Quantitative histology of human fetal testes in chromosomal disease

Morphometric studies on male gonads were performed in 35 midterm fetuses aborted after prenatal diagnosis of a chromosome anomaly and in 11 chromosomally normal controls. A significant reduction of the number and volume percentage of premeiotic germ cells was observed in the chromosomally abnormal cases. Germ cell depletion was correlated with the severity of the chromosomal disease. It was least expressed in the XYY condition. In trisomy 13 and 18, depletion lead to values of less than a half or even a fourth the values of controls. Complex anomalies with XXY or XYY in addition to an autosomal disorder showed a moderate effect on germ cell reduction. No morphological differences were observed in germ cells or in Sertoli cells in a comparative electron microscopic study. Paucity of fetal germ cells can result from impaired colonization of the gonadal ridge, from low mitotic activity, or from increased premeiotic cell loss. All three factors seem to contribute to the above findings.