Login to MyKarger

New to MyKarger? Click here to sign up.



Login with Facebook

Forgot your password?

Authors, Editors, Reviewers

For Manuscript Submission, Check or Review Login please go to Submission Websites List.

Submission Websites List

Institutional Login
(Shibboleth or Open Athens)

For the academic login, please select your country in the dropdown list. You will be redirected to verify your credentials.

Original Paper

The GH/IGF-I Axis and Pituitary Function and Size in Adults with Prader-Willi Syndrome

van Nieuwpoort I.C.a · Sinnema M.b · Castelijns J.A.c · Twisk J.W.R.d · Curfs L.M.G.b · Drent M.L.a

Author affiliations

aSection of Endocrinology, Department of Internal Medicine, VU University Medical Center and Neuroscience Campus Amsterdam, Amsterdam, bDepartment of Clinical Genetics – Governor Kremers Centre, Maastricht University Medical Centre, Maastricht, cDepartment of Radiology, VU University Medical Center, and dDepartment of Clinical Epidemiology and Biostatistics and EMGO Institute, VU University Medical Center and Institute of Health Sciences, VU University, Amsterdam, The Netherlands

Related Articles for ""

Horm Res Paediatr 2011;75:403–411

Do you have an account?

Login Information





Contact Information










I have read the Karger Terms and Conditions and agree.



Login Information





Contact Information










I have read the Karger Terms and Conditions and agree.



To view the fulltext, please log in

To view the pdf, please log in

Buy

  • FullText & PDF
  • Unlimited re-access via MyKarger
  • Unrestricted printing, no saving restrictions for personal use
read more

CHF 38.00 *
EUR 35.00 *
USD 39.00 *

Select

KAB

Buy a Karger Article Bundle (KAB) and profit from a discount!

If you would like to redeem your KAB credit, please log in.


Save over 20% compared to the individual article price.
Learn more

Rent/Cloud

  • Rent for 48h to view
  • Buy Cloud Access for unlimited viewing via different devices
  • Synchronizing in the ReadCube Cloud
  • Printing and saving restrictions apply

Rental: USD 8.50
Cloud: USD 20.00


Select

Subscribe

  • Access to all articles of the subscribed year(s) guaranteed for 5 years
  • Unlimited re-access via Subscriber Login or MyKarger
  • Unrestricted printing, no saving restrictions for personal use
read more

Subcription rates


Select

* The final prices may differ from the prices shown due to specifics of VAT rules.

Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: August 23, 2010
Accepted: July 12, 2010
Published online: January 27, 2011
Issue release date: June 2011

Number of Print Pages: 9
Number of Figures: 1
Number of Tables: 4

ISSN: 1663-2818 (Print)
eISSN: 1663-2826 (Online)

For additional information: https://www.karger.com/HRP

Abstract

Background: In adults with Prader-Willi syndrome (PWS), limited information is available about pituitary function, more specifically the prevalence of growth hormone deficiency (GHD). The aim of this study was to gain more insight into endocrine function in PWS adults, with emphasis on GH secretion. Methods: 15 randomly selected adult PWS individuals were included and 14 healthy brothers and sisters served as a control group. Main outcome measures were IGF-I, IGFBP-3 and peak GH level after a combined GHRH-arginine test. Other pituitary hormone deficits are diagnosed based on serum levels of the concerning hormones. The size of the pituitary gland was measured on MRI images. Results: In PWS adults, IGF-I levels were low and IGFBP-3 levels normal when compared to healthy controls. GHD was diagnosed in 8–38% of the PWS patients, depending on the criteria used. Hypogonadism was present in 87% of the patients. Hypothyroidism and adrenal insufficiency could also be demonstrated. Anterior pituitary size was lower in PWS individuals when compared to healthy controls. Conclusion: In this study, pituitary hormone deficiencies are demonstrated in a considerable number of adults with PWS, hypogonadism and GHD being most prominent. Furthermore, the anterior pituitary is smaller in comparison with healthy controls.

© 2011 S. Karger AG, Basel


References

  1. Prader A, Labhart A, Willi H: Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach myatonieartigem Zustand im Neugeborenenalter. Schweiz Med Wochenschr 1956;86:1260–1261.
  2. Burman P, Ritzen EM, Lindgren AC: Endocrine dysfunction in Prader-Willi syndrome: a review with special reference to GH. Endocr Rev 2001;22:787–799.
  3. Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY, Greenberg F: Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 1993;91:398–402.
  4. Cassidy SB: Prader-Willi syndrome. J Med Genet 1997;34:917–923.
  5. Swaab DF: Prader-Willi syndrome and the hypothalamus. Acta Paediatr Suppl 1997;423:50–54.
  6. Miller L, Angulo M, Price D, Taneja S: MR of the pituitary in patients with Prader-Willi syndrome: size determination and imaging findings. Pediatr Radiol 1996;26:43–47.
  7. Iughetti L, Bosio L, Corrias A, Gargantini L, Ragusa L, Livieri C, Predieri B, Bruzzi P, Caselli G, Grugni G: Pituitary height and neuroradiological alterations in patients with Prader-Labhart-Willi syndrome. Eur J Pediatr 2008;167:701–702.
  8. Tauber M, Barbeau C, Jouret B, Pienkowski C, Malzac P, Moncla A, Rochiccioli P: Auxological and endocrine evolution of 28 children with Prader-Willi syndrome: effect of GH therapy in 14 children. Horm Res 2000;53:279–287.
  9. Beccaria L, Bosio L, Sanzari A, Aimaretti G, Ghigo E, Chiumello G: GH secretion in Prader-Labhart-Willi syndrome: somatotrope responsiveness to GHRH is enhanced by arginine but not by pyridostigmine. J Pediatr Endocrinol Metab 1996;9:577–583.
  10. Bray GA, Dahms WT, Swerdloff RS, Fiser RH, Atkinson RL, Carrel RE: The Prader-Willi syndrome: a study of 40 patients and a review of the literature. Medicine (Baltimore) 1983;62:59–80.
  11. Corrias A, Bellone J, Beccaria L, Bosio L, Trifiro G, Livieri C, Ragusa L, Salvatoni A, Andreo M, Ciampalini P, Tonini G, Crino A: GH/IGF-I axis in Prader-Willi syndrome: evaluation of IGF-I levels and of the somatotroph responsiveness to various provocative stimuli. Genetic Obesity Study Group of Italian Society of Pediatric Endocrinology and Diabetology. J Endocrinol Invest 2000;23:84–89.
  12. Grugni G, Marzullo P, Ragusa L, Sartorio A, Trifiro G, Liuzzi A, Crino A: Impairment of GH responsiveness to combined GH-releasing hormone and arginine administration in adult patients with Prader-Willi syndrome. Clin Endocrinol (Oxf) 2006;65:492–499.
  13. Hoybye C: Endocrine and metabolic aspects of adult Prader-Willi syndrome with special emphasis on the effect of growth hormone treatment. Growth Horm IGF Res 2004;14:1–15.
  14. Partsch CJ, Lammer C, Gillessen-Kaesbach G, Pankau R: Adult patients with Prader-Willi syndrome: clinical characteristics, life circumstances and growth hormone secretion. Growth Horm IGF Res 2000;10(suppl B):S81–S85.
  15. Davies PS: Growth hormone therapy in Prader-Willi syndrome. Int J Obes Relat Metab Disord 2001;25:2–7.
  16. Eiholzer U, Stutz K, Weinmann C, Torresani T, Molinari L, Prader A: Low insulin, IGF-I and IGFBP-3 levels in children with Prader-Labhart-Willi syndrome. Eur J Pediatr 1998;157:890–893.
  17. Eiholzer U, Bachmann S, l’Allemand D: Is there growth hormone deficiency in Prader-Willi syndrome? Six arguments to support the presence of hypothalamic growth hormone deficiency in Prader-Willi syndrome. Horm Res 2000;53(suppl 3):44–52.
  18. Goldstone AP: Prader-Willi syndrome: advances in genetics, pathophysiology and treatment. Trends Endocrinol Metab 2004;15:12–20.
  19. Hoybye C, Frystyk J, Thoren M: The growth hormone-insulin-like growth factor axis in adult patients with Prader-Willi syndrome. Growth Horm IGF Res 2003;13:269–274.
  20. Eiholzer U, l’Allemand D, Rousson V, Schlumpf M, Gasser T, Girard J, Gruters A, Simoni M: Hypothalamic and gonadal components of hypogonadism in boys with Prader-Labhart-Willi syndrome. J Clin Endocrinol Metab 2006;91:892–898.
  21. Hirsch HJ, Eldar-Geva T, Benarroch F, Rubinstein O, Gross-Tsur V: Primary testicular dysfunction is a major contributor to abnormal pubertal development in males with Prader-Willi syndrome. J Clin Endocrinol Metab 2009;94:2262–2268.
  22. Jeffcoate WJ, Laurance BM, Edwards CR, Besser GM: Endocrine function in the Prader-Willi syndrome. Clin Endocrinol (Oxf) 1980;12:81–89.
  23. Lee PD: Disease management of Prader-Willi syndrome. Expert Opin Pharmacother 2002;3:1451–459.
  24. Muller J: Hypogonadism and endocrine metabolic disorders in Prader-Willi syndrome. Acta Paediatr Suppl 1997;423:58–59.
  25. Butler MG, Theodoro M, Skouse JD: Thyroid function studies in Prader-Willi syndrome. Am J Med Genet A 2007;143:488–492.
  26. Cassidy SB, Driscoll DJ: Prader-Willi syndrome. Eur J Hum Genet 2009;17:3–13.
  27. Festen DA, Visser TJ, Otten BJ, Wit JM, Duivenvoorden HJ, Hokken-Koelega AC: Thyroid hormone levels in children with Prader-Willi syndrome before and during growth hormone treatment. Clin Endocrinol (Oxf) 2007;67:449–456.
  28. Zipf WB: Prader-Willi syndrome: the care and treatment of infants, children, and adults. Adv Pediatr 2004;51:409–434.
    External Resources
  29. De Lind van Wijngaarden RF, Otten BJ, Festen DA, Joosten KF, de Jong FH, Sweep FC, Hokken-Koelega AC: High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome. J Clin Endocrinol Metab 2008;93:1649–1654.
  30. Lukaski HC, Johnson PE, Bolonchuk WW, Lykken GI: Assessment of fat-free mass using bioelectrical impedance measurements of the human body. Am J Clin Nutr 1985;41:810–817.
  31. Aimaretti G, Corneli G, Razzore P, Bellone S, Baffoni C, Arvat E, Camanni F, Ghigo E: Comparison between insulin-induced hypoglycemia and growth hormone-releasing hormone plus arginine as provocative tests for the diagnosis of growth hormone deficiency in adults. J Clin Endocrinol Metab 1998;83:1615–1618.
  32. Corneli G, Di Somma C, Baldelli R, Rovere S, Gasco V, Croce CG, Grottoli S, Maccario M, Colao A, Lombardi G, Ghigo E, Camanni F, Aimaretti G: The cut-off limits of the GH response to GH-releasing hormone-arginine test related to body mass index. Eur J Endocrinol 2005;153:257–264.
  33. Brambilla P, Bosio L, Manzoni P, Pietrobelli A, Beccaria L, Chiumello G: Peculiar body composition in patients with Prader-Labhart-Willi syndrome. Am J Clin Nutr 1997;65:1369–1374.
  34. Miller JL, Goldstone AP, Couch JA, Shuster J, He G, Driscoll DJ, Liu Y, Schmalfuss IM: Pituitary abnormalities in Prader-Willi syndrome and early onset morbid obesity. Am J Med Genet A 2008;146A:570–577.
  35. Goldstone AP, Holland AJ, Hauffa BP, Hokken-Koelega AC, Tauber M: Recommendations for the diagnosis and management of Prader-Willi syndrome. J Clin Endocrinol Metab 2008;93:4183–4197.
  36. Aimaretti G, Bellone S, Baffoni C, Cornel G, Origlia C, Di VL, Rovere S, Arvat E, Camanni F, Ghigo E: Short procedure of GHRH plus arginine test in clinical practice. Pituitary 2001;4:129–134.
  37. Grugni G, Crino A, Bertocco P, Marzullo P: Body fat excess and stimulated growth hormone levels in adult patients with Prader-Willi syndrome. Am J Med Genet A 2009;149A:726–731.
  38. Sode-Carlsen R, Farholt S, Rabben KF, Bollerslev J, Schreiner T, Jurik AG, Christiansen JS, Hoybye C: Body composition, endocrine and metabolic profiles in adults with Prader-Willi syndrome. Growth Horm IGF Res 2010;20:179–184.
  39. Grugni G, Giardino D, Crino A, Malvestiti F, Ballarati L, Di GG, Marzullo P: Growth hormone secretion among adult patients with Prader-Willi syndrome due to different genetic subtypes. J Endocrinol Invest 2010 (in press).
  40. Makimura H, Stanley T, Mun D, You SM, Grinspoon S: The effects of central adiposity on growth hormone response to growth hormone-releasing hormone-arginine stimulation testing in men. J Clin Endocrinol Metab 2008;93:4254–4260.
  41. Mogul HR, Lee PD, Whitman BY, Zipf WB, Frey M, Myers S, Cahan M, Pinyerd B, Southren AL: Growth hormone treatment of adults with Prader-Willi syndrome and growth hormone deficiency improves lean body mass, fractional body fat, and serum triiodothyronine without glucose impairment: results from the United States multicenter trial. J Clin Endocrinol Metab 2008;93:1238–1245.

Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: August 23, 2010
Accepted: July 12, 2010
Published online: January 27, 2011
Issue release date: June 2011

Number of Print Pages: 9
Number of Figures: 1
Number of Tables: 4

ISSN: 1663-2818 (Print)
eISSN: 1663-2826 (Online)

For additional information: https://www.karger.com/HRP


Copyright / Drug Dosage / Disclaimer

Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.