Management

No disease-specific therapy exists; management is supportive and multidisciplinary.

Recommended care:
•    Developmental support: early intervention, special education
•    Endocrine care:evaluation and treatment of hypogonadism
•    Growth monitoring:nutritional and endocrine assessment
•    Cardiac evaluation:echocardiography if anomalies suspected
•    Neurologic care:assessment of developmental delay, ADHD, seizures (if present)
•    Genetic counseling:X-linked inheritance pattern

Surveillance:
•    Growth parameters
•    Pubertal development
•    Neurodevelopmental progress
•    Screening for associated congenital anomalies