Gonadal dysgenesis: ovaries in association with chromatin-negative pattern in somatic cells.

Abstract

ABSTRACT Two patients are described who had a “male” chromatin pattern in the somatic cellular nuclei, but gonadal tissue which was ovarian in nature; neither patient was of short stature nor had recognizable somatic anomalies. Current evidence indicates that these patients represent extreme examples of genetic aberrations and were never destined to be males, or even normal females. In cases of genetic anomalies, the mere presence or absence of the chromatin mass in nuclei of somatic cells is an inadequate criterion for proper qualitative interpretation of the genetic “background” of the patient. Terms such as “nuclear sexing”, “chromosomal male” or “completesex reversal” should not be used, because they may be entirely inaccurate for a description of the true situation. These 2 cases of atypical Turner's syndrome suggest that numerous gradations and combinations of genetic defects in gonadal development and function may exist in relatively normal-appearing women.