A case reported with 46, XX testicular disorders of sexual development and its possible association with dysembryoplastic neuroepithelial tumour Authors Saira Furqan Department of Medicine, Aga Khan University Hospital, Karachi, Pakistan Muhammad Waleed Department of Medicine, Aga Khan University Hospital, Karachi, Pakistan Soban Arif Maan Department of Medicine, Aga Khan University Hospital, Karachi, Pakistan Sumera Batool Department of Medicine, Aga Khan University Hospital, Karachi, Pakistan Naeemul Haque Department of Medicine, Aga Khan University Hospital, Karachi, Pakistan DOI: https://doi.org/10.47391/JPMA.6451 Keywords: SRY gene, XX sex reversal, testicular disorder of sexual differentiation (DSDs), dysembryoplastic neuroepithelial tumour (DNT) Abstract The main factor determining differentiation of bipotential gonads into testes or ovaries is the presence or absence of SRY (sex-determining region on Y chromosome) gene. De la Chapelle syndrome is a chromosomal anomaly with chromosomal makeup of a female (46, XX) and phenotypic presentation of a male. Previously known as XX sex reversal, it is now called 46, XX testicular disorders of sexual development (DSD). Although rare, it presents as a major chromosomal anomaly, with SRY gene crossover proposed as an underlying aetiology in most patients. We report the case of a 25-year-old male who presented with infertility and was diagnosed with De 46, XX testicular DSD. He has a previous history of resected dysembryoplastic neuroepithelial tumour (DNT). The differential diagnosis of 46, XX DSD and possible association/coincidental finding of DNT have been discussed. ---Continue Downloads Full Text Article Published 2023-07-15 How to Cite Furqan, S., Muhammad Waleed, Arif Maan , S., Sumera Batool, & Naeemul Haque. (2023). A case reported with 46, XX testicular disorders of sexual development and its possible association with dysembryoplastic neuroepithelial tumour. Journal of the Pakistan Medical Association, 73(8), 1712–1715. https://doi.org/10.47391/JPMA.6451 More Citation Formats ACM ACS APA ABNT Chicago Harvard IEEE MLA Turabian Vancouver Download Citation Endnote/Zotero/Mendeley (RIS) BibTeX Issue Vol. 73 No. 8 (2023): AUGUST Section CASE REPORT License Copyright (c) 2023 Journal of the Pakistan Medical Association This work is licensed under a Creative Commons Attribution 4.0 International License.