XXXYY syndrome

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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XXXYY syndrome
File:XXXYY syndrome karyotype.jpg
Synonyms	48,XXXY syndrome
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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

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

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

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

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

Management of XXXYY syndrome involves a multidisciplinary approach, including:

• Endocrine therapy for hypogonadism
• Speech therapy
• Occupational therapy
• Behavioral therapy

Prognosis

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

• Klinefelter syndrome
• XYY syndrome
• Turner syndrome