49, XXXXY syndrome An infant presenting with ambiguous genitalia

Authors

Rajendra B. Nerli, Department of Urology, KLES Kidney Foundation, KLES Dr. Prabhakar Kore Hospital and M.R.C., Belagavi, Karnataka, India
Prasad V. Magdum, Department of Urology, KLES Kidney Foundation, KLES Dr. Prabhakar Kore Hospital and M.R.C., Belagavi, Karnataka, India
Amit M. Mungarwadi, Department of Urology, KLES Kidney Foundation, KLES Dr. Prabhakar Kore Hospital and M.R.C., Belagavi, Karnataka, India
Shridhar C. Ghagane, Department of Biotechnology and Microbiology, Karnatak University, Dharwad, Karnataka, Indi
Murigendra B. Hiremath, Department of Biotechnology and Microbiology, Karnatak University, Dharwad, Karnataka, Indi

Abstract

Presences of normal genes on the Y chromosome are essential for normal sex determination and sex differentiation of male genitalia. Several genes on the X chromosome and other autosomes have been shown to be anti-testes and have a detrimental effect on the development process of normal male genital system. The addition of X chromosomes to the 46, XY karyotype results in seminiferous tubules dysgenesis, hypogonadism, and malformed genitalia. We report an infant male with 49, XXXXY syndrome presenting with ambiguous genitalia and multiple extra-gonadal anomalies.

Recommended Citation

Nerli, Rajendra B.; Magdum, Prasad V.; Mungarwadi, Amit M.; Ghagane, Shridhar C.; and Hiremath, Murigendra B. (2016) "49, XXXXY syndrome An infant presenting with ambiguous genitalia," Indian Journal of Health Sciences and Biomedical Research KLEU: Vol. 9: Iss. 3, Article 21.
DOI: https://doi.org/10.4103/2349-5006.196341
Available at: https://kleijhsbr.researchcommons.org/journal/vol9/iss3/21

Pages

342

Last Page

344

Copyright

© 2016 Indian Journal of Health Sciences and Biomedical Research KLEU | Published by Wolters Kluwer – Medknow