European Journal of Pediatrics

, Volume 124, Issue 4, pp 257–260 | Cite as

Absence of spermatogonia in the Prader-Willi syndrome

  • Murray L. Katcher
  • Gerald J. Bargman
  • Enid F. Gilbert
  • John M. Opitz


Bilateral testicular biopsies in an 8 1/2 year old boy with the Prader-Willi syndrome showed total absence of spermatogonia. Similar findings in postpubertal cases (Wannarachue et al., 1975) suggest that testicular dysplasia is one of the reasons for hypogonadism in males with the Prader-Willi syndrome.

Key words

Prader-Willi syndrome Absent spermatogonia Testicular dysplasia Hypogonadism 


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. del Castillo, E. B., Trabucco, A., de la Balze, F. A.: Syndrome produced by absence of the germinal epithelium without impairment of the Sertoli or Leydig cells. J. Clin. Endocr. 7, 493–502 (1947)Google Scholar
  2. Gabilan, J. C., Royer, P.: Le syndrome de Prader, Labhart et Willi (étude de onze observations). Arch. franç. de Pédiatrie 25, 121–149 (1968)Google Scholar
  3. Hall, B. D., Smith, D. W.: Prader-Willi syndrome. J. Pediatr. 81, 286–293 (1972)Google Scholar
  4. Hamilton, C., Scully, R. E., Kliman, B.: Hypogonadotropinism in the Prader-Willi syndrome. Am. J. Med. 52, 322–329 (1972)Google Scholar
  5. Laurance, B. M.: Hypotonia, mental retardation, obesity and cryptorchidism associated with dwarfism and diabetes in children. Arch. Dis. Childh. 42, 126–139 (1967)Google Scholar
  6. Murken, J. D., Vogt, D., Hehenberger, I.: Blutgerinnungsstörung (Faktor IX-Mangel) beim Prader-Willi Syndrom. Arch. Kinderheilk. 174, 61–66 (1966)Google Scholar
  7. Prader, A., Labhart, A., Willi, H.: Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach myatonieartigem Zustand im Neugeborenenalter. Schweiz. Med. Wochenschr. 86, 1260–1261 (Abstract) (1956)Google Scholar
  8. Prader, A., Willi, H.: Das Syndrom von Imbezillität, Adipositas, Muskelhypotonie, Hypogenitalismus, Hypogonadismus, und Diabetes mellitus mit „Myatonie”-Anamnese. Verh. 2. int. Kongr. Psych. Entw.-Stör. Kindes-Alt. Wien 1, 353–357 (1963)Google Scholar
  9. Sniffen, R. C., Howard, R. P., Simmons, F. A.: The testis: III. Absence of germ cells; sclerosing tubular degeneration; “male climacteric”. Arch. Pathol. 51, 293–311 (1951)Google Scholar
  10. Tolis, G., Lewis, W., Verdy, M., Friesen, H. G., Solomon, S., Pagalis, G., Pavlatos, F., Fessas, P. H., Rochefort, J. G.: Anterior pituitary function in the Prader-Labhart-Willi (PLW) syndrome. J. Clin. Endocrinol. Metab. 39, 1061–1066 (1974)Google Scholar
  11. Wannarachue, N., Ruvalcaba, R. H. A., Kelly, V. C.: Hypogonadism in Prader-Willi syndrome. Am. J. Ment. Defic. 79, 592–603 (1975)Google Scholar
  12. Wong, T.-W., Straus, F. H., Warner, N. E.: Testicular biopsy in the study of male infertility. Arch. Pathol. 95, 151–159 (1973)Google Scholar
  13. Zárate, A., Garrido, J., Canales, E. S., Soria, J., Schally, A. V.: Disparity in the negative gonadal feedback control for LH and FSH secretion in cases of germinal aplasia or Sertoli-cell-only syndrome. J. Clin. Endocrinol. Metab. 38, 1125–1127 (1974)Google Scholar
  14. Zellweger, H., Schneider, H. J.: Syndrome of hypotonia-hypomentia-hypogonadism-obesity (HHHO) or Prader-Willi syndrome. Am. J. Dis. Child. 115, 588–598 (1968)Google Scholar

Copyright information

© Springer-Verlag 1977

Authors and Affiliations

  • Murray L. Katcher
    • 1
  • Gerald J. Bargman
    • 1
  • Enid F. Gilbert
    • 1
    • 2
  • John M. Opitz
    • 1
    • 3
  1. 1.Department of PediatricsUniversity of Wisconsin Center for Health Sciences and Medical SchoolMadisonUSA
  2. 2.Department of PathologyUniversity of Wisconsin Center for Health Sciences and Medical SchoolMadisonUSA
  3. 3.Wisconsin Clinical Genetics Center of the Department of Medical GeneticsUniversity of Wisconsin Center for Health Sciences and Medical SchoolMadisonUSA

Personalised recommendations