International Journal of Science and Research (IJSR)

International Journal of Science and Research (IJSR)
Call for Papers | Fully Refereed | Open Access | Double Blind Peer Reviewed

ISSN: 2319-7064


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Case Studies | Genetics Science | India | Volume 7 Issue 4, April 2018


Ambiguous Genitalia: A Case Report

Dr. Anjali Sabnis | Dr. Vijay N Kamale


Abstract: When the sex of the newborn child cannot be decided then it is called as ambiguous genitalia. This becomes very much stressful and serious condition for parents and doctors for which immediate and multidisciplinary approach is expected. Hormonal and genetic factors play crucial role in disorder of sex development. Case We present a case of ambiguous genitalia with omphalocele. Blood sample of new born baby was sent to Cytogenetic laboratory for sex determination. Along with ambiguous genitalia, omphalocele, presence of uterus and testis on sonography, patent ductus arteriosus was present. Karyotyping was done which revealed 46, XY, add 5p (15.3). The hypothesis of relation between karyotyping report and clinical symptoms is presented in this case. Conclusion Karyotyping is a gold standard method in case of ambiguous genitalia.


Keywords: ambiguous genitalia, omphalocele, sex determination, chromosomal aberration


Edition: Volume 7 Issue 4, April 2018,


Pages: 114 - 116


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