XXXYY syndrome
Editor-In-Chief: Prab R Tumpati, MD
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| XXXYY syndrome | |
|---|---|
| |
| Synonyms | 48,XXXY syndrome |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Developmental delay, intellectual disability, hypogonadism, tall stature |
| Complications | N/A |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Karyotype analysis |
| Differential diagnosis | Klinefelter syndrome, XXYY syndrome |
| Prevention | None |
| Treatment | Hormone replacement therapy, speech therapy, occupational therapy |
| Medication | Testosterone |
| Prognosis | Variable |
| Frequency | Rare |
| Deaths | |
A rare chromosomal disorder
Overview[edit | edit source]
XXXYY syndrome is a rare chromosomal disorder characterized by the presence of three X chromosomes and two Y chromosomes in males, resulting in a 48,XXXY karyotype. This condition is a type of sex chromosome aneuploidy, which affects the development of physical and cognitive traits.
Genetics[edit | edit source]
XXXYY syndrome occurs due to nondisjunction during meiosis, leading to an extra X and Y chromosome. The karyotype 48,XXXY is the result of an error in the distribution of sex chromosomes during the formation of sperm or egg cells. This syndrome is not inherited but occurs as a random event during the formation of reproductive cells.
Clinical Features[edit | edit source]
Individuals with XXXYY syndrome may exhibit a range of clinical features, including:
- Hypogonadism
- Gynecomastia
- Tall stature
- Learning disabilities
- Speech and language delays
- Behavioral issues
Diagnosis[edit | edit source]
Diagnosis of XXXYY syndrome is typically made through karyotyping, which can identify the presence of the extra X and Y chromosomes. Prenatal diagnosis is possible through amniocentesis or chorionic villus sampling.
Management[edit | edit source]
Management of XXXYY syndrome involves a multidisciplinary approach, including:
- Endocrine therapy for hypogonadism
- Speech therapy
- Occupational therapy
- Behavioral therapy
Prognosis[edit | edit source]
The prognosis for individuals with XXXYY syndrome varies depending on the severity of symptoms and the effectiveness of interventions. Early diagnosis and intervention can improve outcomes, particularly in terms of cognitive and social development.
See also[edit | edit source]
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Contributors: Prab R. Tumpati, MD
