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Prader-Willi syndrome (PWS) is a genetic disorder arising from the loss of the paternal copy of a region of imprinted genes on chromosome 15 in approximately 65-75% of patients, with 20–30% of cases arising from a maternal uniparental disomy for chromosome 15 (UPD15). Up to 5% of patients have imprinting defects (ID) or translocations involving chromosome 151-5.
Growth hormone deficiency has been reported to be present in between 40%-100% of patients with PWS, depending on the diagnostic criteria used.1,6,7
GH deficiency becomes prominent in the second decade of life when children fail to show the acceleration in height usually seen in puberty. Children who have not received GH replacement therapy have shown a mean final height of 155cm in boys and 148 cm in girls2.
Prader-Willi syndrome is estimated to occur in between 1 in 15,000 and 1 in 25,000 live births8.
Clinical presentation and physical characteristics of PWS may vary across age groups.
References:
Learn more about the paediatric indications and recommended dosing for Genotropin
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PP-UNP-GBR-7812. January 2024