XXYY syndrome
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| 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
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
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
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
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
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.
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Contributors: Prab R. Tumpati, MD
