Toscano-Flores JJ, Padilla-Gutiérrez J, Becerra-Solano L, Díaz-Rodríguez M, Bañuelos-Robles O, Rivas-Solís F, Ramírez-Dueñas ML

Language: Spanish
References: 25
Page: 539-542
PDF size: 234.49 Kb.

ABSTRACT

True hermaphroditism is a disorder of sexual differentiation characterized by the presence of ovarian and testicular tissue in a person ,and it determines an increased risk for developing gonad cancer. Diagnostic and medical-surgical procedures with opportunity and successful in true hermaphroditism, facilitate the prevention of gonadoblastoma, besides contributing to solving social problem for assignation of sex. In this paper we present two cases with true hermaphroditism that had cytogenetic analysis and search for sequences of chromosome Y. Both patients, had a karyotype 46,XX and showed positive polymorphic regions in chromosome Y. The molecular detection of the Y chromosome is a non-invasive and fast procedure that allows explore cell lines by cytogenetic analysis. We conclude that this procedure is useful as it streamlines the management of disorders of sexual differentiation to identify individuals with higher risk to gonad cancer.

REFERENCES

1. Johns Hopkins University. Online Mendelian inheritance in man, OMIM (TM). Baltimore, MD. MIM Number: #235600. Disponible en http://www.ncbi.nlm.nih.gov/omim/

2. Aparicio-Rodrigo M, Melgosa-Hijosa E, Bernal- Vaño M, Martín-Serrano N, Gracia-Bouthelier R. Hermafroditismo verdadero familiar: aportación de un nuevo caso y revisión de la literatura. An Esp Pediatr 1996;45:93-96.

3. Zaparackaite I, Barauskas V. Congenital genital anomalies. Aspects of diagnostics and treatment. Medicina (Kaunas) 2003;39:105-113.

4. Gillenwater JY, Grayhack JT, Howards SS, Mitchell ME. Adult and pediatric urology. Philadelphia, USA: Lippincott Williams & Wilkins; 2002. p. 2549-2550.

5. Queipo G, Zenteno JC, Pena R, Nieto K, Radillo A, Dorantes LM, et al. Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases. Hum Genet 2002;111:278-283.

6. McElreavey K, Fellous M. Sex determination and the Y cromosome. Am J Med Genet 1999;89:176-185.

7. Rajender S, Rajani V, Gupta NJ, Chakravarty B, Singh L, Thangaraj K. SRY-Negartve 46,XX male with normal genitals, complete masculinization and infertility. Mol Hum Reprod 2006;12:341-346.

8. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.

9. Rangel-Villalobos H, Jaloma-Cruz AR, Sandoval- Ramírez L, Velarde-Félix JS, Gallegos-Arreola MP, Figuera LE. Y-chromosome haplotypes for six short tandem repeats (STRs) in a Mexican population. Arch Med Res 2001;32:232-237. 9. Redd AJ, Agellon AB, Kearney VA, Contreras VA, Karafet T, Park H, et al. Forensic value of 14 novel STRs on the human Y chromosome. Forensic Sci Int 2002;130:97-111.

10. Ramírez-Velasco JA, Morales-Juvera E, De la Cruz- Yáñez H, Díaz-Pardo M, Quiroz-Guerrero J, Montalvo López H. El niño con genitales ambiguos. Tratamiento quirúrgico. Rev Med IMSS 2002;40:15-17.

11. Chertin B, Koulikov D, Alberton J, Hadas-Halpern I, Reissman P, Farkas A. The use of laparoscopy in intersex patients. Pediatr Surg Int 2006;2:405-408.

12. Dénes FT, Cocuzza MA, Schneider-Monteiro ED, Silva FA, Costa EM, Mendonca BB, et al. The laparoscopic management of intersex patients: the preferred approach. BJU Int 2005;95:863-867.

13. Johns Hopkins University. Online Mendelian inheritance in man, OMIM (TM). Baltimore, MD. MIM Number: #235600. Disponible en http://www.ncbi.nlm.nih.gov/omim/

14. Aparicio-Rodrigo M, Melgosa-Hijosa E, Bernal-Vaño M, Martín-Serrano N, Gracia-Bouthelier R. Hermafroditismo verdadero familiar: aportación de un nuevo caso y revisión de la literatura. An Esp Pediatr 1996;45:93-96.

15. Zaparackaite I, Barauskas V. Congenital genital anomalies. Aspects of diagnostics and treatment. Medicina (Kaunas) 2003;39:105-113.

16. Gillenwater JY, Grayhack JT, Howards SS, Mitchell ME. Adult and pediatric urology. Philadelphia, USA: Lippincott Williams & Wilkins; 2002. p. 2549-2550.

17. Queipo G, Zenteno JC, Pena R, Nieto K, Radillo A, Dorantes LM, et al. Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases. Hum Genet 2002;111:278-283.

18. McElreavey K, Fellous M. Sex determination and the Y cromosome. Am J Med Genet 1999;89:176-185.

19. Rajender S, Rajani V, Gupta NJ, Chakravarty B, Singh L, Thangaraj K. SRY-Negartve 46,XX male with normal genitals, complete masculinization and infertility. Mol Hum Reprod 2006;12:341-346.

20. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.

21. Rangel-Villalobos H, Jaloma-Cruz AR, Sandoval-Ramírez L, Velarde-Félix JS, Gallegos-Arreola MP, Figuera LE. Y-chromosome haplotypes for six short tandem repeats (STRs) in a Mexican population. Arch Med Res 2001;32:232-237.

22. Redd AJ, Agellon AB, Kearney VA, Contreras VA, Karafet T, Park H, et al. Forensic value of 14 novel STRs on the human Y chromosome. Forensic Sci Int 2002;130:97-111.

23. Ramírez-Velasco JA, Morales-Juvera E, De la Cruz-Yáñez H, Díaz-Pardo M, Quiroz-Guerrero J, Montalvo López H. El niño con genitales ambiguos. Tratamiento quirúrgico. Rev Med IMSS 2002;40:15-17.

24. Chertin B, Koulikov D, Alberton J, Hadas-Halpern I, Reissman P, Farkas A. The use of laparoscopy in intersex patients. Pediatr Surg Int 2006;2:405-408.

25. Dénes FT, Cocuzza MA, Schneider-Monteiro ED, Silva FA, Costa EM, Mendonca BB, et al. The laparoscopic management of intersex patients: the preferred approach. BJU Int 2005;95:863-867.