXYY syndrome. Clinical study of a case with peculiarities not mentioned before]. 61
1135479 1975

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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