XO/XY mosaicism in phenotypic males.

Walker, K; Gunn, A J; Gluckman, P D · Arch Dis Child · 1990

case_series · Level IV

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Abstract

Eight cases of 45 XO/46 XY mosaicism are described: four were phenotypic males. Karyotyping should be performed more frequently in short boys as growth hormone treatment and testicular biopsy, to screen for carcinoma in situ, are likely to be beneficial.

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