Syndrome of Gonadal Dysgenesis and Abdominal Testis with an XO/XY Chromosome Mosaicism

Abstract

A link between certain types of gonadal dysgenesis and male pseudohermaphroditism was furnished by a study of 2 phenotypic female patients with asymmetric gonadal differentiation. In each case, at laparotomy a unilateral testis and a contralateral rudimentary gonadal streak were found, along with a uterus and fallopian tubes. Both of these had chromatin-negative buccal smears, and on leukocyte culture the chromosome analysis revealed an XO/XY mosaicism in each. Abnormal development of the external genitalia was present, in that the vaginal orifice in each was unusually reduced in size and the clitoris was considerably enlarged. One of the patients had the appearance of a classic Turner's syndrome, but with androgenic manifestations. The other patient was an atypical Turner's syndrome. Although there was no webbing of the neck, the neck was shorter than that normally seen, and the hair line was somewhat lower on the back of the neck. The carrying angle was slightly increased. The patient was of diminished stature with ambiguous development of the external genitalia.