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Information relating to specific disease areas aligned to Pfizer’s portfolio and other resources designed for Pfizer medicines.

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Information on how to access Genotropin® (somatropin, rbe) prescribing information and adverse event reporting 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 65-70% of patients, with 25–30% of cases arising from a maternal uniparental disomy for chromosome 15 (UPD15). Approximately 1% of patients have imprinting defects (ID) or translocations involving chromosome 151,2,3,4,5,6.


​​​​​​​Growth hormone deficiency has been reported to be present in between 40%-100% of patients with PWS, depending on the diagnostic criteria used.1,7

​​​​​​​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 girls3.

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

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Prader-Willi Syndrome efficacy & safety

Learn more about how Genotropin can help your patients with Prader-Willi Syndrome on our Genotropin brand site

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Genotropin Homecare

Pfizer offers a range of homecare and patient support services to Genotropin patients

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References:
  1. Diene G, Mimoun E, Feigerlova E, Caula S, Molinas C, Grandjean H. Horm Res Paediatr 2010, 74: 121-128. 
    2. Emerick JE, Vogt KS. Int J Pediatr Endocrinol 2013, 2013: 14–14. 
    3. Cassidy SB, Schwartz S, Miller JL, Driscoll DJ. Prader-Willi syndrome. Genet Med 2012, 14: 10–26.
    4. Goldstone AP, Holland AJ, Hauffa BP, Hokken-Koelega AC. J Clin Endocrinol Metab 2008, 93: 4183-4197. 
    5. Butler MG. Curr Genomics 2011, 12: 204–215. 
    6. McCandless SE. Committee on Genetics. Pediatrics 2011, 127: 195–204. 
    7. Deal CL, Tony M, Höybye C, Allen DB, Tauber M. J Clin Endocrinol Metab 2013, 98: 1072–1087.
    8. NICE Guidance [TA188]. Human growth hormone (somatropin) for the treatment of growth failure in children. 
PP-GEN-GBR-0905. March 2021

Turner Syndrome

Watch Dr Helen Turner talk about the early diagnosis of Turner syndrome, one of the most common chromosomal disorders in women

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NICE technology appraisal guidance

Find out more about NICE’s technology appraisals on the use of Genotropin on our Genotropin brand site

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Genotropin Starter Kits​​​​​​​

A choice of personalised starter kits is available to child and adult Genotropin patients to make sure they get off to a good start with their treatment​​​​​​​

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PP-PFE-GBR-2688. December 2020

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