Skip to main content
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1994 Jun;31(6):468–470. doi: 10.1136/jmg.31.6.468

Genital tract function in men with Noonan syndrome.

M M Elsawi 1, J P Pryor 1, G Klufio 1, C Barnes 1, M A Patton 1
PMCID: PMC1049925  PMID: 7915331

Abstract

In order to study the pattern of male fertility in Noonan syndrome, and its potential implications for genetic counselling, the genital tract function was studied in 11 adult males with Noonan syndrome. Bilateral testicular maldescent occurred in six. The mean testicular volume was 21 (SD 4) ml. The stretched flaccid penile length was 11.4 (SD 1.2) cm. Puberty was delayed in three. Four of the men had fathered children. The LH and testosterone levels were essentially normal in all men, while the FSH levels were grossly raised in the group with testicular maldescent, with the exception of one man. Semen samples were obtained from five men, and azoospermia or oligozoospermia was present in four of them. Sexual function is not affected in men with Noonan syndrome, but the onset of sexual activity was delayed in men with late onset of puberty. Bilateral testicular maldescent appears to be the main factor contributing to impairment of fertility in men with Noonan syndrome.

Full text

PDF
468

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Chilvers C., Dudley N. E., Gough M. H., Jackson M. B., Pike M. C. Undescended testis: the effect of treatment on subsequent risk of subfertility and malignancy. J Pediatr Surg. 1986 Aug;21(8):691–696. doi: 10.1016/s0022-3468(86)80389-x. [DOI] [PubMed] [Google Scholar]
  2. Ciovîrnache M., Florea I., Popa M., Ionescu V., Popescu H. Morphotypic aspects in the cryptorchidic child. Endocrinologie. 1987 Jan-Mar;25(1):45–53. [PubMed] [Google Scholar]
  3. Kauschansky A., Eilam N., Elian E. LH-RH and HCG studies in a Turner phenotype male (Noonan's syndrome). A case report. Helv Paediatr Acta. 1977 Sep;32(3):237–240. [PubMed] [Google Scholar]
  4. Kumanov P. Elevated basal levels and exaggerated responses to thyrotrophin-releasing hormone of prolactin and thyrotrophin in Turner-Noonan-Syndrome. Andrologia. 1985 Jul-Aug;17(4):395–399. doi: 10.1111/j.1439-0272.1985.tb01028.x. [DOI] [PubMed] [Google Scholar]
  5. Nistal M., Paniagua R., Pallardo L. F. Testicular biopsy and hormonal study in a male with Noonan's syndrome. Andrologia. 1983 Sep-Oct;15(5):415–425. doi: 10.1111/j.1439-0272.1983.tb00162.x. [DOI] [PubMed] [Google Scholar]
  6. Nora J. J., Nora A. H., Sinha A. K., Spangler R. D., Lubs H. A. The Ullrich-Noonan syndrome (Turner phenotype). Am J Dis Child. 1974 Jan;127(1):48–55. doi: 10.1001/archpedi.1974.02110200050007. [DOI] [PubMed] [Google Scholar]
  7. Okuyama A., Nishimoto N., Yoshioka T., Namiki M., Itatani H., Takaha M., Mizutani S., Aono T., Matsumoto K., Sonoda T. Gonadal findings in cryptorchid boys with Noonan's phenotype. Eur Urol. 1981;7(5):274–277. doi: 10.1159/000473239. [DOI] [PubMed] [Google Scholar]
  8. Ranke M. B., Heidemann P., Knupfer C., Enders H., Schmaltz A. A., Bierich J. R. Noonan syndrome: growth and clinical manifestations in 144 cases. Eur J Pediatr. 1988 Dec;148(3):220–227. doi: 10.1007/BF00441408. [DOI] [PubMed] [Google Scholar]
  9. Redman J. F. Noonan's syndrome and cryptorchidism. J Urol. 1973 May;109(5):909–911. doi: 10.1016/s0022-5347(17)60578-0. [DOI] [PubMed] [Google Scholar]
  10. Saez J. M., Morera A. M., Bertrand J. Testicular endocrine function in males with Nooman's syndrome. Lancet. 1969 Nov 15;2(7629):1078–1079. doi: 10.1016/s0140-6736(69)90685-0. [DOI] [PubMed] [Google Scholar]
  11. Sharland M., Burch M., McKenna W. M., Paton M. A. A clinical study of Noonan syndrome. Arch Dis Child. 1992 Feb;67(2):178–183. doi: 10.1136/adc.67.2.178. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Sharland M., Patton M. A., Talbot S., Chitolie A., Bevan D. H. Coagulation-factor deficiencies and abnormal bleeding in Noonan's syndrome. Lancet. 1992 Jan 4;339(8784):19–21. doi: 10.1016/0140-6736(92)90141-o. [DOI] [PubMed] [Google Scholar]
  13. Sinisi A. A., Criscuolo T., Maresca F., Quarto C., Di Finizio B., Bellastella A., Faggiano M. Endocrine profile in Noonan's syndrome. Minerva Endocrinol. 1987 Jan-Mar;12(1):13–17. [PubMed] [Google Scholar]
  14. Theintz G., Savage M. O. Growth and pubertal development in five boys with Noonan's syndrome. Arch Dis Child. 1982 Jan;57(1):13–17. [PMC free article] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES