Table of Contents Author Guidelines Submit a Manuscript
International Journal of Endocrinology
Volume 2014, Article ID 480724, 8 pages
http://dx.doi.org/10.1155/2014/480724
Clinical Study

Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males

1Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas (UNICAMP), Rua Tessália Vieira de Camargo 126, 13083-887 Campinas, SP, Brazil
2Interdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas, Campinas, SP, Brazil
3Center for Molecular Biology and Genetic Engineering (CBMEG), State University of Campinas, Campinas, SP, Brazil
4Department of Pediatrics, Faculty of Medical Sciences, State University of Campinas, Campinas, SP, Brazil

Received 22 July 2014; Revised 31 October 2014; Accepted 28 November 2014; Published 14 December 2014

Academic Editor: Muhammad Shahab

Copyright © 2014 Juliana Gabriel Ribeiro de Andrade et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. I. A. Hughes, C. Houk, S. F. Ahmed, and P. A. Lee, “Consensus statement on management of intersex disorders,” Archives of Disease in Childhood, vol. 91, no. 7, pp. 554–563, 2006. View at Publisher · View at Google Scholar · View at Scopus
  2. M. R. Scolfaro, I. A. Cardinalli, E. G. Stuchi-Perez et al., “Morphometry and histology of gonads from 13 children with dysgenetic male pseudohermaphroditism,” Archives of Pathology & Laboratory Medicine, vol. 125, no. 5, pp. 652–656, 2001. View at Google Scholar · View at Scopus
  3. M. Rohatgi, D. K. Gupta, P. S. N. Menon, I. C. Verma, and M. Mathur, “Mixed gonadal dysgenesis and dysgenetic male pseudohermaphroditism—a critical analysis,” The Indian Journal of Pediatrics, vol. 59, no. 4, pp. 487–500, 1992. View at Publisher · View at Google Scholar · View at Scopus
  4. H. E. Chemes, P. M. Muzulin, M. C. Venara et al., “Early manifestations of testicular dysgenesis in children: pathological phenotypes, karyotype correlations and precursor stages of tumour development,” APMIS, vol. 111, no. 1, pp. 12–24, 2003. View at Publisher · View at Google Scholar · View at Scopus
  5. M. R. Scolfaro, I. A. Cardinalli, and G. Guerra Jr., “Gonadal dysgenesis and morphometric histologic analysis,” Arquivos Brasileiros de Endocrinologia & Metabologia, vol. 47, no. 2, pp. 128–134, 2003. View at Google Scholar
  6. S. Uehara, M. Hashiyada, K. Sato, M. Nata, T. Funato, and K. Okamura, “Complete XY gonadal dysgenesis and aspects of the SRY genotype and gonadal tumor formation,” Journal of Human Genetics, vol. 47, no. 6, pp. 279–284, 2002. View at Publisher · View at Google Scholar · View at Scopus
  7. V. B. C. Rocha, G. Guerra-Júnior, A. P. Marques-de-Faria, M. P. de Mello, and A. T. Maciel-Guerra, “Complete gonadal dysgenesis in clinical practice: the 46,XY karyotype accounts for more than one third of cases,” Fertility and Sterility, vol. 96, no. 6, pp. 1431–1434, 2011. View at Publisher · View at Google Scholar · View at Scopus
  8. J. R. Hawkins, A. Taylor, P. N. Goodfellow, C. J. Migeon, K. D. Smith, and G. D. Berkovitz, “Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis,” The American Journal of Human Genetics, vol. 51, no. 5, pp. 979–984, 1992. View at Google Scholar · View at Scopus
  9. J. S. Fuqua, J. McLaughlin, E. J. Perlman, and G. D. Berkovitz, “Analysis of the SRY gene in gonadal tissue of subjects with 46,XY gonadal dysgenesis,” Journal of Clinical Endocrinology and Metabolism, vol. 82, no. 2, pp. 701–702, 1997. View at Publisher · View at Google Scholar · View at Scopus
  10. E. B. Tagliarini, J. G. Assumpção, M. R. Scolfaro et al., “Mutations in SRY and WT1 genes required for gonadal development are not responsible for XY partial gonadal dysgenesis,” Brazilian Journal of Medical and Biological Research, vol. 38, no. 1, pp. 17–25, 2005. View at Google Scholar · View at Scopus
  11. L. Lin and J. C. Achermann, “Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development,” Sexual Development, vol. 2, no. 4-5, pp. 200–209, 2008. View at Publisher · View at Google Scholar · View at Scopus
  12. B. Köhler and J. C. Achermann, “Update—steroidogenic factor 1 (SF-1, NR5A1),” Minerva Endocrinologica, vol. 35, no. 2, pp. 73–86, 2010. View at Google Scholar · View at Scopus
  13. B. Ferraz-de-Souza, L. Lin, and J. C. Achermann, “Steroidogenic factor-1 (SF-1, NR5A1) and human disease,” Molecular and Cellular Endocrinology, vol. 336, no. 1-2, pp. 198–205, 2011. View at Publisher · View at Google Scholar · View at Scopus
  14. M. Cools, S. L. S. Drop, K. P. Wolffenbuttel, J. W. Oosterhuis, and L. H. J. Looijenga, “Germ cell tumors in the intersex gonad: old paths, new directions, moving frontiers,” Endocrine Reviews, vol. 27, no. 5, pp. 468–484, 2006. View at Publisher · View at Google Scholar · View at Scopus
  15. J. Słowikowska-Hilczer, M. Szarras-Czapnik, and K. Kula, “Testicular pathology in 46,XY dysgenetic male pseudohermaphroditism: an approach to pathogenesis of testis cancer,” Journal of Andrology, vol. 22, no. 5, pp. 781–792, 2001. View at Google Scholar · View at Scopus
  16. J. German, “Abnormalities of human sex chromosomes. V. A unifying concept in relation to the gonadal dysgeneses,” Clinical Genetics, vol. 1, no. 1, pp. 15–27, 1970. View at Google Scholar
  17. E. B. Hook, “Exclusion of chromosomal mosaicism: tables of 90%, 95%, and 99% confidence limits and comments on use,” The American Journal of Human Genetics, vol. 29, no. 1, pp. 94–97, 1977. View at Google Scholar · View at Scopus
  18. J. G. R. de Andrade, G. Guerra-Júnior, and A. T. Maciel-Guerra, “46,XY and 45,X/46,XY testicular dysgenesis: similar gonadal and genital phenotype, different prognosis,” Arquivos Brasileiros de Endocrinologia e Metabologia, vol. 54, no. 3, pp. 331–334, 2010. View at Publisher · View at Google Scholar · View at Scopus
  19. World Health Organization, WHO Laboratory Manual for the Examination and Processing of Human Semen, World Health Organization, Geneva, Switzerland, 5th edition, 2010.
  20. J. M. Tanner, H. Goldstein, and R. H. Whitehouse, “Standards for children's height at ages 2–9 years allowing for heights of parents,” Archives of Disease in Childhood, vol. 45, no. 244, pp. 755–762, 1970. View at Publisher · View at Google Scholar · View at Scopus
  21. I. Hunter, S. A. Greene, T. M. MacDonald, and A. D. Morris, “Prevalence and aetiology of hypothyroidism in the young,” Archives of Disease in Childhood, vol. 83, no. 3, pp. 207–210, 2000. View at Publisher · View at Google Scholar · View at Scopus
  22. M. Nishimura, S. Naito, and T. Yokoi, “Tissue-specific mRNA expression profiles of human nuclear receptor subfamilies,” Drug Metabolism and Pharmacokinetics, vol. 19, no. 2, pp. 135–149, 2004. View at Publisher · View at Google Scholar · View at Scopus
  23. A. S. Suwanai, T. Ishii, H. Haruna et al., “A report of two novel NR5A1 mutation families: possible clinical phenotype of psychiatric symptoms of anxiety and/or depression,” Clinical Endocrinology, vol. 78, no. 6, pp. 957–965, 2013. View at Publisher · View at Google Scholar · View at Scopus
  24. A. Bashamboo, B. Ferraz-De-Souza, D. Loureno et al., “Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1,” The American Journal of Human Genetics, vol. 87, no. 4, pp. 505–512, 2010. View at Publisher · View at Google Scholar · View at Scopus
  25. S. Tantawy, L. Lin, I. Akkurt et al., “Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations,” European Journal of Endocrinology, vol. 167, no. 1, pp. 125–130, 2012. View at Publisher · View at Google Scholar · View at Scopus
  26. H. C. Fabbri, J. G. R. de Andrade, F. C. Soardi et al., “The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency,” BMC Medical Genetics, vol. 15, no. 1, article 7, 2014. View at Publisher · View at Google Scholar · View at Scopus