@article{Manzoor_Aftab_Yaqoob_2019, title={Ambiguous genitalia: An overview of 7 years experience at the Children’s Hospital & Institute of Child Health, Lahore, Pakistan: Ambiguous genitalia}, volume={35}, url={https://www.pjms.org.pk/index.php/pjms/article/view/289}, DOI={10.12669/pjms.35.1.289}, abstractNote={<p><em><strong>Objective:</strong></em> To determine the classification and etiological diagnosis of children presented with ambiguous genitalia/atypical genitalia according to the newer classification system of Disorder of Sex Development (DSD).</p> <p><em><strong>Methods:</strong></em> This observational, cross-sectional study was conducted at the Department of Pediatric Endocrinology and Diabetes at The Children’s Hospital &amp;Institute of Child Health, Lahore from January, 2007 to December; 2014. Files of all the children with ambiguous genitalia were retrospectively analyzed and relevant data was retrieved. All the information was recorded on predesigned proforma and analyzed accordingly.</p> <p><em><strong>Results:</strong></em> A total of 300 cases of ambiguous genitalia classified according to the new DSD classification. 46, XX DSD were 54.3% (n=163), 46, XY DSD were 43.7% (n=131), sex chromosome DSD were 2% (n=6). Among 46, XX DSD cases, the most common cause was congenital adrenal hyperplasia (97%, n=158). However, in 46, XY DSD partial androgen insensitivity/5α-reductase deficiency (62%. n=81) constituted the most commonest disorder. Other causes of 46XY DSD include testosterone synthesis defect(23%), congenital adrenal hyperplasia (CAH,12%), testis regression syndrome (1.5%) and persistent mullerian duct syndrome (PMDS,1.5%). Sex chromosome disorder constituted one case of iso-chromosome X turner syndrome, mixed gonadal dysgenesis (n=3), ovotesticular DSD/chimerism (n=2).</p> <p><em><strong>Conclusion:</strong></em> Ambiguous genitalia have varied etiologies, 46; XXDSD found being the commonest of all, showing predominance of CAH especially salt loosing type. The early detection and prompt treatment of cases of ambiguous genitalia plays a pivotal role in the management of acute life threatening condition and gender assignment.</p> <p><em><strong>How to cite this:</strong></em><br>Manzoor J, Aftab S, Yaqoob M. Ambiguous genitalia: An overview of 7 years experience at the Children’s Hospital &amp; Institute of Child Health, Lahore, Pakistan. Pak J Med Sci. 2019;35(1):151-155.&nbsp; doi: https://doi.org/10.12669/pjms.35.1.289</p> <p>This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.</p&gt;}, number={1}, journal={Pakistan Journal of Medical Sciences}, author={Manzoor, Jaida and Aftab, Sommayya and Yaqoob, Muhammad}, year={2019}, month={Jan.} }