Gonadal Pathology in Triploidy

Abstract

There are numerous reports describing the pathology of the fetus and placenta in triploidy. Although gonadal pathology is described in many of these reports, consistent changes have not been noted nor is it clear whether genital ambiguity can be considered part of the triploid phenotype. We present a case of triploidy of probable diandric origin, in which there were dysgenetic gonads with abnormal seminiferous tubules, nodules of undifferentiated stroma, and focal absence of the tunica albuginea. As this finding was distinctly unusual in our experience of triploid gonadal pathology, we reviewed the gonadal histology in 51 fetal and infant triploids examined in our autopsy/embryopathology laboratory. The gonads were compared to age-matched normal controls to determine if there was a specific gonadal pathology associated with triploidy and if there was any correlation of this pathology with parental origin of the triploidy. Our review of the triploid gonads indicated that while minor, nonspecific changes were not uncommon, overtly dysgenetic gonads, as observed in the index case, are rare.

Phenotype of triploid embryos

“…Markers used mapped near to (,1.5 cM) the centromere (http://cedar. genetics.soton.ac.uk/pub) and were from multiple chromosomes (2,3,7,12,13,15,16,21, and X). Digyny as the result of an error in the first meiotic division (MI) should show non-reduction to homozygosity at all centromeric markers for Abbreviations: GD, growth disorganised; hCG, human chorionic gonadotrophin; PHM, partial hydatidiform mole which the mother is heterozygous and those arising from errors in the second (MII) should show reduction at all centromeres.…”