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Case Studies | Genetics Science | Volume 7 Issue 4, April 2018 | Pages: 114 - 116 | India
Ambiguous Genitalia: A Case Report
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
How to Cite?: Dr. Anjali Sabnis, Dr. Vijay N Kamale, "Ambiguous Genitalia: A Case Report", Volume 7 Issue 4, April 2018, International Journal of Science and Research (IJSR), Pages: 114-116, https://www.ijsr.net/getabstract.php?paperid=ART20181260, DOI: https://dx.doi.org/10.21275/ART20181260