48,xxyy Syndrome

External Ids:

MESH via Orphanet 44 D007713 ICD10 via Orphanet 33 Q98.8 UMLS via Orphanet 72 C2936741

Orphanet 58 ORPHA10 SNOMED-CT via HPO 68 1023001 111266001 115244002 118600007 125617002 128602000 128613002 14760008 15253005 15296000 16331000 188676008 194021007 195967001 203534009 204878001 21061000119107 21186006 21964009 22006008 22066006 224958001 225595004 228156007 235595009 246545002 246799009 247578003 248328003 248583008 26079004 276411001 313307000 33313004 34911001 35489007 35580009 370999003 396232000 398151007 398152000 398309008 406506008 408856003 408857007 414915002 414916001 417558002 425558002 43614003 44054006 4754008 48188009 48334007 48694002 51744007 52781008 53226007 5507002 563001 5639000 63567004 64217002 69322001 698065002 7461003 78667006 8011004 80967001 84328007 84757009 85102008 8619003 87979003 91138005 91175000 991000119106 more UMLS 71 C2936741

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...

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

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