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Prader–Willi Syndrome and Hypogonadism: Comparison
Please note this is a comparison between Version 2 by Bruce Ren and Version 1 by Charlotte Höybye.

Prader-Labhart-Willi syndrome (PWS) is a rare genetic disorder characterized by intellectual disability, behavioural problems, hypothalamic dysfunction and specific dysmorphisms. Hypothalamic dysfunction causes dysregulation of energy balance and endocrine deficiencies, including hypogonadism. 

  • Prader-Willi syndrome
  • hypogonadism
  • child
  • adult
  • review
  • diagnosis
  • treatment
  • substitution
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References

  1. Prader, A.; Labhart, A.; Willi, H. Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach myotonieartigem Zustand im Neugeborenenalter. Schweiz. Med. Wochenschr. 1956, 86, 1260–1261.
  2. Holm, V.A.; Cassidy, S.B.; Butler, M.G.; Hanchett, J.M.; Greenswag, L.R.; Whitman, B.Y.; Greenberg, F. Prader-Willi Syndrome: Consensus Diagnostic Criteria. Pediatrics 1993, 91, 398–402.
  3. Goldstone, A.P.; Holland, A.J.; Hauffa, B.P.; Hokken-Koelega, A.C.; Tauber, M.; Speakers Contributors at the Second Expert Meeting of the Comprehensive Care of Patients with PWS. Recommendations for the Diagnosis and Management of Prader-Willi Syndrome. J. Clin. Endocrinol. Metab. 2008, 93, 4183–4197.
  4. Eiholzer, U.; l’Allemand, D. Growth Hormone Normalises Height, Prediction of Final Height and Hand Length in Children with Prader-Willi Syndrome after 4 Years of Therapy. Horm. Res. 2000, 53, 185–192.
  5. Eiholzer, U.; Nordmann, Y.; l’Allemand, D.; Schlumpf, M.; Schmid, S.; Kromeyer-Hauschild, K. Improving Body Composition and Physical Activity in Prader-Willi Syndrome. J. Pediatr. 2003, 142, 73–78.
  6. Hirsch, H.J.; Eldar-Geva, T.; Bennaroch, F.; Pollak, Y.; Gross-Tsur, V. Sexual Dichotomy of Gonadal Function in Prader-Willi Syndrome from Early Infancy through the Fourth Decade. Hum. Reprod. 2015, 30, 2587–2596.
  7. 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.
  8. Siemensma, E.P.; de Lind van Wijngaarden, R.F.; Otten, B.J.; de Jong, F.H.; Hokken-Koelega, A.C. Testicular Failure in Boys with Prader-Willi Syndrome: Longitudinal Studies of Reproductive Hormones. J. Clin. Endocrinol. Metab. 2012, 97, E452–E459.
  9. Cassidy, S.B. Prader-Willi Syndrome. Characteristics, Management, and Etiology. Ala. J. Med. Sci. 1987, 24, 169–175.
  10. Pacilli, M.; Heloury, Y.; O’Brien, M.; Lionti, T.; Rowell, M.; Hutson, J. Orchidopexy in Children with Prader-Willi Syndrome: Results of a Long-Term Follow-Up Study. J. Pediatr. Urol. 2018, 14, 63 e61–63 e66.
  11. Gillessen-Kaesbach, G.; Robinson, W.; Lohmann, D.; Kaya-Westerloh, S.; Passarge, E.; Horsthemke, B. Genotype-Phenotype Correlation in a Series of 167 Deletion and Non-Deletion Patients with Prader-Willi Syndrome. Hum. Genet. 1995, 96, 638–643.
  12. Siemensma, E.P.; van Alfen-van der Velden, A.A.; Otten, B.J.; Laven, J.S.; Hokken-Koelega, A.C. Ovarian Function and Reproductive Hormone Levels in Girls with Prader-Willi Syndrome: A Longitudinal Study. J. Clin. Endocrinol. Metab. 2012, 97, E1766–E1773.
  13. Diene, G.; Mimoun, E.; Feigerlova, E.; Caula, S.; Molinas, C.; Grandjean, H.; Tauber, M.; French Reference Centre for, P.W.S. Endocrine Disorders in Children with Prader-Willi Syndrome—Data from 142 Children of the French Database. Horm. Res. Paediatr. 2010, 74, 121–128.
  14. Crino, A.; Di Giorgio, G.; Schiaffini, R.; Fierabracci, A.; Spera, S.; Maggioni, A.; Gattinara, G.C. Central Precocious Puberty and Growth Hormone Deficiency in a Boy with Prader-Willi Syndrome. Eur. J. Pediatr. 2008, 167, 1455–1458.
  15. Schulze, A.; Mogensen, H.; Hamborg-Petersen, B.; Graem, N.; Ostergaard, J.R.; Brondum-Nielsen, K. Fertility in Prader-Willi Syndrome: A Case Report with Angelman Syndrome in the Offspring. Acta Paediatr. 2001, 90, 455–459.
  16. Fillion, M.; Deal, C.L.; Van Vliet, G. Normal Minipuberty of Infancy in Boys with Prader-Willi Syndrome. J. Pediatr. 2006, 149, 874–876.
  17. Gross-Tsur, V.; Hirsch, H.J.; Benarroch, F.; Eldar-Geva, T. The FSH-Inhibin Axis in Prader-Willi Syndrome: Heterogeneity of Gonadal Dysfunction. Reprod. Biol. Endocrinol. 2012, 10, 39.
  18. Hirsch, H.J.; 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.
  19. Eldar-Geva, T.; Hirsch, H.J.; Benarroch, F.; Rubinstein, O.; Gross-Tsur, V. Hypogonadism in Females with Prader-Willi Syndrome from Infancy to Adulthood: Variable Combinations of a Primary Gonadal Defect and Hypothalamic Dysfunction. Eur. J. Endocrinol. 2010, 162, 377–384.
  20. Farber, C.; Gross, S.; Neesen, J.; Buiting, K.; Horsthemke, B. Identification of a Testis-Specific Gene (C15orf2) in the Prader-Willi Syndrome Region on Chromosome 15. Genomics 2000, 65, 174–183.
  21. Zachmann, M. The Evaluation of Testicular Endocrine Function Before and in Puberty. Effect of a Single Dose of Human Chorionic Gonadotropin on Urinary Steroid Excretion Under Normal and Pathological Conditions. Acta Endocrinol. Suppl. (Copenh.) 1972, 164, 3–94.
  22. Kulin, H.E.; Samojlik, E.; Santen, R.; Santner, S. The Effect of Growth Hormone on the Leydig Cell Response to Chorionic Gonadotrophin in Boys with Hypopituitarism. Clin. Endocrinol. 1981, 15, 463–472.
  23. Eiholzer, U.; Grieser, J.; Schlumpf, M.; l’Allemand, D. Clinical Effects of Treatment for Hypogonadism in Male Adolescents with Prader-Labhart-Willi Syndrome. Horm. Res. 2007, 68, 178–184.
  24. Muscatelli, F.; Abrous, D.N.; Massacrier, A.; Boccaccio, I.; Le Moal, M.; Cau, P.; Cremer, H. Disruption of the Mouse Necdin Gene Results in Hypothalamic and Behavioral Alterations Reminiscent of the Human Prader-Willi Syndrome. Hum. Mol. Genet. 2000, 9, 3101–3110.
  25. Mercer, R.E.; Wevrick, R. Loss of Magel2, a Candidate Gene for Features of Prader-Willi Syndrome, Impairs Reproductive Function in Mice. PLoS ONE 2009, 4, e4291.
  26. Abreu, A.P.; Macedo, D.B.; Brito, V.N.; Kaiser, U.B.; Latronico, A.C. A New Pathway in the Control of the Initiation of Puberty: The MKRN3 Gene. J. Mol. Endocrinol. 2015, 54, R131–R139.
  27. Vogels, A.; Moerman, P.; Frijns, J.P.; Bogaert, G.A. Testicular Histology in Boys with Prader-Willi Syndrome: Fertile or Infertile? J. Urol. 2008, 180, 1800–1804.
  28. Katcher, M.L.; Bargman, G.J.; Gilbert, E.F.; Opitz, J.M. Absence of Spermatogonia in the Prader-Willi Syndrome. Eur. J. Pediatr. 1977, 124, 257–260.
  29. Matsuyama, S.; Matsui, F.; Matsuoka, K.; Iijima, M.; Takeuchi, M.; Ida, S.; Matsumoto, F.; Mizokami, A. Gonadal Function and Testicular Histology in Males with Prader-Willi Syndrome. Endocrinol. Diabetes Metab. 2019, 2, e00049.
  30. Hockey, A.; Byrne, G.; Cohen, A. Precocious Puberty in the Male Offspring of a Mother and Daughter with the Prader-Willi Syndrome. Am. J. Med. Genet. 1987, 26, 749.
  31. Stancampiano, M.R.; Lucas-Herald, A.K.; Russo, G.; Rogol, A.D.; Ahmed, S.F. Testosterone Therapy in Adolescent Boys: The Need for a Structured Approach. Horm. Res. Paediatr. 2019, 92, 215–228.
  32. Mason, K.A.; Schoelwer, M.J.; Rogol, A.D. Androgens During Infancy, Childhood, and Adolescence: Physiology and Use in Clinical Practice. Endocr. Rev. 2020, 41.
  33. Aynsley-Green, A.; Zachmann, M.; Illig, R.; Rampini, S.; Prader, A. Congenital Bilateral Anorchia in Childhood: A Clinical, Endocrine and Therapeutic Evaluation of Twenty-One Cases. Clin. Endocrinol. (Oxf.) 1976, 5, 381–391.
  34. Boehm, U.; Bouloux, P.M.; Dattani, M.T.; de Roux, N.; Dode, C.; Dunkel, L.; Dwyer, A.A.; Giacobini, P.; Hardelin, J.P.; Juul, A.; et al. Expert Consensus Document: European Consensus Statement on Congenital Hypogonadotropic Hypogonadism—Pathogenesis, Diagnosis and Treatment. Nat. Rev. Endocrinol. 2015, 11, 547–564.
  35. Young, J.; Xu, C.; Papadakis, G.E.; Acierno, J.S.; Maione, L.; Hietamaki, J.; Raivio, T.; Pitteloud, N. Clinical Management of Congenital Hypogonadotropic Hypogonadism. Endocr. Rev. 2019, 40, 669–710.
  36. Lapauw, B.; Kaufman, J.M. Management of Endocrine Disease: Rationale and Current Evidence for Testosterone Therapy in the Management of Obesity and its Complications. Eur. J. Endocrinol. 2020, 183, R167–R183.
  37. Ross, J.L.; Quigley, C.A.; Cao, D.; Feuillan, P.; Kowal, K.; Chipman, J.J.; Cutler, G.B., Jr. Growth Hormone Plus Childhood Low-Dose Estrogen in Turner’s Syndrome. N. Engl. J. Med. 2011, 364, 1230–1242.
  38. Bondy, C.A.; Turner Syndrome Study Group. Care of Girls and Women with Turner Syndrome: A Guideline of the Turner Syndrome Study Group. J. Clin. Endocrinol. Metab. 2007, 92, 10–25.
  39. Kido, Y.; Sakazume, S.; Abe, Y.; Oto, Y.; Itabashi, H.; Shiraishi, M.; Yoshino, A.; Tanaka, Y.; Obata, K.; Murakami, N.; et al. Testosterone Replacement Therapy to Improve Secondary Sexual Characteristics and Body Composition Without Adverse Behavioral Problems in Adult Male Patients with Prader-Willi Syndrome: An Observational Study. Am. J. Med. Genet. A 2013, 161A, 2167–2173.
  40. Heksch, R.; Kamboj, M.; Anglin, K.; Obrynba, K. Review of Prader-Willi Syndrome: The Endocrine Approach. Transl. Pediatr. 2017, 6, 274–285.
  41. Bakker, N.E.; Kuppens, R.J.; Siemensma, E.P.; Tummers-de Lind van Wijngaarden, R.F.; Festen, D.A.; Bindels-de Heus, G.C.; Bocca, G.; Haring, D.A.; Hoorweg-Nijman, J.J.; Houdijk, E.C.; et al. Bone Mineral Density in Children and Adolescents with Prader-Willi Syndrome: A Longitudinal Study During Puberty and 9 Years of Growth Hormone Treatment. J. Clin. Endocrinol. Metab. 2015, 100, 1609–1618.
  42. Bakker, N.E.; Kuppens, R.J.; Siemensma, E.P.; Tummers-de Lind van Wijngaarden, R.F.; Festen, D.A.; Bindels-de Heus, G.C.; Bocca, G.; Haring, D.A.; Hoorweg-Nijman, J.J.; Houdijk, E.C.; et al. Eight Years of Growth Hormone Treatment in Children with Prader-Willi Syndrome: Maintaining the Positive Effects. J. Clin. Endocrinol. Metab. 2013, 98, 4013–4022.
  43. Carrel, A.L.; Myers, S.E.; Whitman, B.Y.; Eickhoff, J.; Allen, D.B. Long-Term Growth Hormone Therapy Changes the Natural History of Body Composition and Motor Function in Children with Prader-Willi Syndrome. J. Clin. Endocrinol. Metab. 2010, 95, 1131–1136.
  44. Donze, S.H.; Kuppens, R.J.; Bakker, N.E.; van Alfen-van der Velden, J.; Hokken-Koelega, A.C.S. Bone Mineral Density in Young Adults with Prader-Willi Syndrome: A Randomized, Placebo-Controlled, Crossover GH trial. Clin. Endocrinol. (Oxf.) 2018, 88, 806–812.
  45. Butler, J.V.; Whittington, J.E.; Holland, A.J.; Boer, H.; Clarke, D.; Webb, T. Prevalence of, and Risk Factors for, Physical Ill-Health in People with Prader-Willi Syndrome: A Population-Based Study. Dev. Med. Child. Neurol. 2002, 44, 248–255.
  46. Kroonen, L.T.; Herman, M.; Pizzutillo, P.D.; Macewen, G.D. Prader-Willi Syndrome: Clinical Concerns for the Orthopaedic Surgeon. J. Pediatr. Orthop. 2006, 26, 673–679.
  47. Golds, G.; Houdek, D.; Arnason, T. Male Hypogonadism and Osteoporosis: The Effects, Clinical Consequences, and Treatment of Testosterone Deficiency in Bone Health. Int. J. Endocrinol. 2017, 2017, 4602129.
  48. Butler, M.G.; Oyetunji, A.; Manzardo, A.M. Age Distribution, Comorbidities and Risk Factors for Thrombosis in Prader-Willi Syndrome. Genes 2020, 11, 67.
  49. Hartmann, B.W.; Huber, J.C. The Mythology of Hormone Replacement Therapy. Br. J. Obstet. Gynaecol. 1997, 104, 163–168.
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