Hypogonadism and Osteoporosis

  • Karen Rubin
  • Suzanne B. Cassidy


Hypogonadism has been a recognized major feature of Prader-Willi syndrome (PWS) since it was first described (Prader, Labhart, & Willi, 1956). It has been shown to be hypogonadotropic in origin, and is manifested initially by small or poorly developed external genitalia and later by deficiencies of pubertal development, short stature, and infertility (Table 3.1). Osteoporosis is a recently described finding in PWS that is likely to be an additional consequence of hypogonadism, at least in part. There is presently no standard approach to the management of the hypogonadism, although recent reports suggest that treatment may have beneficial results.


Short Stature Pubertal Development Undescended Testicle Testosterone Therapy Pubertal Growth Spurt 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Babata, A., Chu, F.C.H., Hilaris, B.S., Willet, F.W., & Golbey, R.B. (1982). Testicular cancer in cryptorchids. Cancer, 49, 1023–1030.CrossRefGoogle Scholar
  2. Baran, D.T., Bergfeld, M.A., Teitelbaum, S.L., & Avioli, L.V. (1978). Effect of testosterone therapy on bone formation in an osteoporotic hypogonadal male. Calcified Tissue Research, 26, 103–106.PubMedCrossRefGoogle Scholar
  3. Bray, G.A., Dahms, W.T., Swerdloff, R.S., Fiser, R., Atkinson, R., & Carrell, R. (1983). The Prader-Willi syndrome: A study of 40 patients and a review of the literature. Medicine, 62, 59–80.PubMedCrossRefGoogle Scholar
  4. Cassidy, S.B., Rubin, K.G., & Mukaida, C. (1985). Osteoporosis in Prader-Willi syndrome. American Journal of Human Genetics, 37, A49.Google Scholar
  5. DeLignieres, B., Basdeoant, A., Thomas G., Thalabard, J., Mercier-Bodard, C., Conard, J., Guyene, T., Mairon, N., Corvol, P., Guy-Grand, B., Mauvais-Janis, P., & Sitruk-Ware, R. (1986). Biological effects of estradiol-17β in postmenopausal women: Oral versus percutaneous administration. Journal of Clinical Endocrinology and Metabolism, 62, 536–541.CrossRefGoogle Scholar
  6. Garty, B., Shuper, A., Mimouni, M., Varsano, I., & Kauli R. (1982). Primary gonadal failure and precocious adrenarche in a boy with Prader-Labhart-Willi syndrome. European Journal Pediatrics, 139, 201–203.CrossRefGoogle Scholar
  7. Guthrie, R.D., Smith, D.W., & Graham, C.B. (1973). Testosterone treatment for micropenis during early childhood. Journal of Pediatrics, 83, 247–252.PubMedCrossRefGoogle Scholar
  8. Hadziselimovic, F. (1981). Pathogenesis of cryptorchidism. In S.T. Kogan & E.S.E. Hafey (Eds.), Pediatric andrology (vol. 7, pp. 147–162). The Hague: Martinus Nijhoff.CrossRefGoogle Scholar
  9. Hall, B.D., & Smith, D.W. (1972). Prader-Willi syndrome: A resume of 32 cases including an instance of affected first cousins, one of whom is of normal stature and intelligence. Journal of Pediatrics, 81, 286–293.PubMedCrossRefGoogle Scholar
  10. Hamilton, C.R., Scully, R.E., & Kliman, B. (1972). Hypogonadotropinism in Prader-Willi syndrome. American Journal of Medicine, 52, 322–329.PubMedCrossRefGoogle Scholar
  11. Hittner, H.M., King, R.A., Riccardi, W.M., Ledbetter, D.H., Borda, R.P., Ferrell, R.E., & Kretzer, F.L. (1982). Oculocutaneous albinoidism as a manifestation of reduced neural crest derivatives in the Prader-Willi syndrome. American Journal of Opthalmology, 94, 328–337.Google Scholar
  12. Holm, V.A. (1981). The diagnosis of Prader-Willi syndrome. In V.A. Holm, S.J. Sulzbacher, & P.L. Pipes (Eds.), The Prader Willi syndrome (chpt. 3). Baltimore: University Park Press.Google Scholar
  13. Holm, V.A., & Laurnen, E.L. (1981). Prader-Willi syndrome and scoliosis. Developmental Medicine and Child Neurology, 23, 192–201.PubMedCrossRefGoogle Scholar
  14. Ichiba, Y., & Gardner, L.I. (1975). Metabolic and genetic syndromes of overgrowth. In L.I. Gardner (Ed.), Endocrine and genetic diseases of childhood and adolescence (2nd ed., pp. 1324-1328). Philadelphia: W.B. Saunders.Google Scholar
  15. Jeffcoate, W.J., Laurance, B.M., Edwards, C.R.W., & Besser G.M. (1980). Endocrine function in the Prader-Willi syndrome. Clinical Endocrinology, 12, 81–89.PubMedCrossRefGoogle Scholar
  16. Kastrup, K.W. (1985). Effect of estradiol treatment monitored by serum concentration on growth and development in Turner syndrome. Pediatric Research, 19, 620.Google Scholar
  17. Leyendecker, G., Wildt, L., & Hansmann, M. (1980). Pregnancies following chronie intermittent (pulsatile) administration of Gn-RH by means of a portable pump (“Zyklomat”). A new approach to the treatment of infertility in hypothalamic amenorrhea. Journal of Clinical Endocrinology and Metabolism, 51, 1214–1216.PubMedCrossRefGoogle Scholar
  18. Linde, R., McNeil, L., & Rabin, D. (1982). Induction of menarche by clomiphene citrate in a 17-year-old girl with the Prader-Labhart-Willi syndrome. Fertility and Sterility, 37, 118–120.PubMedGoogle Scholar
  19. Lindsay, R., Hart, D.M., & Aitken, J.M., McDonald, E.B., Anderson, J.B., & Clark, A.C. (1976). Long-term prevention of post-menopausal osteoporosis by estrogen. Lancet, 1, 1038.PubMedCrossRefGoogle Scholar
  20. Prader, A., Labhart, A., & Willi, H. (1956). Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach Myotonicartigem Zustand in Neugeborenalter. Schweizerische Medizinische Wochenschrift, 86, 1260–1261.Google Scholar
  21. Rajfer, J., Handelsman, D.J., Swerdloff, R.S., Hurwitz, R., Kapan, H., Vander-gast, T., & Ehrlich, R.M. (1986). Hormonal therapy of cryptorchidism. New England Journal of Medicine, 314, 466–470.PubMedCrossRefGoogle Scholar
  22. Rudd, B.T., Rayner, P.H.W., Smith, M.R., Holder, G., Jivani, S.K.M., Theodoridis, C.G. (1973). Effect of human chorionic gonadotropin on plasma and urine testosterone in boys with delayed puberty. Archives of Disease in Childhood, 48, 590–595.PubMedCrossRefGoogle Scholar
  23. Tolis, G., Lewis, W., Verdy, M., Friesen H.G., Solowon, S., Pagalis, G., Pavlatos F., Fessas, P.H., & Rochefort, J.G. (1974). Anterior pituitary function in the Prader-Labhart Willi syndrome. Journal of Clinical Endocrinology and Metabolism, 39, 1061–1066.PubMedCrossRefGoogle Scholar
  24. Tze, W.J., Dunn, H.G., & Rothstein, R.L. (1981). Endocrine profiles and metabolic aspects of Prader-Willi syndrome. In V.A. Holm, S. Sulzbacher, & P.L. Pipes (Eds.), The Prader-Willi syndrome (chap. 22). Baltimore: University Park Press.Google Scholar
  25. Uehling, D. (1980). Cryptorchidism in the Prader-Willi syndrome. Journal of Urology, 124, 103–104.PubMedGoogle Scholar
  26. Winter, J.S.D., & Faiman, C. (1972). Pituitary gonadal relations in male children and adolescents. Pediatric Research, 6, 126.PubMedCrossRefGoogle Scholar

Copyright information

© The Prader-Willi Syndrome Association 1988

Authors and Affiliations

  • Karen Rubin
  • Suzanne B. Cassidy

There are no affiliations available

Personalised recommendations