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Original Contributions |

Gonadal Dysgenesis Intersex With XO/XY Mosaicism

Robert B. Greenblatt, MD; Hernan Dominguez, MD; Virendra B. Mahesh, PhD; Robert Demos, MD
JAMA. 1964;188(3):221-224. doi:10.1001/jama.1964.03060290025005.
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Individuals with gonadal dysgenesis (Turner's syndrome) have been considered pseudofemales because of the presence of only 45 chromosomes with a single X sex chromosome. Male pseudohermaphrodites usually have 46 chromosomes with an XY sex chromosome pattern. The missing sex chromosome in Turner's syndrome may be either an X or a Y. The finding of phenotypic females with an XO/XY chromosomal sex pattern having gonadal dysgenesis and a contralateral testis provides a link between gonadal dysgenesis and male pseudohermaphroditism. The suggestion is made that in many instances patients with Turner's syndrome, particularly those with androgenic manifestations, may well be atypical cases of male pseudohermaphrodit


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