XXYY syndrome
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| XXYY syndrome | |
|---|---|
| |
| Synonyms | 48,XXYY |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Developmental delay, learning disabilities, behavioral problems, hypogonadism, tall stature |
| Complications | N/A |
| Onset | Birth |
| Duration | Lifelong |
| Types | |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Karyotype |
| Differential diagnosis | Klinefelter syndrome, XXY syndrome, XYY syndrome |
| Prevention | |
| Treatment | Testosterone replacement therapy, speech therapy, occupational therapy, behavioral therapy |
| Medication | |
| Prognosis | |
| Frequency | 1 in 18,000 to 1 in 40,000 male births |
| Deaths | |
A rare genetic disorder affecting males
XXYY syndrome is a rare genetic disorder that affects males. It is characterized by the presence of two extra sex chromosomes, resulting in a 48,XXYY karyotype. This condition is considered a variant of Klinefelter syndrome, which typically involves an extra X chromosome (47,XXY).
Genetics[edit | edit source]
XXYY syndrome occurs due to nondisjunction during meiosis, leading to the formation of sperm cells with an extra X and Y chromosome. When such a sperm fertilizes a normal egg, the resulting zygote has a 48,XXYY karyotype. This chromosomal anomaly affects the development and function of various body systems.
Clinical Features[edit | edit source]
Individuals with XXYY syndrome often present with a range of physical, developmental, and behavioral characteristics. Common features include:
- Tall stature
- Hypogonadism
- Gynecomastia
- Learning disabilities
- ADHD
- Autistic traits
Diagnosis[edit | edit source]
Diagnosis of XXYY syndrome is typically confirmed through karyotype analysis, which reveals the presence of the extra X and Y chromosomes. Genetic counseling is recommended for affected individuals and their families.
Management[edit | edit source]
Management of XXYY syndrome involves a multidisciplinary approach, addressing the various physical, developmental, and psychological needs of the individual. Treatment may include:
- Testosterone replacement therapy
- Educational support
- Behavioral therapy
- Speech and occupational therapy
Prognosis[edit | edit source]
The prognosis for individuals with XXYY syndrome varies depending on the severity of symptoms and the effectiveness of interventions. With appropriate support, many individuals can lead fulfilling lives.
See also[edit | edit source]
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Contributors: Prab R. Tumpati, MD
