Abstract
45,X/46,XY mosaicism is a disorder/ difference of sex development (DSD) posing a great clinical challenge due to the highly heterogeneous spectrum of clinical manifestations, genital abnormalities, gonadal dysgenesis, growth hormone dysregulations, psychological and educational impacts and query increased risk for gonadal malignancies. The full extent of the manifestations in both genders and the long-term outcomes are not fully delineated as previous reports studied small cohorts with limited follow-up.
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