The spectrum of gonadal dysgenesis: A clinical, cytogenetic, and pathologic study

Abstract

Thirty-one patients with anatomical verification of the diagnosis of gonadal dysgenesis have been assessed as to possible correlations between clinical, cytogenetic, and histologic findings. No significant differences in histopathology were detected. Characteristically, histologic sections exhibited fibrous stroma and. mesonephric remnants with sporadic occurrence of Leydig or hilar cells. On the other hand, clinical and cytogenetic findings were quite variable. The clinical spectrum included patients of short, normal, and tall stature, some with and some without associated somatic anomalies. Among the 31 patients, cytogenetic studies revealed eleven different sex chromosome patterns including normal XX complements. There appeared to be some correlation between the amount of genetic privation and the incidence of somatic anomalies. Analysis of all data has led to the conclusion that most cases of gonadal dysgenesis may be diagnosed on the basis of clinical and cytogenetic findings alone. However, of special interest are a smaU minority of patients who require gonadal visualization for definitive diagnosis and accurate prognosis.