Prader-Willi syndrome: a single center's experience in Korea

Area of Science:

• Genetics
• Pediatrics
• Endocrinology

Background:

• Prader-Willi syndrome (PWS) is a complex genetic disorder affecting chromosome 15q11-q13.
• PWS is characterized by distinct clinical features including facial dysmorphism, developmental delays, and hypotonia.

Purpose of the Study:

• To delineate the clinical features of PWS infants and toddlers.
• To evaluate the effects of two-year growth hormone (GH) treatment on PWS patients, considering gender and age at treatment initiation.

Main Methods:

• Retrospective review of clinical characteristics and GH treatment outcomes for 30 PWS patients.
• Diagnosis confirmed by molecular genetic testing and clinical manifestations.

Main Results:

• Common PWS features include developmental delays, cryptorchidism, feeding problems, and hypotonia.
• Two years of GH treatment improved head circumference, body weight, IGF-1, IGFBP-3, lean body mass, and bone mineral content.
• Significant improvements in IGFBP-3 SDS and motor development were observed in PWS patients under two years old. Male patients showed significant increases in IGF-1 and IGFBP-3 SDS.

Conclusions:

• GH treatment enhances IGFBP-3 SDS and motor development in young PWS patients.
• Gender-specific differences in IGF-1 and IGFBP-3 SDS responses to GH treatment were noted.