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Disease informationAdult Growth Hormone Deficiency (aGHD)Paediatric Growth Hormone Deficiency (pGHD)Small for Gestational Age (SGA)Prader-Willi SyndromeTurner SyndromeChronic Renal InsufficiencySupport & ResourcesVideosMaterials

Click here for Genotropin (somatropin) Prescribing Information. Adverse event reporting information can be found at the bottom of the page.

Growth Hormone Deficiency in Prader-Willi Syndrome

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.

Aetiology of PWS

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.

Common clinical characteristics include8:
  • Obesity
  • Obesity-related diseases
  • Hypogonadism
  • Short stature
  • Hypotonia
  • Dysmorphic features
  • Hypoventilation
  • Changes in body composition
  • Behavioural problems

References:

Emerick JE, Vogt KS. Int J Pediatr Endocrinol 2013, 2013: 14.Cassidy SB, Schwartz S, Miller JL, Driscoll DJ. Prader-Willi syndrome. Genet Med 2012, 14: 10–26.Goldstone AP, Holland AJ, Hauffa BP, Hokken-Koelega AC. J Clin Endocrinol Metab 2008, 93: 4183-4197. Butler MG. Curr Genomics 2011, 12: 204–215.McCandless SE. Committee on Genetics. Pediatrics 2011, 127: 195–204.Diene G, Mimoun E, Feigerlova E, Caula S, Molinas C, Grandjean H. Horm Res Paediatr 2010, 74: 121-128.Deal CL, Tony M, Höybye C, Allen DB, Tauber M. J Clin Endocrinol Metab 2013, 98: 1072–1087.NICE Guidance [TA188]. Human growth hormone (somatropin) for the treatment of growth failure in children.
PP-GEN-GBR-1662. February 2023
Genotropin for paediatric growth hormone disorders

Learn more about the paediatric indications and recommended dosing for Genotropin

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