Combined Leydig cell and sertoli cell dysfunction in 46,XX males lacking the sex determining region Y gene

B. Turner, P. Y. Fechner, John Fuqua, S. M. Marcantonio, E. J. Perlman, J. S. Vordermark, G. D. Berkovitz

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

We have evaluated 3 individuals with a rare form of 46,XX sex reversal. All of them had ambiguous external genitalia and mixed wolffian and mullerian structures, indicating both Leydig cell and Sertoli cell dysfunction, similar to that of patients with true hermaphroditism. However, gonadal tissue was not ovotesticular but testicular with varying degrees of dysgenesis. SRY sequences were absent in genomic DNA from peripheral leukocytes in all 3 subjects. Y centromere sequences were also absent, indicating that testis development did not occur because of a low level mosaicism of Y bearing cells. The subjects in this report demonstrate that there is a continuum in the extent of testis determination in SRY-negative 46,XX sex reversal, ranging from nearly normal to minimal testicular development.

Original languageEnglish (US)
Pages (from-to)440-443
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume57
Issue number3
DOIs
StatePublished - 1995
Externally publishedYes

Fingerprint

46, XX Testicular Disorders of Sex Development
sry Genes
Leydig Cells
Sertoli Cells
Testis
Ovotesticular Disorders of Sex Development
Disorders of Sex Development
Mosaicism
Centromere
Leukocytes
DNA

Keywords

  • hermaphroditism
  • sex differentiation
  • testis determination

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Turner, B., Fechner, P. Y., Fuqua, J., Marcantonio, S. M., Perlman, E. J., Vordermark, J. S., & Berkovitz, G. D. (1995). Combined Leydig cell and sertoli cell dysfunction in 46,XX males lacking the sex determining region Y gene. American Journal of Medical Genetics, 57(3), 440-443. https://doi.org/10.1002/ajmg.1320570315

Combined Leydig cell and sertoli cell dysfunction in 46,XX males lacking the sex determining region Y gene. / Turner, B.; Fechner, P. Y.; Fuqua, John; Marcantonio, S. M.; Perlman, E. J.; Vordermark, J. S.; Berkovitz, G. D.

In: American Journal of Medical Genetics, Vol. 57, No. 3, 1995, p. 440-443.

Research output: Contribution to journalArticle

Turner, B. ; Fechner, P. Y. ; Fuqua, John ; Marcantonio, S. M. ; Perlman, E. J. ; Vordermark, J. S. ; Berkovitz, G. D. / Combined Leydig cell and sertoli cell dysfunction in 46,XX males lacking the sex determining region Y gene. In: American Journal of Medical Genetics. 1995 ; Vol. 57, No. 3. pp. 440-443.
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