MCID: 48X003
MIFTS: 31
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48,xxyy Syndrome
Categories:
Endocrine diseases, Fetal diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for 48,xxyy Syndrome:
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:
MalaCards categories:
Global: Rare diseases Fetal diseases Anatomical: Neuronal diseases Endocrine diseases
ICD10:
33
Orphanet: 58
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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... |
Human phenotypes related to 48,xxyy Syndrome:58 31 (show top 50) (show all 63)
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MalaCards organs/tissues related to 48,xxyy Syndrome:40
Heart,
Testes,
Bone,
Skin,
Breast,
Brain,
Lung
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Articles related to 48,xxyy Syndrome:(show top 50) (show all 51)
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GEO
for disease gene expression data for 48,xxyy Syndrome.
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