A case reported with 46, XX testicular disorders of sexual development and its possible association with dysembryoplastic neuroepithelial tumour | [Journal of Pakistan Medical Association • 2023]

Author(s):

1. Saira Furqan: Department of Medicine, Aga Khan University Hospital, Karachi, Pakistan.

2. Muhammad Waleed: Department of Medicine, Aga Khan University Hospital, Karachi, Pakistan.

3. Soban Arif Maan: Department of Medicine, Aga Khan University Hospital, Karachi, Pakistan.

4. Sumera Batool: Department of Medicine, Aga Khan University Hospital, Karachi, Pakistan.

5. Naeemul Haque: Department of Medicine, Aga Khan University Hospital, Karachi, Pakistan.

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. Karyotyping should be a part of the workup for every patient who presents with infertility and has azoospermia and hypergonadotropic hypogonadism.

Page(s): 1712-1715

DOI: 10.47391/JPMA.6451

Published: Journal: Journal of Pakistan Medical Association, Volume: 73, Issue: 8, Year: 2023

Keywords:

XX sex reversal , testicular disorder of sexual differentiation DSDs , SRY gene , dysembryoplastic neuroepithelial tumour DNT

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