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Original Contributions
April 20, 1964

Gonadal Dysgenesis Intersex With XO/XY Mosaicism

Author Affiliations

Augusta, Ga

From the Medical College of Georgia.

JAMA. 1964;188(3):221-224. doi:10.1001/jama.1964.03060290025005

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