Tulsi Sharma and Akshat Mehta
JCEM Case Reports, Volume 1, Issue 1, January 2023, luac033
https://doi.org/10.1210/jcemcr/luac033
We present a patient case referred for evaluation of male hypogonadism with gynecomastia. On examination, he was noted to have microtestis, shorter than expected height, and bilateral gynecomastia. Further investigation revealed XX genotype and on fluorescence in situ hybridization analysis confirmed the SRY gene was present on the short arm of 1 X chromosome. This case highlights the importance of detailed history and examination and the indication for genetic counseling in selected cases.
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