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MeSH Review

Gonadal Dysgenesis, Mixed

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Disease relevance of Gonadal Dysgenesis, Mixed


High impact information on Gonadal Dysgenesis, Mixed


Chemical compound and disease context of Gonadal Dysgenesis, Mixed


Anatomical context of Gonadal Dysgenesis, Mixed

  • The correlation between the degree of Müllerian duct retention and scrotal position in mixed gonadal dysgenesis further strengthens the hypothesis that the first stage of testicular descent is controlled by MIS [8].

Gene context of Gonadal Dysgenesis, Mixed


  1. 45,X/46,XY mosaicism: report of 27 cases. Telvi, L., Lebbar, A., Del Pino, O., Barbet, J.P., Chaussain, J.L. Pediatrics (1999) [Pubmed]
  2. Discordant phenotypes and 45,X/46,X,idic(Y). Kelly, T.E., Franko, J.B., Rogol, A., Golden, W.L. J. Med. Genet. (1998) [Pubmed]
  3. X/XYq - mosaicism and mixed gonadal dysgenesis. Yunis, E., Silva, R., Ramirez, E., Nossa, M.A. J. Med. Genet. (1977) [Pubmed]
  4. A 7-year experience of genetic males with severe phallic inadequacy assigned female. Reiner, W.G., Kropp, B.P. J. Urol. (2004) [Pubmed]
  5. Partial androgen receptor deficiency and mixed gonadal dysgenesis in Drash syndrome. Turleau, C., Niaudet, P., Sultan, C., Rault, G., Mahfoud, A., Nihoul-Fekete, C., Iris, L., de Grouchy, J. Hum. Genet. (1987) [Pubmed]
  6. Persistence of Müllerian ducts in male pseudohermaphroditism, and its relationship to cryptorchidism. Josso, N., Fekete, C., Cachin, O., Nezelof, C., Rappaport, R. Clin. Endocrinol. (Oxf) (1983) [Pubmed]
  7. Endocrine studies in male pseudohermaphroditism in childhood and adolescence. Savage, M.O., Chaussain, J.L., Evain, D., Roger, M., Canlorbe, P., Job, J.C. Clin. Endocrinol. (Oxf) (1978) [Pubmed]
  8. Genital anomalies in human and animal models reveal the mechanisms and hormones governing testicular descent. Clarnette, T.D., Sugita, Y., Hutson, J.M. British journal of urology. (1997) [Pubmed]
  9. Dicentric Y chromosome in mixed gonadal dysgenesis. Hayek, A., Yunis, E. J. Med. Genet. (1975) [Pubmed]
  10. Molecular analysis of SRY gene in patients with mixed gonadal dysgenesis. Alvarez-Nava, F., Soto, M., Borjas, L., Ortiz, R., Rojas, A., Martínez, S., Revol, A., Barrera, H., Alvarez, Z. Ann. Genet. (2001) [Pubmed]
  11. Gender identity reversal in an adolescent with mixed gonadal dysgenesis. Birnbacher, R., Marberger, M., Weissenbacher, G., Schober, E., Frisch, H. Journal of pediatric endocrinology & metabolism : JPEM. (1999) [Pubmed]
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